Incidental Mutation 'R1793:Aspm'
| ID |
201889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aspm
|
| Ensembl Gene |
ENSMUSG00000033952 |
| Gene Name |
abnormal spindle microtubule assembly |
| Synonyms |
Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm |
| MMRRC Submission |
039823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139382510-139421829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139385079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 241
(V241E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039867]
[ENSMUST00000053364]
[ENSMUST00000200083]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039867
|
| SMART Domains |
Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
BTB
|
89 |
183 |
7.06e-16 |
SMART |
|
ZnF_C2H2
|
208 |
231 |
3.78e-1 |
SMART |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
327 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
360 |
382 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
421 |
444 |
2.67e-1 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
490 |
513 |
1.41e0 |
SMART |
|
ZnF_C2H2
|
517 |
540 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
546 |
568 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
574 |
596 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
602 |
624 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
630 |
653 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
695 |
717 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
723 |
746 |
3.34e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053364
AA Change: V241E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
AA Change: V241E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASH
|
29 |
126 |
8.9e-35 |
PFAM |
|
low complexity region
|
855 |
861 |
N/A |
INTRINSIC |
|
CH
|
890 |
1022 |
2.04e0 |
SMART |
|
CH
|
1080 |
1224 |
5.56e-9 |
SMART |
|
IQ
|
1233 |
1255 |
7.57e0 |
SMART |
|
IQ
|
1259 |
1281 |
1.12e1 |
SMART |
|
IQ
|
1282 |
1304 |
3.73e-1 |
SMART |
|
IQ
|
1314 |
1336 |
2.41e-4 |
SMART |
|
IQ
|
1360 |
1382 |
2.12e1 |
SMART |
|
IQ
|
1387 |
1408 |
7.61e1 |
SMART |
|
IQ
|
1409 |
1431 |
6.97e0 |
SMART |
|
IQ
|
1432 |
1452 |
1.44e1 |
SMART |
|
IQ
|
1453 |
1475 |
1.15e-1 |
SMART |
|
IQ
|
1476 |
1495 |
1.66e2 |
SMART |
|
IQ
|
1503 |
1525 |
1.65e-2 |
SMART |
|
IQ
|
1526 |
1548 |
1.32e1 |
SMART |
|
IQ
|
1549 |
1571 |
1.48e1 |
SMART |
|
IQ
|
1572 |
1594 |
2.5e1 |
SMART |
|
IQ
|
1599 |
1621 |
2.58e-4 |
SMART |
|
IQ
|
1622 |
1644 |
6.7e-3 |
SMART |
|
IQ
|
1645 |
1667 |
4.25e1 |
SMART |
|
IQ
|
1668 |
1694 |
1.03e2 |
SMART |
|
IQ
|
1695 |
1717 |
2.33e-2 |
SMART |
|
IQ
|
1718 |
1740 |
7.79e0 |
SMART |
|
IQ
|
1741 |
1763 |
1.57e2 |
SMART |
|
IQ
|
1768 |
1790 |
2.68e-2 |
SMART |
|
IQ
|
1791 |
1813 |
5.83e-3 |
SMART |
|
IQ
|
1814 |
1836 |
5.93e1 |
SMART |
|
IQ
|
1841 |
1863 |
1.92e-3 |
SMART |
|
IQ
|
1864 |
1886 |
3.79e-2 |
SMART |
|
IQ
|
1914 |
1936 |
4.11e0 |
SMART |
|
IQ
|
1937 |
1959 |
1.87e-1 |
SMART |
|
IQ
|
1960 |
1982 |
6.27e1 |
SMART |
|
IQ
|
1987 |
2009 |
8.25e-3 |
SMART |
|
IQ
|
2010 |
2032 |
5.73e0 |
SMART |
|
IQ
|
2060 |
2082 |
1.39e0 |
SMART |
|
IQ
|
2083 |
2105 |
4.62e1 |
SMART |
|
IQ
|
2133 |
2155 |
5.58e0 |
SMART |
|
IQ
|
2156 |
2178 |
7.07e-2 |
SMART |
|
IQ
|
2206 |
2228 |
1.18e-3 |
SMART |
|
IQ
|
2229 |
2251 |
4.59e0 |
SMART |
|
IQ
|
2278 |
2300 |
1.85e-5 |
SMART |
|
IQ
|
2301 |
2323 |
8.13e-2 |
SMART |
|
IQ
|
2342 |
2364 |
9.62e-4 |
SMART |
|
IQ
|
2365 |
2387 |
4.12e-3 |
SMART |
|
IQ
|
2415 |
2437 |
7.58e-2 |
SMART |
|
IQ
|
2438 |
2460 |
2.6e0 |
SMART |
|
IQ
|
2490 |
2512 |
1.68e-3 |
SMART |
|
IQ
|
2513 |
2535 |
8.51e1 |
SMART |
|
IQ
|
2560 |
2582 |
2.14e-1 |
SMART |
|
IQ
|
2601 |
2623 |
8.46e0 |
SMART |
|
IQ
|
2647 |
2669 |
1.15e1 |
SMART |
|
IQ
|
2673 |
2695 |
1.95e-4 |
SMART |
|
IQ
|
2696 |
2718 |
4.13e1 |
SMART |
|
IQ
|
2723 |
2745 |
1.02e-2 |
SMART |
|
IQ
|
2761 |
2783 |
3.14e2 |
SMART |
|
IQ
|
2784 |
2806 |
1e1 |
SMART |
|
IQ
|
2825 |
2847 |
2.43e0 |
SMART |
|
IQ
|
2848 |
2870 |
4.6e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200083
AA Change: V241E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
AA Change: V241E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
855 |
861 |
N/A |
INTRINSIC |
|
CH
|
890 |
1022 |
2.04e0 |
SMART |
|
CH
|
1080 |
1224 |
5.56e-9 |
SMART |
|
IQ
|
1233 |
1255 |
7.57e0 |
SMART |
|
IQ
|
1259 |
1281 |
1.12e1 |
SMART |
|
IQ
|
1282 |
1304 |
3.73e-1 |
SMART |
|
IQ
|
1314 |
1336 |
1.25e1 |
SMART |
|
IQ
|
1337 |
1358 |
2.96e1 |
SMART |
|
IQ
|
1382 |
1404 |
1.15e1 |
SMART |
|
IQ
|
1408 |
1430 |
1.95e-4 |
SMART |
|
IQ
|
1431 |
1453 |
4.13e1 |
SMART |
|
IQ
|
1458 |
1480 |
1.02e-2 |
SMART |
|
IQ
|
1496 |
1518 |
3.14e2 |
SMART |
|
IQ
|
1519 |
1541 |
1e1 |
SMART |
|
IQ
|
1560 |
1582 |
2.43e0 |
SMART |
|
IQ
|
1583 |
1605 |
4.6e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (122/122) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for protein-truncating gene trap mutations of this gene exhibit decreased body weight, microcephaly, a severe reduction in brain, testis and ovary weight, oligozoospermia and asthenospermia, and reduced fertility in both sexes. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, other(2) Gene trapped(7) |
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,144 (GRCm39) |
H571Q |
probably damaging |
Het |
| Abcf2 |
T |
A |
5: 24,773,774 (GRCm39) |
M372L |
probably benign |
Het |
| Acaca |
A |
C |
11: 84,206,795 (GRCm39) |
T1552P |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,229,219 (GRCm39) |
D1682G |
probably damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,906 (GRCm39) |
V62A |
probably benign |
Het |
| Aimp1 |
C |
T |
3: 132,379,825 (GRCm39) |
V97M |
probably benign |
Het |
| Aldh1l1 |
C |
T |
6: 90,554,813 (GRCm39) |
T557I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,471,447 (GRCm39) |
T1012A |
probably damaging |
Het |
| Amot |
G |
A |
X: 144,233,585 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
T |
A |
7: 101,037,829 (GRCm39) |
H477Q |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,736,732 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,242,684 (GRCm39) |
V862M |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,554 (GRCm39) |
I27V |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,277 (GRCm39) |
P8L |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,616 (GRCm39) |
H2682R |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,586,217 (GRCm39) |
|
probably benign |
Het |
| AY358078 |
T |
G |
14: 52,042,051 (GRCm39) |
M142R |
unknown |
Het |
| C3 |
T |
A |
17: 57,526,592 (GRCm39) |
K796N |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,590,041 (GRCm39) |
T301A |
probably damaging |
Het |
| Ceacam5 |
T |
G |
7: 17,481,320 (GRCm39) |
Y356D |
probably benign |
Het |
| Cep192 |
C |
T |
18: 67,984,838 (GRCm39) |
A1616V |
possibly damaging |
Het |
| Cfap91 |
T |
A |
16: 38,141,781 (GRCm39) |
N384Y |
possibly damaging |
Het |
| Cherp |
A |
T |
8: 73,216,994 (GRCm39) |
H645Q |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,242 (GRCm39) |
D167G |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,275,860 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
C |
T |
15: 92,189,552 (GRCm39) |
T625I |
possibly damaging |
Het |
| Cpn2 |
T |
A |
16: 30,078,142 (GRCm39) |
N520Y |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,746,620 (GRCm39) |
R1762W |
probably damaging |
Het |
| Cts3 |
C |
A |
13: 61,715,967 (GRCm39) |
V100F |
probably benign |
Het |
| Ddx56 |
A |
T |
11: 6,216,934 (GRCm39) |
V87D |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,010,420 (GRCm39) |
|
probably null |
Het |
| Dock1 |
T |
A |
7: 134,700,456 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,191,552 (GRCm39) |
Y291* |
probably null |
Het |
| Eif4g3 |
T |
C |
4: 137,898,442 (GRCm39) |
I1071T |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,322,549 (GRCm39) |
Q78R |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,739,284 (GRCm39) |
P195S |
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,161,666 (GRCm39) |
Q835* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,741 (GRCm39) |
N678S |
probably benign |
Het |
| Frk |
G |
A |
10: 34,483,878 (GRCm39) |
R413H |
probably benign |
Het |
| Gm10619 |
C |
A |
7: 73,459,758 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12185 |
G |
A |
11: 48,806,583 (GRCm39) |
R203* |
probably null |
Het |
| Gm12886 |
A |
G |
4: 121,280,174 (GRCm39) |
V34A |
probably benign |
Het |
| Gna12 |
A |
T |
5: 140,746,707 (GRCm39) |
I246N |
probably damaging |
Het |
| Gpm6a |
T |
C |
8: 55,507,867 (GRCm39) |
M201T |
probably benign |
Het |
| Gpsm2 |
T |
G |
3: 108,608,225 (GRCm39) |
D220A |
probably benign |
Het |
| Grip2 |
C |
G |
6: 91,760,623 (GRCm39) |
V325L |
probably benign |
Het |
| Grk5 |
C |
A |
19: 61,065,200 (GRCm39) |
A288D |
probably damaging |
Het |
| Herpud2 |
G |
A |
9: 25,021,953 (GRCm39) |
A231V |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,624,834 (GRCm39) |
S1024G |
probably benign |
Het |
| Hp1bp3 |
A |
G |
4: 137,957,820 (GRCm39) |
D295G |
probably damaging |
Het |
| Igsf21 |
T |
C |
4: 139,761,703 (GRCm39) |
H325R |
probably damaging |
Het |
| Ing2 |
T |
A |
8: 48,122,364 (GRCm39) |
L61F |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,590 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,516,712 (GRCm39) |
C374S |
probably benign |
Het |
| Klk1b22 |
A |
G |
7: 43,765,775 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,940,764 (GRCm39) |
M630T |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,572,725 (GRCm39) |
C115S |
probably damaging |
Het |
| Lmcd1 |
C |
A |
6: 112,305,712 (GRCm39) |
T271K |
probably benign |
Het |
| Lpar1 |
G |
A |
4: 58,486,798 (GRCm39) |
R158* |
probably null |
Het |
| Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
| Map3k8 |
G |
A |
18: 4,332,389 (GRCm39) |
Q441* |
probably null |
Het |
| Mboat1 |
T |
C |
13: 30,403,633 (GRCm39) |
V144A |
probably damaging |
Het |
| Mcur1 |
C |
T |
13: 43,713,491 (GRCm39) |
G38S |
unknown |
Het |
| Med13 |
T |
A |
11: 86,220,177 (GRCm39) |
M276L |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,526,528 (GRCm39) |
S699P |
possibly damaging |
Het |
| Mfsd4a |
C |
A |
1: 131,987,077 (GRCm39) |
A62S |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,571,459 (GRCm39) |
M1V |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,548,415 (GRCm39) |
T58I |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,538,066 (GRCm39) |
D1316V |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,555,478 (GRCm39) |
C235S |
possibly damaging |
Het |
| Naa25 |
C |
A |
5: 121,558,656 (GRCm39) |
R333S |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,539,233 (GRCm39) |
T2056I |
probably benign |
Het |
| Nol4 |
A |
G |
18: 22,902,878 (GRCm39) |
Y378H |
probably damaging |
Het |
| Npat |
G |
A |
9: 53,463,589 (GRCm39) |
R124Q |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,848,665 (GRCm39) |
E434V |
probably benign |
Het |
| Nptx2 |
A |
G |
5: 144,485,130 (GRCm39) |
T208A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,968,606 (GRCm39) |
V2798M |
probably damaging |
Het |
| Odad4 |
C |
A |
11: 100,460,679 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,976 (GRCm39) |
H8Q |
probably benign |
Het |
| Or52r1 |
A |
G |
7: 102,537,250 (GRCm39) |
Y37H |
probably benign |
Het |
| Or5b122 |
C |
T |
19: 13,562,779 (GRCm39) |
T37I |
probably benign |
Het |
| Padi1 |
G |
A |
4: 140,541,967 (GRCm39) |
P652S |
probably damaging |
Het |
| Pcdh1 |
G |
T |
18: 38,331,938 (GRCm39) |
P355Q |
probably damaging |
Het |
| Pck2 |
G |
A |
14: 55,781,422 (GRCm39) |
R189H |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,432,114 (GRCm39) |
K1500N |
possibly damaging |
Het |
| Phc3 |
A |
T |
3: 31,002,865 (GRCm39) |
S218T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,239,355 (GRCm39) |
M510L |
possibly damaging |
Het |
| Polr1g |
T |
C |
7: 19,091,904 (GRCm39) |
T68A |
possibly damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,754,717 (GRCm39) |
Y177N |
probably damaging |
Het |
| Psme2b |
A |
T |
11: 48,836,361 (GRCm39) |
D195E |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,088,827 (GRCm39) |
V463A |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,836,281 (GRCm39) |
R574Q |
probably damaging |
Het |
| Rap1gds1 |
T |
A |
3: 138,756,314 (GRCm39) |
T14S |
possibly damaging |
Het |
| Rbm11 |
A |
T |
16: 75,397,685 (GRCm39) |
K205M |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,793,050 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
C |
A |
1: 153,630,169 (GRCm39) |
H228Q |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,831,640 (GRCm39) |
I710K |
probably benign |
Het |
| Slc27a4 |
C |
A |
2: 29,695,733 (GRCm39) |
D89E |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,863,779 (GRCm39) |
V309A |
probably benign |
Het |
| Syt7 |
T |
G |
19: 10,421,354 (GRCm39) |
Y420D |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,515,859 (GRCm39) |
|
probably null |
Het |
| Tbc1d10b |
A |
G |
7: 126,802,930 (GRCm39) |
S333P |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,914,209 (GRCm39) |
P2442S |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 49,127,579 (GRCm39) |
C33Y |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,319,419 (GRCm39) |
L245P |
possibly damaging |
Het |
| Tlr5 |
T |
C |
1: 182,800,012 (GRCm39) |
F5L |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,726,999 (GRCm39) |
F784L |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
| Txndc17 |
T |
A |
11: 72,099,571 (GRCm39) |
N81K |
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,830,895 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
C |
7: 37,681,116 (GRCm39) |
V96G |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,246 (GRCm39) |
I482N |
probably damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,034,974 (GRCm39) |
N73S |
possibly damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,388 (GRCm39) |
G689* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,877,164 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,051,474 (GRCm39) |
S659G |
probably damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,349 (GRCm39) |
K275R |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,535 (GRCm39) |
P1789S |
probably damaging |
Het |
|
| Other mutations in Aspm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Aspm
|
APN |
1 |
139,406,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00594:Aspm
|
APN |
1 |
139,415,160 (GRCm39) |
splice site |
probably benign |
|
|
IGL00808:Aspm
|
APN |
1 |
139,389,214 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00897:Aspm
|
APN |
1 |
139,405,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01024:Aspm
|
APN |
1 |
139,405,862 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01410:Aspm
|
APN |
1 |
139,410,182 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01588:Aspm
|
APN |
1 |
139,405,900 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01610:Aspm
|
APN |
1 |
139,417,408 (GRCm39) |
nonsense |
probably null |
|
|
IGL01633:Aspm
|
APN |
1 |
139,408,574 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01982:Aspm
|
APN |
1 |
139,419,326 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02429:Aspm
|
APN |
1 |
139,407,548 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02468:Aspm
|
APN |
1 |
139,408,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02519:Aspm
|
APN |
1 |
139,389,665 (GRCm39) |
splice site |
probably benign |
|
|
IGL02526:Aspm
|
APN |
1 |
139,417,457 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02716:Aspm
|
APN |
1 |
139,407,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Aspm
|
APN |
1 |
139,401,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02953:Aspm
|
APN |
1 |
139,385,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03275:Aspm
|
APN |
1 |
139,415,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stemware
|
UTSW |
1 |
139,405,197 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Aspm
|
UTSW |
1 |
139,385,279 (GRCm39) |
missense |
probably benign |
|
|
R0016:Aspm
|
UTSW |
1 |
139,407,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0016:Aspm
|
UTSW |
1 |
139,407,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0106:Aspm
|
UTSW |
1 |
139,404,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0106:Aspm
|
UTSW |
1 |
139,404,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0140:Aspm
|
UTSW |
1 |
139,408,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Aspm
|
UTSW |
1 |
139,406,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Aspm
|
UTSW |
1 |
139,385,618 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0276:Aspm
|
UTSW |
1 |
139,406,209 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0309:Aspm
|
UTSW |
1 |
139,410,249 (GRCm39) |
splice site |
probably benign |
|
|
R0466:Aspm
|
UTSW |
1 |
139,405,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0520:Aspm
|
UTSW |
1 |
139,406,558 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0615:Aspm
|
UTSW |
1 |
139,415,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Aspm
|
UTSW |
1 |
139,419,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0660:Aspm
|
UTSW |
1 |
139,385,502 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0751:Aspm
|
UTSW |
1 |
139,384,636 (GRCm39) |
splice site |
probably benign |
|
|
R0830:Aspm
|
UTSW |
1 |
139,401,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1109:Aspm
|
UTSW |
1 |
139,384,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1114:Aspm
|
UTSW |
1 |
139,389,662 (GRCm39) |
splice site |
probably benign |
|
|
R1130:Aspm
|
UTSW |
1 |
139,405,572 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1298:Aspm
|
UTSW |
1 |
139,385,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1386:Aspm
|
UTSW |
1 |
139,385,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1386:Aspm
|
UTSW |
1 |
139,406,710 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1557:Aspm
|
UTSW |
1 |
139,396,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1625:Aspm
|
UTSW |
1 |
139,408,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1728:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1729:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1730:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1733:Aspm
|
UTSW |
1 |
139,384,855 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1739:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1762:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1783:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1784:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1785:Aspm
|
UTSW |
1 |
139,401,312 (GRCm39) |
missense |
probably benign |
|
|
R1893:Aspm
|
UTSW |
1 |
139,407,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Aspm
|
UTSW |
1 |
139,405,832 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2103:Aspm
|
UTSW |
1 |
139,419,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2128:Aspm
|
UTSW |
1 |
139,385,373 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2129:Aspm
|
UTSW |
1 |
139,385,373 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2239:Aspm
|
UTSW |
1 |
139,384,584 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2352:Aspm
|
UTSW |
1 |
139,385,300 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2353:Aspm
|
UTSW |
1 |
139,405,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Aspm
|
UTSW |
1 |
139,407,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Aspm
|
UTSW |
1 |
139,405,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Aspm
|
UTSW |
1 |
139,416,225 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3607:Aspm
|
UTSW |
1 |
139,408,406 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3711:Aspm
|
UTSW |
1 |
139,385,838 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3718:Aspm
|
UTSW |
1 |
139,418,165 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3718:Aspm
|
UTSW |
1 |
139,408,627 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3741:Aspm
|
UTSW |
1 |
139,406,357 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3788:Aspm
|
UTSW |
1 |
139,390,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Aspm
|
UTSW |
1 |
139,405,792 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3839:Aspm
|
UTSW |
1 |
139,405,792 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3849:Aspm
|
UTSW |
1 |
139,386,024 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4075:Aspm
|
UTSW |
1 |
139,402,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Aspm
|
UTSW |
1 |
139,398,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Aspm
|
UTSW |
1 |
139,382,748 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4537:Aspm
|
UTSW |
1 |
139,402,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4547:Aspm
|
UTSW |
1 |
139,405,925 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4573:Aspm
|
UTSW |
1 |
139,407,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4680:Aspm
|
UTSW |
1 |
139,408,409 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4807:Aspm
|
UTSW |
1 |
139,405,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Aspm
|
UTSW |
1 |
139,398,269 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4854:Aspm
|
UTSW |
1 |
139,405,810 (GRCm39) |
nonsense |
probably null |
|
|
R4859:Aspm
|
UTSW |
1 |
139,397,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Aspm
|
UTSW |
1 |
139,417,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4910:Aspm
|
UTSW |
1 |
139,419,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Aspm
|
UTSW |
1 |
139,399,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4974:Aspm
|
UTSW |
1 |
139,405,748 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4981:Aspm
|
UTSW |
1 |
139,398,498 (GRCm39) |
splice site |
probably null |
|
|
R5082:Aspm
|
UTSW |
1 |
139,406,414 (GRCm39) |
nonsense |
probably null |
|
|
R5223:Aspm
|
UTSW |
1 |
139,406,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Aspm
|
UTSW |
1 |
139,392,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Aspm
|
UTSW |
1 |
139,398,279 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Aspm
|
UTSW |
1 |
139,398,133 (GRCm39) |
splice site |
probably null |
|
|
R5377:Aspm
|
UTSW |
1 |
139,385,221 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5481:Aspm
|
UTSW |
1 |
139,384,799 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5513:Aspm
|
UTSW |
1 |
139,410,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Aspm
|
UTSW |
1 |
139,398,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Aspm
|
UTSW |
1 |
139,407,407 (GRCm39) |
missense |
probably benign |
|
|
R5685:Aspm
|
UTSW |
1 |
139,415,026 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5695:Aspm
|
UTSW |
1 |
139,407,407 (GRCm39) |
missense |
probably benign |
|
|
R5766:Aspm
|
UTSW |
1 |
139,406,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5964:Aspm
|
UTSW |
1 |
139,382,965 (GRCm39) |
intron |
probably benign |
|
|
R5993:Aspm
|
UTSW |
1 |
139,407,269 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6027:Aspm
|
UTSW |
1 |
139,390,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Aspm
|
UTSW |
1 |
139,408,728 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6102:Aspm
|
UTSW |
1 |
139,405,197 (GRCm39) |
nonsense |
probably null |
|
|
R6188:Aspm
|
UTSW |
1 |
139,406,977 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6257:Aspm
|
UTSW |
1 |
139,409,791 (GRCm39) |
splice site |
probably null |
|
|
R6433:Aspm
|
UTSW |
1 |
139,401,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Aspm
|
UTSW |
1 |
139,385,460 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6763:Aspm
|
UTSW |
1 |
139,398,255 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6798:Aspm
|
UTSW |
1 |
139,396,423 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6815:Aspm
|
UTSW |
1 |
139,407,880 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6854:Aspm
|
UTSW |
1 |
139,390,920 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6928:Aspm
|
UTSW |
1 |
139,407,944 (GRCm39) |
nonsense |
probably null |
|
|
R6943:Aspm
|
UTSW |
1 |
139,408,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Aspm
|
UTSW |
1 |
139,408,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Aspm
|
UTSW |
1 |
139,397,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Aspm
|
UTSW |
1 |
139,408,541 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7237:Aspm
|
UTSW |
1 |
139,405,667 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7240:Aspm
|
UTSW |
1 |
139,406,389 (GRCm39) |
nonsense |
probably null |
|
|
R7272:Aspm
|
UTSW |
1 |
139,386,066 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7427:Aspm
|
UTSW |
1 |
139,385,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7519:Aspm
|
UTSW |
1 |
139,418,074 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7776:Aspm
|
UTSW |
1 |
139,407,584 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7875:Aspm
|
UTSW |
1 |
139,382,872 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7883:Aspm
|
UTSW |
1 |
139,406,405 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7964:Aspm
|
UTSW |
1 |
139,408,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Aspm
|
UTSW |
1 |
139,385,202 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8029:Aspm
|
UTSW |
1 |
139,399,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8233:Aspm
|
UTSW |
1 |
139,385,042 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8277:Aspm
|
UTSW |
1 |
139,382,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Aspm
|
UTSW |
1 |
139,392,011 (GRCm39) |
nonsense |
probably null |
|
|
R8491:Aspm
|
UTSW |
1 |
139,385,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8511:Aspm
|
UTSW |
1 |
139,385,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Aspm
|
UTSW |
1 |
139,384,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8927:Aspm
|
UTSW |
1 |
139,418,125 (GRCm39) |
nonsense |
probably null |
|
|
R8928:Aspm
|
UTSW |
1 |
139,418,125 (GRCm39) |
nonsense |
probably null |
|
|
R8950:Aspm
|
UTSW |
1 |
139,406,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9033:Aspm
|
UTSW |
1 |
139,405,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Aspm
|
UTSW |
1 |
139,421,436 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9133:Aspm
|
UTSW |
1 |
139,419,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Aspm
|
UTSW |
1 |
139,417,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Aspm
|
UTSW |
1 |
139,404,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Aspm
|
UTSW |
1 |
139,389,182 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9400:Aspm
|
UTSW |
1 |
139,407,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9419:Aspm
|
UTSW |
1 |
139,384,923 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9454:Aspm
|
UTSW |
1 |
139,408,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9517:Aspm
|
UTSW |
1 |
139,407,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Aspm
|
UTSW |
1 |
139,408,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Aspm
|
UTSW |
1 |
139,385,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9640:Aspm
|
UTSW |
1 |
139,408,010 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9698:Aspm
|
UTSW |
1 |
139,389,646 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9790:Aspm
|
UTSW |
1 |
139,408,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9791:Aspm
|
UTSW |
1 |
139,408,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9794:Aspm
|
UTSW |
1 |
139,406,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Aspm
|
UTSW |
1 |
139,385,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTAGGAGCCCACTGCAG -3'
(R):5'- CAGGTCATTATCAGACGTATACCTG -3'
Sequencing Primer
(F):5'- CAGCCTTGTGAAAATCTGGC -3'
(R):5'- AGACGTATACCTGTTGTTTACAAAAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation