Incidental Mutation 'R4910:Aspm'
ID |
379348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspm
|
Ensembl Gene |
ENSMUSG00000033952 |
Gene Name |
abnormal spindle microtubule assembly |
Synonyms |
Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm |
MMRRC Submission |
042512-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4910 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139382510-139421829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139419281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 2982
(Y2982C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053364]
[ENSMUST00000200083]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053364
AA Change: Y2982C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059159 Gene: ENSMUSG00000033952 AA Change: Y2982C
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: ENSMUST00000196272
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200083
AA Change: Y1717C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142880 Gene: ENSMUSG00000033952 AA Change: Y1717C
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 |
0.3799 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.6%
- 20x: 86.1%
|
Validation Efficiency |
95% (144/151) |
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: 123 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,776,435 (GRCm39) |
|
probably null |
Het |
Adam3 |
T |
A |
8: 25,184,321 (GRCm39) |
I560L |
probably benign |
Het |
Agxt |
T |
C |
1: 93,063,436 (GRCm39) |
F113L |
probably benign |
Het |
Aknad1 |
T |
A |
3: 108,688,568 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
A |
18: 65,399,357 (GRCm39) |
K2074* |
probably null |
Het |
Apob |
A |
G |
12: 8,057,848 (GRCm39) |
Y2077C |
probably damaging |
Het |
Arhgap17 |
A |
T |
7: 122,907,600 (GRCm39) |
L254Q |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,126,690 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,249,762 (GRCm39) |
D171G |
probably benign |
Het |
Arid1b |
T |
A |
17: 5,392,478 (GRCm39) |
S2003T |
probably damaging |
Het |
Armc5 |
T |
G |
7: 127,839,900 (GRCm39) |
L406R |
possibly damaging |
Het |
Arsb |
T |
C |
13: 93,908,485 (GRCm39) |
V67A |
probably benign |
Het |
Bltp1 |
C |
A |
3: 37,052,348 (GRCm39) |
T3016K |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,774,307 (GRCm39) |
L487P |
probably damaging |
Het |
Card11 |
C |
G |
5: 140,860,169 (GRCm39) |
D1063H |
probably damaging |
Het |
Ccdc186 |
G |
A |
19: 56,787,123 (GRCm39) |
T615M |
probably damaging |
Het |
Cd101 |
T |
A |
3: 100,901,205 (GRCm39) |
T960S |
probably benign |
Het |
Cdca7l |
C |
A |
12: 117,837,520 (GRCm39) |
S191* |
probably null |
Het |
Cemip |
A |
T |
7: 83,646,619 (GRCm39) |
I143N |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,609,829 (GRCm39) |
E161K |
possibly damaging |
Het |
Cfhr4 |
T |
G |
1: 139,702,301 (GRCm39) |
D61A |
probably damaging |
Het |
Chrm2 |
A |
T |
6: 36,501,168 (GRCm39) |
T342S |
probably benign |
Het |
Cib2 |
A |
G |
9: 54,457,163 (GRCm39) |
F34L |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,459,859 (GRCm39) |
I1836N |
probably benign |
Het |
Col4a3 |
C |
A |
1: 82,650,400 (GRCm39) |
P552Q |
unknown |
Het |
Cp |
T |
A |
3: 20,043,388 (GRCm39) |
|
probably benign |
Het |
Cul3 |
C |
T |
1: 80,267,806 (GRCm39) |
V112I |
probably benign |
Het |
Dcdc5 |
A |
G |
2: 106,195,895 (GRCm39) |
|
noncoding transcript |
Het |
Disp1 |
A |
T |
1: 182,917,027 (GRCm39) |
V133E |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,921,751 (GRCm39) |
D30G |
probably damaging |
Het |
Dop1a |
C |
T |
9: 86,374,114 (GRCm39) |
T191I |
probably damaging |
Het |
Enam |
T |
G |
5: 88,650,173 (GRCm39) |
S561A |
probably benign |
Het |
Fbxw8 |
G |
T |
5: 118,263,092 (GRCm39) |
|
probably null |
Het |
Filip1 |
A |
G |
9: 79,725,214 (GRCm39) |
V1135A |
probably benign |
Het |
Galnt6 |
T |
C |
15: 100,614,059 (GRCm39) |
T81A |
probably benign |
Het |
Ghdc |
T |
C |
11: 100,657,814 (GRCm39) |
K472E |
probably benign |
Het |
Gm10568 |
T |
G |
1: 3,751,164 (GRCm39) |
|
noncoding transcript |
Het |
Gm4953 |
T |
A |
1: 158,995,929 (GRCm39) |
|
noncoding transcript |
Het |
Gm6871 |
T |
A |
7: 41,223,016 (GRCm39) |
H24L |
probably benign |
Het |
Gpr155 |
G |
A |
2: 73,197,882 (GRCm39) |
Q413* |
probably null |
Het |
Grhl2 |
A |
G |
15: 37,291,920 (GRCm39) |
|
probably null |
Het |
Ighv1-31 |
G |
C |
12: 114,793,128 (GRCm39) |
S36* |
probably null |
Het |
Ighv8-5 |
A |
G |
12: 115,031,462 (GRCm39) |
S26P |
probably damaging |
Het |
Igkv17-134 |
A |
C |
6: 67,697,910 (GRCm39) |
|
probably benign |
Het |
Igkv5-48 |
A |
C |
6: 69,703,833 (GRCm39) |
L24R |
probably damaging |
Het |
Isg20l2 |
T |
A |
3: 87,846,570 (GRCm39) |
V340E |
probably damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,221,884 (GRCm39) |
Y447C |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,634,287 (GRCm39) |
S855P |
probably damaging |
Het |
Mgat4e |
A |
T |
1: 134,469,602 (GRCm39) |
N147K |
probably damaging |
Het |
Mlc1 |
A |
G |
15: 88,842,415 (GRCm39) |
L315P |
possibly damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,076,292 (GRCm39) |
V322A |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,567,152 (GRCm39) |
|
probably null |
Het |
Mybpc1 |
T |
A |
10: 88,391,586 (GRCm39) |
K304* |
probably null |
Het |
Nlrp14 |
A |
C |
7: 106,785,790 (GRCm39) |
D622A |
possibly damaging |
Het |
Nlrp1b |
T |
A |
11: 71,108,103 (GRCm39) |
H466L |
probably benign |
Het |
Nlrp4d |
T |
A |
7: 10,112,336 (GRCm39) |
|
noncoding transcript |
Het |
Nrxn3 |
A |
G |
12: 89,227,130 (GRCm39) |
E628G |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,653,870 (GRCm39) |
R530G |
possibly damaging |
Het |
Nup98 |
A |
G |
7: 101,845,007 (GRCm39) |
S21P |
unknown |
Het |
Or2h2b-ps1 |
T |
C |
17: 37,480,934 (GRCm39) |
I202V |
probably benign |
Het |
Or2l13b |
T |
C |
16: 19,348,768 (GRCm39) |
T301A |
probably benign |
Het |
Or4f14b |
A |
T |
2: 111,775,423 (GRCm39) |
I126K |
possibly damaging |
Het |
Or52e8 |
G |
A |
7: 104,624,686 (GRCm39) |
P169S |
possibly damaging |
Het |
Or5k1 |
T |
A |
16: 58,617,805 (GRCm39) |
T135S |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,676 (GRCm39) |
T85A |
probably damaging |
Het |
Or8c11 |
T |
A |
9: 38,290,038 (GRCm39) |
V287E |
probably null |
Het |
Otog |
A |
T |
7: 45,913,486 (GRCm39) |
Y773F |
probably damaging |
Het |
Otog |
A |
T |
7: 45,947,958 (GRCm39) |
I2320F |
probably damaging |
Het |
Otogl |
T |
C |
10: 107,715,378 (GRCm39) |
S433G |
probably benign |
Het |
Pcdhb17 |
A |
T |
18: 37,618,212 (GRCm39) |
M1L |
possibly damaging |
Het |
Pde7b |
T |
A |
10: 20,600,480 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
T |
C |
4: 99,820,724 (GRCm39) |
V207A |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,791,661 (GRCm39) |
V1116E |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,360 (GRCm39) |
Y497F |
possibly damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,812,013 (GRCm39) |
N256S |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,746,020 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,764,585 (GRCm39) |
T732A |
probably benign |
Het |
Prg4 |
T |
A |
1: 150,331,574 (GRCm39) |
|
probably benign |
Het |
Ptpro |
T |
C |
6: 137,345,336 (GRCm39) |
V114A |
probably damaging |
Het |
Pyurf |
A |
G |
6: 57,668,933 (GRCm39) |
S20P |
unknown |
Het |
Rasgrf1 |
A |
G |
9: 89,858,805 (GRCm39) |
T488A |
probably benign |
Het |
Rassf8 |
A |
T |
6: 145,761,006 (GRCm39) |
K111* |
probably null |
Het |
Reps1 |
A |
T |
10: 17,983,436 (GRCm39) |
E426D |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,730,666 (GRCm39) |
K982R |
probably damaging |
Het |
Rps23 |
T |
C |
13: 91,071,871 (GRCm39) |
|
probably null |
Het |
Scamp4 |
T |
A |
10: 80,445,505 (GRCm39) |
V56E |
probably damaging |
Het |
Serpina1c |
C |
T |
12: 103,861,291 (GRCm39) |
V408I |
probably benign |
Het |
Sigirr |
A |
G |
7: 140,673,701 (GRCm39) |
W49R |
probably damaging |
Het |
Slc17a6 |
A |
T |
7: 51,308,489 (GRCm39) |
H271L |
possibly damaging |
Het |
Slc7a5 |
G |
T |
8: 122,611,861 (GRCm39) |
T389K |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,191,999 (GRCm39) |
H945L |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,523,549 (GRCm39) |
S662P |
probably damaging |
Het |
Snta1 |
C |
A |
2: 154,218,938 (GRCm39) |
E466* |
probably null |
Het |
Sowaha |
A |
G |
11: 53,369,272 (GRCm39) |
L488P |
probably damaging |
Het |
Spata17 |
C |
A |
1: 186,926,208 (GRCm39) |
V41F |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,045,429 (GRCm39) |
|
probably null |
Het |
Srrm2 |
T |
A |
17: 24,034,362 (GRCm39) |
|
probably benign |
Het |
Stard13 |
T |
C |
5: 150,985,992 (GRCm39) |
N388S |
probably benign |
Het |
Stmn3 |
T |
C |
2: 180,950,630 (GRCm39) |
K59E |
probably damaging |
Het |
Sval1 |
A |
G |
6: 41,932,378 (GRCm39) |
N76S |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,096,276 (GRCm39) |
H1448R |
possibly damaging |
Het |
Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
Sytl5 |
C |
T |
X: 9,781,841 (GRCm39) |
P181L |
possibly damaging |
Het |
Tbkbp1 |
G |
A |
11: 97,029,956 (GRCm39) |
S400L |
probably benign |
Het |
Tesc |
G |
T |
5: 118,194,531 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
C |
T |
7: 64,993,475 (GRCm39) |
G33R |
probably damaging |
Het |
Tlr11 |
C |
A |
14: 50,600,346 (GRCm39) |
F777L |
probably benign |
Het |
Tmem156 |
A |
G |
5: 65,248,805 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
G |
11: 60,643,204 (GRCm39) |
|
probably benign |
Het |
Tpcn1 |
A |
G |
5: 120,694,584 (GRCm39) |
W162R |
probably damaging |
Het |
Tpd52l2 |
A |
T |
2: 181,157,005 (GRCm39) |
|
probably benign |
Het |
Trim80 |
G |
A |
11: 115,337,281 (GRCm39) |
G381D |
probably damaging |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
Vmn2r56 |
T |
A |
7: 12,449,462 (GRCm39) |
I259F |
possibly damaging |
Het |
Vmn2r59 |
T |
C |
7: 41,693,077 (GRCm39) |
T508A |
probably benign |
Het |
Wdr73 |
A |
G |
7: 80,541,456 (GRCm39) |
V362A |
probably damaging |
Het |
Zdhhc21 |
G |
T |
4: 82,738,568 (GRCm39) |
T207K |
possibly damaging |
Het |
Zfp120 |
T |
A |
2: 149,959,872 (GRCm39) |
Q150L |
probably damaging |
Het |
Zfp212 |
C |
A |
6: 47,908,433 (GRCm39) |
Q471K |
possibly damaging |
Het |
Zfp804b |
C |
T |
5: 6,820,540 (GRCm39) |
G841D |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,878,724 (GRCm39) |
M1884K |
probably damaging |
Het |
Znfx1 |
G |
T |
2: 166,879,402 (GRCm39) |
A1658D |
probably benign |
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 |
|
R1793:Aspm
|
UTSW |
1 |
139,385,079 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- AGCTGGGAATGTGTGTATAAGATGC -3'
(R):5'- ACCCGGTTACTAATATGCTGGG -3'
Sequencing Primer
(F):5'- AATGTGTGTATAAGATGCGTTCAG -3'
(R):5'- TCAGGGCCATGTGCATGCTATAC -3'
|
Posted On |
2016-04-15 |