Incidental Mutation 'R0309:Aspm'
| ID |
25020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aspm
|
| Ensembl Gene |
ENSMUSG00000033952 |
| Gene Name |
abnormal spindle microtubule assembly |
| Synonyms |
Sha1, D330028K02Rik, Calmbp1, MCPH5, Aspm |
| MMRRC Submission |
038519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0309 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139382510-139421829 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 139410249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053364]
[ENSMUST00000200083]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053364
|
| SMART Domains |
Protein: ENSMUSP00000059159
Gene: ENSMUSG00000033952
| 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 benign
Transcript: ENSMUST00000200083
|
| SMART Domains |
Protein: ENSMUSP00000142880
Gene: ENSMUSG00000033952
| 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 |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.6%
- 10x: 94.3%
- 20x: 86.4%
|
| Validation Efficiency |
98% (125/127) |
| 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: 126 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,266,271 (GRCm39) |
D133G |
possibly damaging |
Het |
| Abcb4 |
A |
C |
5: 8,989,835 (GRCm39) |
D796A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,496,896 (GRCm39) |
V147E |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,877,001 (GRCm39) |
T534P |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,336,959 (GRCm39) |
T249A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,859 (GRCm39) |
I381N |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,119,038 (GRCm39) |
D3515G |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,922,706 (GRCm39) |
V249A |
probably benign |
Het |
| Ank |
A |
G |
15: 27,567,658 (GRCm39) |
T294A |
possibly damaging |
Het |
| Ank1 |
A |
T |
8: 23,594,825 (GRCm39) |
H204L |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,468,331 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,208,424 (GRCm39) |
S15T |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,062,554 (GRCm39) |
E651G |
probably damaging |
Het |
| B3gnt2 |
A |
T |
11: 22,786,860 (GRCm39) |
F109L |
probably damaging |
Het |
| Bpifb4 |
T |
C |
2: 153,801,603 (GRCm39) |
F575L |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 33,920,043 (GRCm39) |
W75R |
probably damaging |
Het |
| Calr |
C |
A |
8: 85,569,660 (GRCm39) |
K322N |
probably benign |
Het |
| Ccdc188 |
T |
C |
16: 18,037,169 (GRCm39) |
S247P |
possibly damaging |
Het |
| Cdr1 |
T |
A |
X: 60,228,908 (GRCm39) |
D86V |
unknown |
Het |
| Cep97 |
C |
T |
16: 55,745,421 (GRCm39) |
V48I |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,681,399 (GRCm39) |
C6S |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,247,844 (GRCm39) |
D920N |
probably damaging |
Het |
| Clk1 |
T |
C |
1: 58,452,192 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,905,250 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,507,293 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
G |
T |
19: 47,659,801 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
T |
A |
7: 118,128,940 (GRCm39) |
I32F |
possibly damaging |
Het |
| Cox6a2 |
A |
T |
7: 127,805,107 (GRCm39) |
F59I |
probably damaging |
Het |
| Cpq |
A |
G |
15: 33,594,297 (GRCm39) |
D436G |
probably damaging |
Het |
| Ctso |
G |
A |
3: 81,852,168 (GRCm39) |
|
probably null |
Het |
| Cxadr |
A |
T |
16: 78,131,836 (GRCm39) |
H274L |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,495 (GRCm39) |
C367S |
possibly damaging |
Het |
| Cyp2c70 |
T |
G |
19: 40,149,115 (GRCm39) |
M344L |
possibly damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,871 (GRCm39) |
V77I |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,310 (GRCm39) |
Y432H |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,341,441 (GRCm39) |
D601E |
probably benign |
Het |
| Dnah7a |
C |
G |
1: 53,444,849 (GRCm39) |
D3952H |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,917,798 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
C |
A |
1: 132,384,602 (GRCm39) |
|
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,303,469 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,598 (GRCm39) |
E287G |
possibly damaging |
Het |
| Epgn |
A |
G |
5: 91,180,073 (GRCm39) |
T87A |
probably benign |
Het |
| Erc2 |
A |
C |
14: 27,863,182 (GRCm39) |
E803A |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,446,011 (GRCm39) |
*454W |
probably null |
Het |
| Glyr1 |
T |
C |
16: 4,849,836 (GRCm39) |
D179G |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,173 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
C |
A |
14: 101,967,129 (GRCm39) |
|
probably benign |
Het |
| Gsta3 |
C |
T |
1: 21,335,118 (GRCm39) |
P200S |
possibly damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,288,200 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,762 (GRCm39) |
K15E |
probably damaging |
Het |
| Kcnip2 |
T |
A |
19: 45,782,514 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,263,804 (GRCm39) |
V696A |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,107,587 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
T |
G |
14: 51,128,868 (GRCm39) |
H787P |
probably damaging |
Het |
| Klk14 |
A |
T |
7: 43,343,769 (GRCm39) |
T159S |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,117 (GRCm39) |
N16D |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,773,015 (GRCm39) |
N583S |
possibly damaging |
Het |
| Map3k4 |
TGCTGGCTTCAGGGCCACAGTCCGCTG |
TGCTG |
17: 12,489,902 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
G |
4: 118,303,235 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,472,592 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
C |
16: 34,732,667 (GRCm39) |
|
probably benign |
Het |
| Myof |
A |
T |
19: 37,969,714 (GRCm39) |
M316K |
probably benign |
Het |
| Nfib |
T |
A |
4: 82,214,974 (GRCm39) |
N543I |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,448,403 (GRCm39) |
S375P |
probably damaging |
Het |
| Nkrf |
T |
C |
X: 36,153,769 (GRCm39) |
Q171R |
probably damaging |
Het |
| Nmnat2 |
T |
A |
1: 152,952,747 (GRCm39) |
|
probably benign |
Het |
| Npffr2 |
G |
A |
5: 89,731,206 (GRCm39) |
E379K |
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,640,904 (GRCm39) |
|
probably benign |
Het |
| Nup98 |
A |
C |
7: 101,801,635 (GRCm39) |
D212E |
probably null |
Het |
| Nwd2 |
T |
C |
5: 63,964,561 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,912 (GRCm39) |
R451G |
possibly damaging |
Het |
| Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,008 (GRCm39) |
D87G |
probably benign |
Het |
| Pabpc1 |
C |
T |
15: 36,597,737 (GRCm39) |
A551T |
possibly damaging |
Het |
| Pard3 |
A |
T |
8: 128,103,378 (GRCm39) |
|
probably benign |
Het |
| Pcdhb12 |
G |
T |
18: 37,569,174 (GRCm39) |
V107L |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,747,677 (GRCm39) |
V22D |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,724,315 (GRCm39) |
V2396A |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,877,207 (GRCm39) |
I167T |
probably damaging |
Het |
| Pphln1 |
A |
T |
15: 93,339,588 (GRCm39) |
H114L |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,756,687 (GRCm39) |
N444S |
probably damaging |
Het |
| Prdm9 |
G |
A |
17: 15,777,646 (GRCm39) |
T146I |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,369,891 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,140,128 (GRCm39) |
D26G |
possibly damaging |
Het |
| Ptpn5 |
T |
C |
7: 46,729,042 (GRCm39) |
E495G |
probably damaging |
Het |
| Rab23 |
A |
C |
1: 33,773,942 (GRCm39) |
|
probably null |
Het |
| Ralgps1 |
C |
T |
2: 33,047,935 (GRCm39) |
M348I |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,315,690 (GRCm39) |
T2137A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,056,374 (GRCm39) |
G654V |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,269,020 (GRCm39) |
|
probably benign |
Het |
| Reg2 |
G |
A |
6: 78,383,169 (GRCm39) |
A39T |
possibly damaging |
Het |
| Sema4d |
C |
A |
13: 51,879,347 (GRCm39) |
V7F |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,354 (GRCm39) |
|
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,949,216 (GRCm39) |
|
probably null |
Het |
| Shisa9 |
G |
A |
16: 11,814,987 (GRCm39) |
V212M |
probably damaging |
Het |
| Shq1 |
G |
A |
6: 100,550,588 (GRCm39) |
P450L |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,018,196 (GRCm39) |
T872A |
probably benign |
Het |
| Sipa1l3 |
C |
T |
7: 29,047,775 (GRCm39) |
R1371Q |
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,796,064 (GRCm39) |
V246A |
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,022,985 (GRCm39) |
V386D |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,348,034 (GRCm39) |
T253S |
probably benign |
Het |
| Slc2a7 |
G |
A |
4: 150,242,528 (GRCm39) |
|
probably benign |
Het |
| Slc35a2 |
T |
A |
X: 7,755,901 (GRCm39) |
Y48N |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,344 (GRCm39) |
S413I |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,276,772 (GRCm39) |
T427A |
probably benign |
Het |
| Soat1 |
T |
C |
1: 156,270,023 (GRCm39) |
Y132C |
probably damaging |
Het |
| Stn1 |
G |
T |
19: 47,490,112 (GRCm39) |
H342N |
probably benign |
Het |
| Tarbp1 |
T |
A |
8: 127,165,667 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
A |
C |
6: 132,870,341 (GRCm39) |
K123T |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,440,168 (GRCm39) |
Q504* |
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,794,069 (GRCm39) |
C380Y |
probably damaging |
Het |
| Tent4a |
A |
T |
13: 69,648,051 (GRCm39) |
V781E |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,860,740 (GRCm39) |
D1389G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,958,130 (GRCm39) |
F780I |
probably damaging |
Het |
| Tubb4a |
G |
T |
17: 57,388,182 (GRCm39) |
Y281* |
probably null |
Het |
| Txndc15 |
T |
C |
13: 55,872,395 (GRCm39) |
F261S |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,557,530 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
C |
3: 141,439,694 (GRCm39) |
V196L |
probably benign |
Het |
| Upf3a |
G |
A |
8: 13,845,500 (GRCm39) |
|
probably null |
Het |
| Vmn2r20 |
T |
C |
6: 123,363,063 (GRCm39) |
K574E |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,536,853 (GRCm39) |
M275V |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,346,735 (GRCm39) |
|
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,276,182 (GRCm39) |
L505S |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,366,722 (GRCm39) |
I567T |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,897,558 (GRCm39) |
|
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 |
|
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 |
139,406,710 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1386:Aspm
|
UTSW |
1 |
139,385,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
|
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'- CGGTCAGTCTGGTAGAGCATAAACCAA -3'
(R):5'- CATACACAGACCACCCACagaaaagaaa -3'
Sequencing Primer
(F):5'- TGGTAGAGCATAAACCAACTTGAC -3'
(R):5'- CACCCACagaaaagaaaagaaaag -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation