Incidental Mutation 'R5112:Astn1'
| ID |
393893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
042700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 158484763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 15
(S15F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000192821]
[ENSMUST00000193042]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046110
AA Change: S942F
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: S942F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
EGF
|
462 |
507 |
1.2e1 |
SMART |
|
EGF
|
611 |
652 |
2.29e1 |
SMART |
|
EGF_like
|
659 |
708 |
3.57e1 |
SMART |
|
MACPF
|
811 |
999 |
1.11e-56 |
SMART |
|
FN3
|
1030 |
1142 |
5.75e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192821
|
| SMART Domains |
Protein: ENSMUSP00000141260
Gene: ENSMUSG00000026587
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
46 |
158 |
2.8e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193042
AA Change: S950F
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: S950F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
EGF
|
462 |
507 |
1.2e1 |
SMART |
|
EGF
|
611 |
652 |
2.29e1 |
SMART |
|
EGF_like
|
659 |
708 |
3.57e1 |
SMART |
|
MACPF
|
811 |
999 |
1.11e-56 |
SMART |
|
FN3
|
1030 |
1142 |
5.75e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194217
AA Change: S15F
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195311
AA Change: S942F
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: S942F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
EGF
|
462 |
499 |
2e-2 |
SMART |
|
EGF
|
603 |
644 |
1.1e-1 |
SMART |
|
EGF_like
|
651 |
700 |
1.7e-1 |
SMART |
|
MACPF
|
803 |
991 |
6.2e-59 |
SMART |
|
FN3
|
1022 |
1134 |
2.8e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0947 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]
PHENOTYPE: Homozygous mutation of this gene results in reduced cerebellum size, abnormal Purkinje cell morphology, and reduced coordination performance on the Rotarod test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,328,383 (GRCm39) |
K846R |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,184,465 (GRCm39) |
M80K |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,136,502 (GRCm39) |
K358E |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,893 (GRCm39) |
D532E |
probably benign |
Het |
| Adamts19 |
C |
T |
18: 59,164,876 (GRCm39) |
R993* |
probably null |
Het |
| Akr1c13 |
A |
G |
13: 4,244,151 (GRCm39) |
K68R |
possibly damaging |
Het |
| Amer3 |
T |
A |
1: 34,626,157 (GRCm39) |
M132K |
possibly damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,326 (GRCm39) |
D38G |
possibly damaging |
Het |
| Ano7 |
G |
A |
1: 93,325,085 (GRCm39) |
V546M |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,349,254 (GRCm39) |
|
probably null |
Het |
| Apc |
T |
A |
18: 34,449,162 (GRCm39) |
C1985* |
probably null |
Het |
| Atp13a4 |
A |
T |
16: 29,228,686 (GRCm39) |
N950K |
possibly damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,496 (GRCm39) |
V286A |
probably benign |
Het |
| Brox |
T |
A |
1: 183,073,541 (GRCm39) |
T79S |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,092,692 (GRCm39) |
I512F |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,158,511 (GRCm39) |
L542S |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Card10 |
C |
T |
15: 78,686,580 (GRCm39) |
|
probably null |
Het |
| Cd96 |
A |
G |
16: 45,919,301 (GRCm39) |
M240T |
probably benign |
Het |
| Cdc123 |
A |
G |
2: 5,809,748 (GRCm39) |
L221P |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,882,354 (GRCm39) |
V46A |
possibly damaging |
Het |
| Clcn3 |
G |
A |
8: 61,407,586 (GRCm39) |
H24Y |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,283,062 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
T |
12: 21,341,785 (GRCm39) |
M50L |
probably benign |
Het |
| Csf3 |
T |
A |
11: 98,593,749 (GRCm39) |
L197Q |
probably damaging |
Het |
| Ctsw |
T |
A |
19: 5,516,285 (GRCm39) |
D196V |
probably damaging |
Het |
| Dcun1d3 |
A |
T |
7: 119,457,250 (GRCm39) |
I154K |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 35,993,377 (GRCm39) |
T877A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,950,012 (GRCm39) |
L1944I |
probably benign |
Het |
| Dpf3 |
G |
T |
12: 83,417,385 (GRCm39) |
S29* |
probably null |
Het |
| Ephb1 |
A |
G |
9: 101,848,378 (GRCm39) |
I640T |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,477,319 (GRCm39) |
G2099S |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,454,906 (GRCm39) |
N667K |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gart |
A |
T |
16: 91,430,933 (GRCm39) |
D376E |
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,836,740 (GRCm39) |
Q475* |
probably null |
Het |
| Gm28051 |
G |
A |
12: 102,686,430 (GRCm39) |
Q77* |
probably null |
Het |
| Gnmt |
C |
A |
17: 47,037,256 (GRCm39) |
R176L |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,110,629 (GRCm39) |
V210D |
possibly damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,431,038 (GRCm39) |
D339E |
probably damaging |
Het |
| Hmbox1 |
A |
G |
14: 65,063,061 (GRCm39) |
Y372H |
probably damaging |
Het |
| Ier2 |
G |
T |
8: 85,389,361 (GRCm39) |
A7E |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,634,691 (GRCm39) |
T311A |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,179 (GRCm39) |
|
probably null |
Het |
| Insl6 |
G |
A |
19: 29,298,996 (GRCm39) |
Q139* |
probably null |
Het |
| Itga2b |
A |
T |
11: 102,349,017 (GRCm39) |
I729K |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,135,489 (GRCm39) |
M1814K |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,166,703 (GRCm39) |
S429F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,725,865 (GRCm39) |
N129S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,132,678 (GRCm39) |
T28M |
probably benign |
Het |
| Ly86 |
G |
T |
13: 37,559,013 (GRCm39) |
G71C |
probably damaging |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,818 (GRCm39) |
S443G |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,229 (GRCm39) |
H376R |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myo7b |
T |
C |
18: 32,116,640 (GRCm39) |
H989R |
probably damaging |
Het |
| Neil2 |
A |
G |
14: 63,425,909 (GRCm39) |
W154R |
probably damaging |
Het |
| Nlrp12 |
G |
A |
7: 3,289,613 (GRCm39) |
H300Y |
possibly damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,439,554 (GRCm39) |
Y377F |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,008,952 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
T |
15: 44,240,039 (GRCm39) |
C500* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,180 (GRCm39) |
V26A |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,353 (GRCm39) |
V309A |
probably damaging |
Het |
| Or8g18 |
A |
G |
9: 39,149,717 (GRCm39) |
M1T |
probably null |
Het |
| Or8h9 |
A |
T |
2: 86,789,698 (GRCm39) |
Y35N |
probably damaging |
Het |
| Pabpc6 |
T |
A |
17: 9,888,540 (GRCm39) |
S4C |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,464 (GRCm39) |
R835* |
probably null |
Het |
| Parp9 |
G |
A |
16: 35,784,683 (GRCm39) |
V346I |
probably damaging |
Het |
| Pcbp4 |
C |
T |
9: 106,337,917 (GRCm39) |
T69M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,896 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
A |
T |
7: 24,324,110 (GRCm39) |
I495F |
possibly damaging |
Het |
| Plce1 |
G |
T |
19: 38,640,277 (GRCm39) |
V508F |
probably benign |
Het |
| Pmpca |
A |
T |
2: 26,285,178 (GRCm39) |
I468F |
probably damaging |
Het |
| Pmpcb |
G |
A |
5: 21,961,441 (GRCm39) |
R399H |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,022,037 (GRCm39) |
S544P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,326 (GRCm39) |
D1274E |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,733,010 (GRCm39) |
V612E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,366,982 (GRCm39) |
H639Q |
probably benign |
Het |
| Sell |
T |
A |
1: 163,892,887 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,226 (GRCm39) |
D347G |
probably benign |
Het |
| Sgip1 |
G |
A |
4: 102,726,966 (GRCm39) |
D81N |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,144 (GRCm39) |
I940F |
possibly damaging |
Het |
| Slc25a34 |
T |
A |
4: 141,348,769 (GRCm39) |
I232L |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,039,399 (GRCm39) |
K76N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,225,087 (GRCm39) |
D58E |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Svep1 |
G |
A |
4: 58,068,610 (GRCm39) |
Q3059* |
probably null |
Het |
| Syce1l |
A |
C |
8: 114,378,274 (GRCm39) |
H56P |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,503 (GRCm39) |
V814A |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,597,740 (GRCm39) |
I265F |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,890,852 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
T |
C |
15: 83,380,597 (GRCm39) |
H256R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttyh2 |
A |
T |
11: 114,587,583 (GRCm39) |
T195S |
probably benign |
Het |
| Unc119b |
A |
G |
5: 115,263,553 (GRCm39) |
L217P |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,231 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,425,714 (GRCm39) |
K152E |
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,941 (GRCm39) |
R486G |
probably benign |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,544 (GRCm39) |
Q400P |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,292 (GRCm39) |
V706D |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,422 (GRCm39) |
L388Q |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,383,208 (GRCm39) |
Y603F |
probably damaging |
Het |
| Zfp850 |
A |
T |
7: 27,689,658 (GRCm39) |
C183* |
probably null |
Het |
|
| Other mutations in Astn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Astn1
|
APN |
1 |
158,427,889 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01705:Astn1
|
APN |
1 |
158,331,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Astn1
|
APN |
1 |
158,407,897 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01962:Astn1
|
APN |
1 |
158,496,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02000:Astn1
|
APN |
1 |
158,502,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02119:Astn1
|
APN |
1 |
158,338,724 (GRCm39) |
intron |
probably benign |
|
|
IGL02168:Astn1
|
APN |
1 |
158,436,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02239:Astn1
|
APN |
1 |
158,491,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02271:Astn1
|
APN |
1 |
158,338,520 (GRCm39) |
splice site |
probably benign |
|
|
IGL02307:Astn1
|
APN |
1 |
158,502,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02504:Astn1
|
APN |
1 |
158,329,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Astn1
|
APN |
1 |
158,332,965 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02903:Astn1
|
APN |
1 |
158,516,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03003:Astn1
|
APN |
1 |
158,439,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03007:Astn1
|
APN |
1 |
158,496,193 (GRCm39) |
splice site |
probably benign |
|
|
IGL03354:Astn1
|
APN |
1 |
158,516,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Astn1
|
UTSW |
1 |
158,424,781 (GRCm39) |
missense |
probably benign |
0.23 |
|
PIT4366001:Astn1
|
UTSW |
1 |
158,424,779 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0024:Astn1
|
UTSW |
1 |
158,511,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0050:Astn1
|
UTSW |
1 |
158,407,294 (GRCm39) |
splice site |
probably benign |
|
|
R0099:Astn1
|
UTSW |
1 |
158,329,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Astn1
|
UTSW |
1 |
158,491,674 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0109:Astn1
|
UTSW |
1 |
158,491,674 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0365:Astn1
|
UTSW |
1 |
158,516,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Astn1
|
UTSW |
1 |
158,337,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Astn1
|
UTSW |
1 |
158,427,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0735:Astn1
|
UTSW |
1 |
158,299,959 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0763:Astn1
|
UTSW |
1 |
158,337,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0899:Astn1
|
UTSW |
1 |
158,338,679 (GRCm39) |
nonsense |
probably null |
|
|
R1027:Astn1
|
UTSW |
1 |
158,407,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Astn1
|
UTSW |
1 |
158,427,935 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1474:Astn1
|
UTSW |
1 |
158,329,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Astn1
|
UTSW |
1 |
158,407,146 (GRCm39) |
splice site |
probably benign |
|
|
R1701:Astn1
|
UTSW |
1 |
158,331,877 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1764:Astn1
|
UTSW |
1 |
158,331,821 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1860:Astn1
|
UTSW |
1 |
158,429,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Astn1
|
UTSW |
1 |
158,332,886 (GRCm39) |
splice site |
probably null |
|
|
R1919:Astn1
|
UTSW |
1 |
158,337,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Astn1
|
UTSW |
1 |
158,348,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Astn1
|
UTSW |
1 |
158,436,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2038:Astn1
|
UTSW |
1 |
158,484,690 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2044:Astn1
|
UTSW |
1 |
158,428,072 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2084:Astn1
|
UTSW |
1 |
158,299,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2094:Astn1
|
UTSW |
1 |
158,495,179 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2163:Astn1
|
UTSW |
1 |
158,329,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2211:Astn1
|
UTSW |
1 |
158,484,876 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2268:Astn1
|
UTSW |
1 |
158,329,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Astn1
|
UTSW |
1 |
158,329,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Astn1
|
UTSW |
1 |
158,407,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2428:Astn1
|
UTSW |
1 |
158,439,916 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2980:Astn1
|
UTSW |
1 |
158,400,521 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3713:Astn1
|
UTSW |
1 |
158,495,102 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3745:Astn1
|
UTSW |
1 |
158,329,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3926:Astn1
|
UTSW |
1 |
158,407,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4345:Astn1
|
UTSW |
1 |
158,329,602 (GRCm39) |
splice site |
probably null |
|
|
R4625:Astn1
|
UTSW |
1 |
158,407,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Astn1
|
UTSW |
1 |
158,329,821 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4970:Astn1
|
UTSW |
1 |
158,484,763 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5257:Astn1
|
UTSW |
1 |
158,440,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Astn1
|
UTSW |
1 |
158,407,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5889:Astn1
|
UTSW |
1 |
158,427,950 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5909:Astn1
|
UTSW |
1 |
158,429,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Astn1
|
UTSW |
1 |
158,337,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Astn1
|
UTSW |
1 |
158,491,691 (GRCm39) |
nonsense |
probably null |
|
|
R6481:Astn1
|
UTSW |
1 |
158,440,032 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6736:Astn1
|
UTSW |
1 |
158,338,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6833:Astn1
|
UTSW |
1 |
158,491,692 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6834:Astn1
|
UTSW |
1 |
158,491,692 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6860:Astn1
|
UTSW |
1 |
158,440,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Astn1
|
UTSW |
1 |
158,491,644 (GRCm39) |
nonsense |
probably null |
|
|
R7062:Astn1
|
UTSW |
1 |
158,516,081 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7133:Astn1
|
UTSW |
1 |
158,400,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Astn1
|
UTSW |
1 |
158,491,846 (GRCm39) |
splice site |
probably null |
|
|
R7402:Astn1
|
UTSW |
1 |
158,380,425 (GRCm39) |
intron |
probably benign |
|
|
R7412:Astn1
|
UTSW |
1 |
158,329,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7487:Astn1
|
UTSW |
1 |
158,438,352 (GRCm39) |
splice site |
probably null |
|
|
R7537:Astn1
|
UTSW |
1 |
158,495,208 (GRCm39) |
splice site |
probably null |
|
|
R7537:Astn1
|
UTSW |
1 |
158,332,956 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7635:Astn1
|
UTSW |
1 |
158,495,105 (GRCm39) |
nonsense |
probably null |
|
|
R7890:Astn1
|
UTSW |
1 |
158,407,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Astn1
|
UTSW |
1 |
158,429,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7904:Astn1
|
UTSW |
1 |
158,424,886 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8048:Astn1
|
UTSW |
1 |
158,516,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8061:Astn1
|
UTSW |
1 |
158,331,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8096:Astn1
|
UTSW |
1 |
158,436,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Astn1
|
UTSW |
1 |
158,436,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Astn1
|
UTSW |
1 |
158,329,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Astn1
|
UTSW |
1 |
158,484,670 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8983:Astn1
|
UTSW |
1 |
158,491,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9013:Astn1
|
UTSW |
1 |
158,348,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Astn1
|
UTSW |
1 |
158,496,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9156:Astn1
|
UTSW |
1 |
158,338,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9355:Astn1
|
UTSW |
1 |
158,511,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Astn1
|
UTSW |
1 |
158,491,619 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Astn1
|
UTSW |
1 |
158,511,666 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Astn1
|
UTSW |
1 |
158,424,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Astn1
|
UTSW |
1 |
158,300,067 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAGCCACCAAGTCATG -3'
(R):5'- CAAAACGATTCTGCAGCTGG -3'
Sequencing Primer
(F):5'- CCAAGTCATGGCAATCCTTG -3'
(R):5'- CGATTCTGCAGCTGGGTTGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation