Incidental Mutation 'R2163:Astn1'
| ID |
235251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
040166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2163 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158329720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 192
(S192G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046110
AA Change: S192G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: S192G
| 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 |
noncoding transcript
Transcript: ENSMUST00000093595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170718
AA Change: S192G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: S192G
| 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 |
|
Blast:MACPF
|
811 |
835 |
3e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192868
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193042
AA Change: S192G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: S192G
| 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: ENSMUST00000194369
AA Change: S192G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: S192G
| 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 |
|
Blast:MACPF
|
803 |
828 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195311
AA Change: S192G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: S192G
| 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 |
0.1318 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (76/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
C |
A |
14: 67,175,997 (GRCm39) |
T64K |
unknown |
Het |
| Ablim2 |
T |
C |
5: 35,959,697 (GRCm39) |
|
probably benign |
Het |
| Acp4 |
T |
C |
7: 43,905,400 (GRCm39) |
D107G |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,679,632 (GRCm39) |
C871S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 89,856,577 (GRCm39) |
V332A |
probably damaging |
Het |
| Alkal1 |
C |
T |
1: 6,459,736 (GRCm39) |
T104M |
probably benign |
Het |
| Axdnd1 |
A |
C |
1: 156,219,573 (GRCm39) |
V337G |
probably damaging |
Het |
| Baiap2l2 |
T |
C |
15: 79,143,395 (GRCm39) |
D481G |
possibly damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,567,317 (GRCm39) |
T964I |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,186,645 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,230,656 (GRCm39) |
D295G |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,375,713 (GRCm39) |
T84A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,436,275 (GRCm39) |
H2508L |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,192 (GRCm39) |
T284S |
probably damaging |
Het |
| Chtop |
A |
T |
3: 90,409,518 (GRCm39) |
M125K |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,308,041 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,232,735 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,810 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
G |
A |
19: 40,149,163 (GRCm39) |
H328Y |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,162,452 (GRCm39) |
T77A |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,066,729 (GRCm39) |
|
probably null |
Het |
| Efhd1 |
A |
T |
1: 87,217,195 (GRCm39) |
D104V |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,087,875 (GRCm39) |
D957V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,227,866 (GRCm39) |
S549R |
probably damaging |
Het |
| Fbxo3 |
C |
A |
2: 103,885,330 (GRCm39) |
H400N |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,264 (GRCm39) |
V86A |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,406 (GRCm39) |
M148T |
possibly damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,586 (GRCm39) |
H466N |
unknown |
Het |
| Gadl1 |
T |
A |
9: 115,778,626 (GRCm39) |
I180N |
possibly damaging |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm21718 |
T |
C |
14: 51,555,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep2 |
T |
A |
10: 14,003,970 (GRCm39) |
Y189* |
probably null |
Het |
| Hoxd13 |
T |
A |
2: 74,499,413 (GRCm39) |
S254T |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,117,697 (GRCm39) |
|
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,334,023 (GRCm39) |
M198V |
probably benign |
Het |
| Katnal1 |
T |
A |
5: 148,825,746 (GRCm39) |
I362F |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,376,804 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,291 (GRCm39) |
|
probably null |
Het |
| Nell2 |
G |
T |
15: 95,327,859 (GRCm39) |
N301K |
probably damaging |
Het |
| Nenf |
T |
A |
1: 191,042,132 (GRCm39) |
D108V |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,581 (GRCm39) |
N293S |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,366,403 (GRCm39) |
K1229E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,822 (GRCm39) |
F631L |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,352 (GRCm39) |
V705E |
probably damaging |
Het |
| Nsf |
G |
C |
11: 103,754,159 (GRCm39) |
A459G |
possibly damaging |
Het |
| Or1af1 |
A |
G |
2: 37,110,089 (GRCm39) |
E196G |
probably damaging |
Het |
| Or5w10 |
A |
G |
2: 87,375,238 (GRCm39) |
S217P |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,775,341 (GRCm39) |
D490N |
possibly damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,226 (GRCm39) |
Y192F |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,603,543 (GRCm39) |
|
probably benign |
Het |
| Ppara |
A |
G |
15: 85,685,247 (GRCm39) |
K399E |
probably benign |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,047 (GRCm39) |
N169K |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,171,505 (GRCm39) |
E632V |
possibly damaging |
Het |
| Rpap3 |
T |
A |
15: 97,578,229 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,611 (GRCm39) |
K263N |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,526,826 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
G |
9: 119,584,091 (GRCm39) |
D1508A |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,300 (GRCm39) |
T1530A |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,034,108 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
G |
5: 89,362,435 (GRCm39) |
I840V |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,926,664 (GRCm39) |
T554I |
possibly damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,505,478 (GRCm39) |
V419D |
probably benign |
Het |
| Sltm |
T |
A |
9: 70,498,964 (GRCm39) |
F1013I |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,846 (GRCm39) |
K266E |
probably benign |
Het |
| Syt15 |
A |
G |
14: 33,948,073 (GRCm39) |
E306G |
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,408,447 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
G |
C |
11: 119,045,904 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,642,845 (GRCm39) |
T13264A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,757 (GRCm39) |
F131Y |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,923,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,306,462 (GRCm39) |
L288P |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,352 (GRCm39) |
Y92H |
probably benign |
Het |
| Wdpcp |
G |
T |
11: 21,835,015 (GRCm39) |
E673* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,162,309 (GRCm39) |
L820I |
probably damaging |
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 |
|
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 |
|
R5112: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'- AGATGTACCTATGACACTGTGGG -3'
(R):5'- GTGTGACCTGACTGGCAAAG -3'
Sequencing Primer
(F):5'- ACACTGTGGGGAGAGCTTATC -3'
(R):5'- ATACACTCCCTTTGCAGGTGGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation