Incidental Mutation 'R6020:Astn1'
| ID |
478839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 158337563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 423
(D423G)
|
| 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: D423G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: D423G
| 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 |
possibly damaging
Transcript: ENSMUST00000170718
AA Change: D423G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: D423G
| 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: ENSMUST00000192619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192868
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193042
AA Change: D423G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: D423G
| 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: ENSMUST00000194369
AA Change: D423G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: D423G
| 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: D423G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: D423G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
A |
11: 110,036,439 (GRCm39) |
V557F |
possibly damaging |
Het |
| Abi3 |
A |
T |
11: 95,732,851 (GRCm39) |
L41* |
probably null |
Het |
| Actn1 |
C |
A |
12: 80,221,229 (GRCm39) |
|
probably null |
Het |
| Adamts15 |
G |
T |
9: 30,813,358 (GRCm39) |
R936S |
probably benign |
Het |
| Angel2 |
T |
C |
1: 190,665,068 (GRCm39) |
S22P |
probably benign |
Het |
| Ank2 |
T |
G |
3: 126,740,470 (GRCm39) |
|
probably benign |
Het |
| Casp9 |
A |
G |
4: 141,523,849 (GRCm39) |
D78G |
probably damaging |
Het |
| Cbr4 |
A |
G |
8: 61,940,887 (GRCm39) |
D2G |
probably benign |
Het |
| Ccdc8 |
T |
A |
7: 16,730,506 (GRCm39) |
L665H |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,105 (GRCm39) |
N1847I |
probably damaging |
Het |
| Cnst |
T |
C |
1: 179,437,440 (GRCm39) |
W335R |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,832,671 (GRCm39) |
I130F |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,391,665 (GRCm39) |
A677T |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,772,205 (GRCm39) |
W488L |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,763 (GRCm39) |
I637S |
probably damaging |
Het |
| Etv3 |
A |
G |
3: 87,436,671 (GRCm39) |
D142G |
probably benign |
Het |
| Fabp5 |
C |
T |
3: 10,081,149 (GRCm39) |
T126I |
probably benign |
Het |
| Fam13b |
A |
C |
18: 34,627,827 (GRCm39) |
Y125D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,822,471 (GRCm39) |
P6068Q |
probably damaging |
Het |
| Gm11232 |
A |
G |
4: 71,674,905 (GRCm39) |
F199S |
possibly damaging |
Het |
| Gm5493 |
A |
G |
17: 22,967,034 (GRCm39) |
K57E |
probably benign |
Het |
| Gm7334 |
A |
G |
17: 51,006,265 (GRCm39) |
M184V |
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,911,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
T |
A |
2: 57,254,525 (GRCm39) |
N674K |
probably benign |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,959 (GRCm39) |
Y141C |
probably damaging |
Het |
| Heatr5a |
C |
T |
12: 51,931,110 (GRCm39) |
E1796K |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,118 (GRCm39) |
T57A |
probably benign |
Het |
| Hrg |
A |
T |
16: 22,773,268 (GRCm39) |
N134Y |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,322 (GRCm39) |
T262A |
probably damaging |
Het |
| Irak3 |
G |
T |
10: 119,979,042 (GRCm39) |
P470T |
probably damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,083,977 (GRCm39) |
D285V |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,502,863 (GRCm39) |
V164E |
probably benign |
Het |
| Klhdc7b |
T |
A |
15: 89,272,589 (GRCm39) |
M1157K |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,571,986 (GRCm39) |
G247D |
possibly damaging |
Het |
| Mdc1 |
G |
A |
17: 36,159,525 (GRCm39) |
G635D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,168,464 (GRCm39) |
K1690R |
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,909,365 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,097,075 (GRCm39) |
H2285N |
probably benign |
Het |
| Neb |
T |
A |
2: 52,147,839 (GRCm39) |
T2727S |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,483 (GRCm39) |
D234G |
possibly damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,084,150 (GRCm39) |
I476M |
probably benign |
Het |
| Nrsn1 |
T |
G |
13: 25,437,355 (GRCm39) |
Q191P |
probably damaging |
Het |
| Or14j10 |
A |
T |
17: 37,934,858 (GRCm39) |
S223T |
possibly damaging |
Het |
| Or1e30 |
C |
T |
11: 73,678,378 (GRCm39) |
L205F |
probably benign |
Het |
| Or51ag1 |
T |
A |
7: 103,156,006 (GRCm39) |
H49L |
probably benign |
Het |
| Patl1 |
T |
G |
19: 11,914,718 (GRCm39) |
L623R |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,209,117 (GRCm39) |
I200T |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,775,742 (GRCm39) |
D370G |
probably benign |
Het |
| Pglyrp3 |
A |
T |
3: 91,938,841 (GRCm39) |
I339F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,945,679 (GRCm39) |
V2070A |
probably damaging |
Het |
| Poln |
G |
A |
5: 34,266,775 (GRCm39) |
R461C |
probably damaging |
Het |
| Prl2b1 |
C |
A |
13: 27,567,491 (GRCm39) |
V218L |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,263,428 (GRCm39) |
D55G |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,692 (GRCm39) |
F152S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,898,110 (GRCm39) |
S115P |
probably damaging |
Het |
| Slc17a1 |
T |
A |
13: 24,059,593 (GRCm39) |
I108K |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,189,054 (GRCm39) |
D223G |
probably damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,500,342 (GRCm39) |
N69K |
probably benign |
Het |
| Slc51a |
T |
G |
16: 32,298,584 (GRCm39) |
T58P |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,261 (GRCm39) |
H448R |
probably benign |
Het |
| Smc3 |
G |
A |
19: 53,613,594 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
T |
7: 115,085,863 (GRCm39) |
D659E |
probably damaging |
Het |
| Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
| Tsr1 |
C |
T |
11: 74,791,119 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
T |
C |
9: 49,354,422 (GRCm39) |
K565E |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,452,768 (GRCm39) |
V386E |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,460,293 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
A |
6: 124,794,576 (GRCm39) |
|
probably benign |
Het |
| Vmn1r216 |
T |
C |
13: 23,284,105 (GRCm39) |
F263L |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,655,606 (GRCm39) |
L606* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,426,554 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,519,159 (GRCm39) |
Y94H |
probably damaging |
Het |
| Zfp385c |
G |
A |
11: 100,523,594 (GRCm39) |
P120L |
probably benign |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,228 (GRCm39) |
F62S |
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 |
|
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 |
|
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 |
|
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'- TCTGTTTGCTGGCAGAAGGC -3'
(R):5'- GTATTGGAGATGACCTGTCACG -3'
Sequencing Primer
(F):5'- CAGAAGGCCGAGTCATCTG -3'
(R):5'- GAGATGACCTGTCACGTTTTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation