Incidental Mutation 'R1764:Astn1'
| ID |
193247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
039796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158331821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 305
(I305T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046110
AA Change: I305T
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: I305T
| 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: I305T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: I305T
| 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 benign
Transcript: ENSMUST00000193042
AA Change: I305T
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: I305T
| 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: I305T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: I305T
| 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 benign
Transcript: ENSMUST00000195311
AA Change: I305T
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: I305T
| 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 |
0.3873 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.2%
|
| Validation Efficiency |
94% (94/100) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
G |
5: 109,884,655 (GRCm39) |
V401A |
probably benign |
Het |
| Abca7 |
G |
T |
10: 79,844,784 (GRCm39) |
W1502L |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,035,468 (GRCm39) |
E124G |
probably benign |
Het |
| Aif1l |
G |
A |
2: 31,855,118 (GRCm39) |
E66K |
probably benign |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,392 (GRCm39) |
M373L |
probably benign |
Het |
| Alg6 |
T |
C |
4: 99,629,815 (GRCm39) |
Y131H |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Arrdc4 |
A |
T |
7: 68,391,622 (GRCm39) |
I215K |
probably damaging |
Het |
| Asb4 |
A |
G |
6: 5,390,798 (GRCm39) |
|
probably null |
Het |
| Atp5f1b |
T |
A |
10: 127,919,949 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
C |
A |
5: 67,788,910 (GRCm39) |
M1044I |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,952,806 (GRCm39) |
|
probably null |
Het |
| Brd10 |
T |
A |
19: 29,696,560 (GRCm39) |
T978S |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,928,518 (GRCm39) |
H113R |
probably benign |
Het |
| C87436 |
G |
T |
6: 86,430,594 (GRCm39) |
C338F |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
| Cbr3 |
T |
A |
16: 93,487,370 (GRCm39) |
H184Q |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,097 (GRCm39) |
S271P |
possibly damaging |
Het |
| Cdc34 |
A |
G |
10: 79,521,174 (GRCm39) |
K77R |
probably benign |
Het |
| Cdc34 |
G |
T |
10: 79,521,172 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
A |
G |
1: 104,862,070 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,706,157 (GRCm39) |
E880G |
probably damaging |
Het |
| Cers1 |
T |
G |
8: 70,774,141 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
T |
C |
9: 9,673,988 (GRCm39) |
I705V |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,721,247 (GRCm39) |
D636E |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,154,560 (GRCm39) |
E240G |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,314,369 (GRCm39) |
Y4100C |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,496,583 (GRCm39) |
E151G |
probably damaging |
Het |
| Efcab9 |
T |
G |
11: 32,474,457 (GRCm39) |
T9P |
possibly damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,694 (GRCm39) |
F725Y |
probably damaging |
Het |
| Epha6 |
T |
A |
16: 59,596,091 (GRCm39) |
I867F |
probably null |
Het |
| Erbin |
T |
C |
13: 103,979,959 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,253,560 (GRCm39) |
E468G |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,390,401 (GRCm39) |
R330W |
probably damaging |
Het |
| Fmo3 |
C |
T |
1: 162,786,142 (GRCm39) |
V283M |
possibly damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,510,481 (GRCm39) |
K24N |
possibly damaging |
Het |
| Gigyf1 |
C |
T |
5: 137,520,770 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
T |
A |
6: 131,158,362 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
G |
T |
3: 88,799,906 (GRCm39) |
K850N |
probably damaging |
Het |
| Igf2bp3 |
C |
T |
6: 49,085,980 (GRCm39) |
R233H |
probably damaging |
Het |
| Iqcf4 |
G |
A |
9: 106,445,893 (GRCm39) |
R85C |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,033,243 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lmod2 |
T |
A |
6: 24,603,376 (GRCm39) |
V117E |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,028,594 (GRCm39) |
|
probably null |
Het |
| Mcm3 |
G |
A |
1: 20,876,103 (GRCm39) |
R664C |
probably damaging |
Het |
| Mex3d |
A |
G |
10: 80,222,770 (GRCm39) |
M162T |
probably benign |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,771 (GRCm39) |
I260T |
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,105,679 (GRCm39) |
A1637D |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,638,189 (GRCm39) |
D441E |
probably damaging |
Het |
| Nek5 |
A |
T |
8: 22,599,928 (GRCm39) |
C194S |
probably damaging |
Het |
| Nos1ap |
T |
C |
1: 170,146,447 (GRCm39) |
D369G |
possibly damaging |
Het |
| Ntrk1 |
G |
T |
3: 87,687,391 (GRCm39) |
T681K |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,383 (GRCm39) |
W106R |
probably damaging |
Het |
| Or4f14 |
A |
G |
2: 111,742,526 (GRCm39) |
F250L |
possibly damaging |
Het |
| Otogl |
C |
T |
10: 107,735,322 (GRCm39) |
W154* |
probably null |
Het |
| Pcdh20 |
T |
C |
14: 88,706,620 (GRCm39) |
T227A |
possibly damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,324 (GRCm39) |
S705P |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,713 (GRCm39) |
H335R |
possibly damaging |
Het |
| Pkn2 |
T |
C |
3: 142,499,615 (GRCm39) |
Q954R |
probably damaging |
Het |
| Pramel23 |
C |
A |
4: 143,424,840 (GRCm39) |
C201F |
probably benign |
Het |
| Prkcq |
G |
A |
2: 11,237,442 (GRCm39) |
V74M |
probably damaging |
Het |
| Prkrip1 |
A |
T |
5: 136,218,489 (GRCm39) |
|
probably null |
Het |
| Pttg1ip2 |
A |
T |
5: 5,528,943 (GRCm39) |
I24N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,284,904 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
A |
T |
9: 107,644,763 (GRCm39) |
Y11* |
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,690,805 (GRCm39) |
V1082L |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,877,178 (GRCm39) |
E831G |
probably benign |
Het |
| Sel1l3 |
C |
A |
5: 53,327,789 (GRCm39) |
E497* |
probably null |
Het |
| Serpina6 |
A |
T |
12: 103,620,182 (GRCm39) |
I189N |
probably damaging |
Het |
| Serpinb11 |
A |
T |
1: 107,304,532 (GRCm39) |
T166S |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,839,270 (GRCm39) |
L188S |
probably benign |
Het |
| Slc25a45 |
C |
T |
19: 5,934,958 (GRCm39) |
A269V |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,469,082 (GRCm39) |
T114A |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,200,261 (GRCm39) |
V2766L |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,247,275 (GRCm39) |
I445F |
possibly damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,051 (GRCm39) |
Y200* |
probably null |
Het |
| Strada |
C |
A |
11: 106,055,010 (GRCm39) |
R384L |
probably damaging |
Het |
| Tctn2 |
G |
A |
5: 124,757,094 (GRCm39) |
|
noncoding transcript |
Het |
| Tgfbr3l |
G |
T |
8: 4,299,282 (GRCm39) |
R461L |
probably benign |
Het |
| Tmem65 |
A |
G |
15: 58,661,998 (GRCm39) |
|
probably benign |
Het |
| Tpst1 |
G |
T |
5: 130,143,343 (GRCm39) |
V294F |
possibly damaging |
Het |
| Trim23 |
A |
G |
13: 104,335,126 (GRCm39) |
Y384C |
probably damaging |
Het |
| Ube3b |
C |
G |
5: 114,542,678 (GRCm39) |
L512V |
possibly damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,183,916 (GRCm39) |
V92E |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,050,067 (GRCm39) |
C561S |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,145,635 (GRCm39) |
D104G |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,992,364 (GRCm39) |
L73* |
probably null |
Het |
| Wnt9a |
G |
A |
11: 59,221,728 (GRCm39) |
A209T |
probably benign |
Het |
| Zcchc17 |
A |
C |
4: 130,223,388 (GRCm39) |
C133G |
probably damaging |
Het |
| Zdhhc18 |
T |
A |
4: 133,335,987 (GRCm39) |
M375L |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
| Zfp202 |
T |
A |
9: 40,121,762 (GRCm39) |
D286E |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,158 (GRCm39) |
L2021P |
probably benign |
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 |
|
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 |
|
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'- AAGGAATGTCTTCCTTTCCACCAGC -3'
(R):5'- TGAGTAGCATCTATCTGGCCTCCTG -3'
Sequencing Primer
(F):5'- TCCACCAGCCTCTTTTTCTATG -3'
(R):5'- CTCCTGAAGGTTGTACCAGAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation