Incidental Mutation 'R1474:Astn1'
| ID |
163858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
039527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1474 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 158329923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 259
(N259K)
|
| 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: N259K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: N259K
| 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: N259K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: N259K
| 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: N259K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: N259K
| 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: N259K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: N259K
| 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: N259K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: N259K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
95% (104/110) |
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
A |
11: 109,960,635 (GRCm39) |
A628S |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,036,405 (GRCm39) |
N568S |
probably damaging |
Het |
| Ada |
C |
T |
2: 163,574,814 (GRCm39) |
A108T |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,069 (GRCm39) |
D147E |
possibly damaging |
Het |
| Ampd1 |
A |
T |
3: 103,006,154 (GRCm39) |
T655S |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,327,139 (GRCm39) |
F680S |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,991,869 (GRCm39) |
T783I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,886,673 (GRCm39) |
V667A |
probably damaging |
Het |
| Brat1 |
G |
A |
5: 140,698,382 (GRCm39) |
V185I |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,732,620 (GRCm39) |
Y318C |
probably damaging |
Het |
| Caskin2 |
G |
A |
11: 115,694,522 (GRCm39) |
P360S |
probably benign |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,642 (GRCm39) |
T21A |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,555,754 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,952,355 (GRCm39) |
|
probably benign |
Het |
| Cdk6 |
G |
A |
5: 3,523,217 (GRCm39) |
M212I |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,159 (GRCm39) |
F302Y |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,301,055 (GRCm39) |
E2746G |
possibly damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,989,703 (GRCm39) |
V115I |
probably benign |
Het |
| Clip3 |
C |
A |
7: 29,998,307 (GRCm39) |
A251E |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,623,180 (GRCm39) |
L350P |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,370,103 (GRCm39) |
R907* |
probably null |
Het |
| Cntnap5b |
T |
C |
1: 99,999,814 (GRCm39) |
Y191H |
probably benign |
Het |
| Col4a4 |
A |
T |
1: 82,458,207 (GRCm39) |
C1122* |
probably null |
Het |
| Coq5 |
A |
G |
5: 115,433,842 (GRCm39) |
|
probably benign |
Het |
| Cpxcr1 |
A |
G |
X: 115,387,136 (GRCm39) |
K16E |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,298,304 (GRCm39) |
I616T |
probably benign |
Het |
| Dhrs3 |
A |
T |
4: 144,646,057 (GRCm39) |
T122S |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,210,596 (GRCm39) |
I502V |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,596,519 (GRCm39) |
G788W |
probably damaging |
Het |
| Dusp10 |
C |
T |
1: 183,769,645 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
C |
A |
19: 5,769,112 (GRCm39) |
L730F |
possibly damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,808,785 (GRCm39) |
H75Y |
probably damaging |
Het |
| Evi2a |
T |
C |
11: 79,418,398 (GRCm39) |
T71A |
probably benign |
Het |
| Fam184a |
A |
T |
10: 53,511,461 (GRCm39) |
S1073T |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,499,582 (GRCm39) |
Y591C |
probably damaging |
Het |
| Fam83a |
C |
T |
15: 57,873,272 (GRCm39) |
T367M |
probably benign |
Het |
| Fam83g |
A |
G |
11: 61,593,819 (GRCm39) |
D451G |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,203,185 (GRCm39) |
F1213L |
possibly damaging |
Het |
| Fcgbp |
G |
A |
7: 27,791,273 (GRCm39) |
V845I |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,251,933 (GRCm39) |
M433L |
probably benign |
Het |
| Gm6632 |
T |
G |
5: 59,211,679 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl3 |
A |
T |
14: 30,738,418 (GRCm39) |
|
probably benign |
Het |
| Hhipl1 |
C |
T |
12: 108,277,996 (GRCm39) |
T108I |
probably damaging |
Het |
| Hs2st1 |
A |
T |
3: 144,141,256 (GRCm39) |
F271I |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,074,462 (GRCm39) |
S303G |
probably damaging |
Het |
| Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,292,305 (GRCm39) |
K49E |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,162,235 (GRCm39) |
V482E |
probably damaging |
Het |
| Ldlrad2 |
G |
A |
4: 137,299,525 (GRCm39) |
P100S |
probably benign |
Het |
| Lrba |
G |
T |
3: 86,687,573 (GRCm39) |
|
probably benign |
Het |
| Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,522,988 (GRCm39) |
M215K |
probably benign |
Het |
| Mterf1b |
T |
G |
5: 4,247,163 (GRCm39) |
L268R |
probably damaging |
Het |
| Mvk |
T |
C |
5: 114,598,157 (GRCm39) |
F365L |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
| Myo1f |
G |
T |
17: 33,813,001 (GRCm39) |
K602N |
possibly damaging |
Het |
| Nr2c2ap |
A |
T |
8: 70,585,765 (GRCm39) |
M108L |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Ogfrl1 |
A |
G |
1: 23,414,890 (GRCm39) |
F206L |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,188 (GRCm39) |
I148N |
probably damaging |
Het |
| Or14c46 |
G |
T |
7: 85,918,270 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or4d10b |
T |
A |
19: 12,036,844 (GRCm39) |
T91S |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,701,288 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,824 (GRCm39) |
M243L |
probably benign |
Het |
| Or9m2 |
A |
G |
2: 87,821,334 (GRCm39) |
N293S |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,536,876 (GRCm39) |
|
probably null |
Het |
| Pah |
G |
T |
10: 87,414,175 (GRCm39) |
K341N |
probably damaging |
Het |
| Pfdn5 |
T |
A |
15: 102,236,946 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,216,202 (GRCm39) |
C960R |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,488 (GRCm39) |
V306A |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,792,236 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
C |
3: 95,896,878 (GRCm39) |
E197G |
probably damaging |
Het |
| Polr2i |
A |
G |
7: 29,932,227 (GRCm39) |
N34S |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,848,614 (GRCm39) |
D22E |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,731,128 (GRCm39) |
A687S |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,788,265 (GRCm39) |
K606R |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,208,868 (GRCm39) |
V703A |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,577,362 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,576 (GRCm39) |
P2002L |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,740,307 (GRCm39) |
C555S |
probably damaging |
Het |
| Sftpd |
C |
A |
14: 40,894,384 (GRCm39) |
G345V |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,774,319 (GRCm39) |
M462K |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,264,990 (GRCm39) |
E676G |
probably damaging |
Het |
| Sox6 |
T |
A |
7: 115,300,926 (GRCm39) |
|
probably benign |
Het |
| Spdye4b |
G |
A |
5: 143,181,472 (GRCm39) |
R109Q |
probably damaging |
Het |
| Spef1l |
C |
A |
7: 139,556,555 (GRCm39) |
R144L |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,706 (GRCm39) |
I63L |
probably damaging |
Het |
| St3gal3 |
A |
G |
4: 117,871,983 (GRCm39) |
L73P |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,871,818 (GRCm39) |
L1247P |
probably benign |
Het |
| Tat |
A |
G |
8: 110,718,195 (GRCm39) |
R27G |
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,881,804 (GRCm39) |
R295H |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,445,467 (GRCm39) |
V596A |
probably damaging |
Het |
| Tgfb3 |
C |
T |
12: 86,116,120 (GRCm39) |
|
probably null |
Het |
| Tmed5 |
A |
T |
5: 108,280,248 (GRCm39) |
S15T |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,303,286 (GRCm39) |
S231T |
probably benign |
Het |
| Trim30d |
G |
A |
7: 104,121,701 (GRCm39) |
S198L |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,773,859 (GRCm39) |
M412T |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,612,589 (GRCm39) |
D15417E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,375,251 (GRCm39) |
I157T |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,156,890 (GRCm39) |
D2305G |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,546,165 (GRCm39) |
K179E |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,359,436 (GRCm39) |
F230S |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,355,411 (GRCm39) |
K3391E |
probably benign |
Het |
| Xpo7 |
T |
A |
14: 70,936,473 (GRCm39) |
H170L |
probably benign |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,924,404 (GRCm39) |
W393R |
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 |
|
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 |
|
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'- TGCCTGGTGATGATCCTGTACACTC -3'
(R):5'- TTACGCTTTGGCTCCCTGAGCAAG -3'
Sequencing Primer
(F):5'- ATGAGATTCACTACATCCCATCTGTG -3'
(R):5'- TCCCTGAGCAAGGACTAAACAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation