Incidental Mutation 'R7487:Astn1'
| ID |
615884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| MMRRC Submission |
045561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
158189843-158519351 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1427 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 158438352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046110]
[ENSMUST00000170718]
[ENSMUST00000193042]
[ENSMUST00000194369]
[ENSMUST00000195311]
|
| AlphaFold |
Q61137 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046110
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
| 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: ENSMUST00000170718
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
| 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 |
probably null
Transcript: ENSMUST00000193042
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
| 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 null
Transcript: ENSMUST00000195311
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (89/89) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,629 (GRCm39) |
D606V |
probably damaging |
Het |
| 1700009N14Rik |
T |
A |
4: 39,450,929 (GRCm39) |
V45E |
probably damaging |
Het |
| 2510009E07Rik |
C |
T |
16: 21,472,479 (GRCm39) |
V74M |
probably damaging |
Het |
| Abca2 |
C |
T |
2: 25,327,915 (GRCm39) |
T739M |
probably benign |
Het |
| Abra |
T |
C |
15: 41,732,949 (GRCm39) |
E39G |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,191 (GRCm39) |
C485S |
probably damaging |
Het |
| Add2 |
G |
T |
6: 86,070,432 (GRCm39) |
V175F |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,256,893 (GRCm39) |
K655N |
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,088,107 (GRCm39) |
V317A |
probably benign |
Het |
| Atm |
A |
T |
9: 53,435,654 (GRCm39) |
Y219N |
probably benign |
Het |
| Cep128 |
C |
T |
12: 90,966,404 (GRCm39) |
A1068T |
probably benign |
Het |
| Cep20 |
T |
C |
16: 14,128,968 (GRCm39) |
D85G |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,085,097 (GRCm39) |
Q250R |
probably benign |
Het |
| Cst7 |
A |
G |
2: 150,419,624 (GRCm39) |
T97A |
probably benign |
Het |
| Ctps1 |
G |
A |
4: 120,415,997 (GRCm39) |
L209F |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,288,793 (GRCm39) |
F230I |
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,793,510 (GRCm39) |
N336D |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,263,613 (GRCm39) |
S3294P |
probably damaging |
Het |
| Dhx36 |
G |
T |
3: 62,391,623 (GRCm39) |
N574K |
possibly damaging |
Het |
| Dock10 |
G |
T |
1: 80,562,765 (GRCm39) |
Q533K |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,132,041 (GRCm39) |
S1589P |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,681,821 (GRCm39) |
Y295F |
probably benign |
Het |
| Esrrg |
T |
A |
1: 187,878,620 (GRCm39) |
Y234N |
probably benign |
Het |
| Fadd |
A |
C |
7: 144,134,462 (GRCm39) |
V141G |
probably damaging |
Het |
| Fam114a2 |
C |
T |
11: 57,404,515 (GRCm39) |
G83D |
probably damaging |
Het |
| Fam170b |
T |
A |
14: 32,557,776 (GRCm39) |
C204S |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,840,017 (GRCm39) |
I2076F |
possibly damaging |
Het |
| Fdxacb1 |
G |
A |
9: 50,681,519 (GRCm39) |
V147I |
possibly damaging |
Het |
| Frem2 |
C |
A |
3: 53,561,970 (GRCm39) |
V846F |
probably benign |
Het |
| Fry |
G |
A |
5: 150,338,039 (GRCm39) |
S1449N |
possibly damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,685,672 (GRCm39) |
F98L |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,744,700 (GRCm39) |
Y658C |
probably damaging |
Het |
| Igkv3-9 |
T |
A |
6: 70,565,506 (GRCm39) |
L35Q |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,778,739 (GRCm39) |
Y101C |
probably damaging |
Het |
| Kcnj11 |
G |
T |
7: 45,748,265 (GRCm39) |
R353S |
probably benign |
Het |
| Kyat3 |
C |
T |
3: 142,431,955 (GRCm39) |
Q228* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,552,294 (GRCm39) |
D415E |
probably benign |
Het |
| Lcn3 |
G |
A |
2: 25,656,174 (GRCm39) |
|
probably null |
Het |
| Lin7b |
T |
C |
7: 45,019,364 (GRCm39) |
E68G |
possibly damaging |
Het |
| Lmbr1 |
T |
A |
5: 29,459,262 (GRCm39) |
K379M |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,389,045 (GRCm39) |
T2127P |
unknown |
Het |
| Map4 |
A |
G |
9: 109,856,783 (GRCm39) |
D151G |
probably damaging |
Het |
| Marchf1 |
A |
T |
8: 66,908,726 (GRCm39) |
T149S |
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,569,147 (GRCm39) |
F809I |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,496,095 (GRCm39) |
P6699S |
possibly damaging |
Het |
| Mxi1 |
A |
T |
19: 53,360,088 (GRCm39) |
D270V |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,190,953 (GRCm39) |
C907* |
probably null |
Het |
| Myo18b |
T |
C |
5: 112,982,299 (GRCm39) |
R1145G |
possibly damaging |
Het |
| Nkx2-6 |
A |
C |
14: 69,409,389 (GRCm39) |
N47H |
probably benign |
Het |
| Nol7 |
G |
A |
13: 43,552,076 (GRCm39) |
A66T |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,900,461 (GRCm39) |
N626S |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,266 (GRCm39) |
Y77C |
unknown |
Het |
| Or12d17 |
G |
T |
17: 37,777,457 (GRCm39) |
R120L |
probably damaging |
Het |
| Or12k5 |
A |
C |
2: 36,894,786 (GRCm39) |
V280G |
probably damaging |
Het |
| Or8c14-ps1 |
A |
G |
9: 38,101,356 (GRCm39) |
S112G |
probably damaging |
Het |
| Or8j3b |
A |
T |
2: 86,205,475 (GRCm39) |
Y94N |
probably damaging |
Het |
| Or9s23 |
G |
A |
1: 92,501,517 (GRCm39) |
G208D |
possibly damaging |
Het |
| Otop3 |
A |
G |
11: 115,235,826 (GRCm39) |
D486G |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,162,731 (GRCm39) |
K178R |
probably benign |
Het |
| Pcsk1 |
G |
A |
13: 75,259,002 (GRCm39) |
G259S |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,383,031 (GRCm39) |
D338G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 80,999,806 (GRCm39) |
D82E |
probably benign |
Het |
| Plekha5 |
C |
A |
6: 140,516,059 (GRCm39) |
Q771K |
probably benign |
Het |
| Plekhh3 |
C |
A |
11: 101,056,405 (GRCm39) |
A397S |
possibly damaging |
Het |
| Prg4 |
G |
T |
1: 150,331,656 (GRCm39) |
T339N |
unknown |
Het |
| Prss22 |
A |
T |
17: 24,216,971 (GRCm39) |
I3N |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rspo2 |
T |
C |
15: 42,941,510 (GRCm39) |
T138A |
probably benign |
Het |
| Rtcb |
C |
T |
10: 85,789,333 (GRCm39) |
G70S |
probably benign |
Het |
| Selenov |
A |
T |
7: 27,989,803 (GRCm39) |
S234T |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,992,292 (GRCm39) |
T429A |
probably damaging |
Het |
| Slc4a3 |
G |
T |
1: 75,530,021 (GRCm39) |
R622L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,478,448 (GRCm39) |
I1015T |
probably damaging |
Het |
| Spata9 |
G |
T |
13: 76,115,959 (GRCm39) |
V3F |
possibly damaging |
Het |
| Tlr4 |
T |
C |
4: 66,842,659 (GRCm39) |
I105T |
probably benign |
Het |
| Trav6d-4 |
A |
T |
14: 52,991,096 (GRCm39) |
Y47F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,657,377 (GRCm39) |
I12450N |
unknown |
Het |
| Umad1 |
G |
T |
6: 8,270,560 (GRCm39) |
A21S |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,144,362 (GRCm39) |
R229H |
probably benign |
Het |
| Vmn1r216 |
A |
T |
13: 23,284,030 (GRCm39) |
M238L |
probably damaging |
Het |
| Vps16 |
T |
A |
2: 130,280,977 (GRCm39) |
C255* |
probably null |
Het |
| Wdr89 |
A |
G |
12: 75,679,388 (GRCm39) |
F289L |
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,805,525 (GRCm39) |
H648L |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,581,154 (GRCm39) |
K64E |
possibly damaging |
Het |
| Zfp990 |
G |
A |
4: 145,264,157 (GRCm39) |
C385Y |
probably damaging |
Het |
| Zswim3 |
G |
T |
2: 164,662,135 (GRCm39) |
S205I |
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 |
|
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 |
|
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'- CAATAGAAGGAAGATAACTGACCATT -3'
(R):5'- TATAAGAATTGGGAATGATGAACAGC -3'
Sequencing Primer
(F):5'- AGGACCCAGATGTAGCTATCTCTTG -3'
(R):5'- AGCAGCAGAACTCTGTATGTCTC -3'
|
| Posted On |
2020-01-08 |
Incidental Mutation