Incidental Mutation 'IGL02792:Astn2'
| ID |
359811 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Astn2
|
| Ensembl Gene |
ENSMUSG00000028373 |
| Gene Name |
astrotactin 2 |
| Synonyms |
1d8, Astnl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL02792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65563058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 908
(S908T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
| AlphaFold |
Q80Z10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068214
AA Change: S908T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: S908T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
EGF_like
|
526 |
563 |
2.92e1 |
SMART |
|
Blast:EGF_like
|
667 |
708 |
2e-18 |
BLAST |
|
EGF_like
|
715 |
764 |
4.03e1 |
SMART |
|
MACPF
|
864 |
1048 |
2.88e-55 |
SMART |
|
FN3
|
1079 |
1191 |
2.41e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084496
AA Change: S856T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: S856T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
127 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
385 |
N/A |
INTRINSIC |
|
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
|
EGF_like
|
474 |
511 |
2.92e1 |
SMART |
|
Blast:EGF_like
|
615 |
656 |
2e-18 |
BLAST |
|
EGF_like
|
663 |
712 |
4.03e1 |
SMART |
|
MACPF
|
812 |
996 |
2.88e-55 |
SMART |
|
FN3
|
1027 |
1139 |
2.41e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
A |
17: 48,401,107 (GRCm39) |
V131M |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,079,507 (GRCm39) |
C1216S |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,369,236 (GRCm39) |
K1018E |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,282,163 (GRCm39) |
|
probably null |
Het |
| Adgrb1 |
C |
A |
15: 74,419,471 (GRCm39) |
L771I |
probably damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,498 (GRCm39) |
K89I |
probably damaging |
Het |
| Adora2b |
A |
T |
11: 62,156,309 (GRCm39) |
I253F |
possibly damaging |
Het |
| Akna |
G |
A |
4: 63,295,943 (GRCm39) |
P975S |
possibly damaging |
Het |
| Alg9 |
T |
C |
9: 50,754,048 (GRCm39) |
L576P |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,761,218 (GRCm39) |
E1023G |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,054,866 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,582,573 (GRCm39) |
Y281C |
probably damaging |
Het |
| Cdc42bpb |
G |
T |
12: 111,265,995 (GRCm39) |
F1312L |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,966,337 (GRCm39) |
F330C |
probably damaging |
Het |
| Col27a1 |
C |
T |
4: 63,233,820 (GRCm39) |
P689S |
unknown |
Het |
| Col4a3 |
A |
T |
1: 82,696,524 (GRCm39) |
K1643N |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,598,460 (GRCm39) |
V1875D |
possibly damaging |
Het |
| Eftud2 |
A |
G |
11: 102,761,082 (GRCm39) |
|
probably benign |
Het |
| Ergic3 |
C |
A |
2: 155,859,770 (GRCm39) |
T357K |
probably damaging |
Het |
| Glra1 |
A |
T |
11: 55,427,226 (GRCm39) |
D36E |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 35,001,018 (GRCm39) |
Y330H |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,236,602 (GRCm39) |
S382P |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,428,316 (GRCm39) |
E1224K |
probably damaging |
Het |
| Klk13 |
A |
G |
7: 43,370,838 (GRCm39) |
E29G |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,165,643 (GRCm39) |
D124G |
probably benign |
Het |
| Lrmda |
T |
C |
14: 22,069,978 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
G |
A |
17: 75,589,989 (GRCm39) |
V539M |
probably damaging |
Het |
| Ngfr |
A |
C |
11: 95,462,687 (GRCm39) |
L317R |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,502,348 (GRCm39) |
H151Q |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,494,182 (GRCm39) |
L633P |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,686,535 (GRCm39) |
V158M |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,729,456 (GRCm39) |
T140A |
probably damaging |
Het |
| Or2d36 |
T |
C |
7: 106,747,425 (GRCm39) |
F301L |
probably benign |
Het |
| Or7g16 |
C |
T |
9: 18,727,254 (GRCm39) |
S112N |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,850 (GRCm39) |
Y517C |
probably damaging |
Het |
| Poc1a |
A |
T |
9: 106,172,393 (GRCm39) |
I207F |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,636,938 (GRCm39) |
S338P |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,959,722 (GRCm39) |
V73A |
probably damaging |
Het |
| Relb |
A |
T |
7: 19,347,789 (GRCm39) |
L281Q |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,383,018 (GRCm39) |
L382* |
probably null |
Het |
| Setd1a |
C |
T |
7: 127,390,522 (GRCm39) |
S523F |
unknown |
Het |
| Slamf8 |
A |
G |
1: 172,415,697 (GRCm39) |
I47T |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,206,193 (GRCm39) |
A88T |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,140,884 (GRCm39) |
M532I |
probably benign |
Het |
| Tcp11l1 |
T |
A |
2: 104,512,165 (GRCm39) |
Y489F |
probably benign |
Het |
| Tdrd6 |
T |
G |
17: 43,935,918 (GRCm39) |
D1710A |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,070,739 (GRCm39) |
I399N |
probably damaging |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,014 (GRCm39) |
L76P |
probably damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,414,228 (GRCm39) |
M1V |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,817,262 (GRCm39) |
I1561V |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,027 (GRCm39) |
D181G |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,104 (GRCm39) |
F1101L |
probably damaging |
Het |
| Zfpm2 |
C |
A |
15: 40,966,409 (GRCm39) |
Q833K |
probably benign |
Het |
|
| Other mutations in Astn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Astn2
|
APN |
4 |
66,103,424 (GRCm39) |
missense |
unknown |
|
|
IGL01657:Astn2
|
APN |
4 |
65,570,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01747:Astn2
|
APN |
4 |
65,712,855 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02008:Astn2
|
APN |
4 |
65,977,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Astn2
|
APN |
4 |
66,184,471 (GRCm39) |
missense |
unknown |
|
|
IGL02484:Astn2
|
APN |
4 |
65,910,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL02494:Astn2
|
APN |
4 |
65,910,585 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03248:Astn2
|
APN |
4 |
65,664,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL03409:Astn2
|
APN |
4 |
65,353,423 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
B6584:Astn2
|
UTSW |
4 |
65,910,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Astn2
|
UTSW |
4 |
66,184,619 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0015:Astn2
|
UTSW |
4 |
66,184,619 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0092:Astn2
|
UTSW |
4 |
66,322,219 (GRCm39) |
missense |
unknown |
|
|
R0245:Astn2
|
UTSW |
4 |
65,712,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0528:Astn2
|
UTSW |
4 |
65,563,119 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Astn2
|
UTSW |
4 |
66,103,379 (GRCm39) |
missense |
unknown |
|
|
R0652:Astn2
|
UTSW |
4 |
65,712,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0880:Astn2
|
UTSW |
4 |
65,566,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0931:Astn2
|
UTSW |
4 |
65,566,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1353:Astn2
|
UTSW |
4 |
66,184,572 (GRCm39) |
missense |
unknown |
|
|
R1700:Astn2
|
UTSW |
4 |
65,664,591 (GRCm39) |
nonsense |
probably null |
|
|
R1934:Astn2
|
UTSW |
4 |
65,353,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2017:Astn2
|
UTSW |
4 |
65,459,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2101:Astn2
|
UTSW |
4 |
65,499,923 (GRCm39) |
nonsense |
probably null |
|
|
R2158:Astn2
|
UTSW |
4 |
66,322,491 (GRCm39) |
missense |
unknown |
|
|
R2907:Astn2
|
UTSW |
4 |
65,563,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2923:Astn2
|
UTSW |
4 |
65,832,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Astn2
|
UTSW |
4 |
65,910,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3033:Astn2
|
UTSW |
4 |
65,562,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Astn2
|
UTSW |
4 |
66,322,192 (GRCm39) |
missense |
unknown |
|
|
R4151:Astn2
|
UTSW |
4 |
65,647,557 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4230:Astn2
|
UTSW |
4 |
65,829,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4497:Astn2
|
UTSW |
4 |
66,037,300 (GRCm39) |
intron |
probably benign |
|
|
R4717:Astn2
|
UTSW |
4 |
65,562,991 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4844:Astn2
|
UTSW |
4 |
65,562,967 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4928:Astn2
|
UTSW |
4 |
65,647,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5374:Astn2
|
UTSW |
4 |
65,315,242 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5442:Astn2
|
UTSW |
4 |
65,500,023 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5694:Astn2
|
UTSW |
4 |
65,868,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Astn2
|
UTSW |
4 |
66,037,425 (GRCm39) |
intron |
probably benign |
|
|
R5763:Astn2
|
UTSW |
4 |
65,647,568 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6089:Astn2
|
UTSW |
4 |
65,712,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6990:Astn2
|
UTSW |
4 |
65,910,540 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7304:Astn2
|
UTSW |
4 |
66,103,612 (GRCm39) |
missense |
unknown |
|
|
R7325:Astn2
|
UTSW |
4 |
65,460,906 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7356:Astn2
|
UTSW |
4 |
66,103,503 (GRCm39) |
missense |
unknown |
|
|
R7414:Astn2
|
UTSW |
4 |
65,459,193 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7755:Astn2
|
UTSW |
4 |
65,712,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7887:Astn2
|
UTSW |
4 |
65,563,103 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8027:Astn2
|
UTSW |
4 |
65,459,208 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8046:Astn2
|
UTSW |
4 |
66,184,587 (GRCm39) |
nonsense |
probably null |
|
|
R8188:Astn2
|
UTSW |
4 |
65,977,418 (GRCm39) |
missense |
unknown |
|
|
R8271:Astn2
|
UTSW |
4 |
65,910,663 (GRCm39) |
missense |
unknown |
|
|
R8274:Astn2
|
UTSW |
4 |
65,570,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8505:Astn2
|
UTSW |
4 |
65,299,825 (GRCm39) |
missense |
unknown |
|
|
R8815:Astn2
|
UTSW |
4 |
65,830,834 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8989:Astn2
|
UTSW |
4 |
65,499,890 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9013:Astn2
|
UTSW |
4 |
65,910,584 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9127:Astn2
|
UTSW |
4 |
66,322,164 (GRCm39) |
missense |
unknown |
|
|
R9255:Astn2
|
UTSW |
4 |
65,563,085 (GRCm39) |
nonsense |
probably null |
|
|
R9297:Astn2
|
UTSW |
4 |
65,460,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9320:Astn2
|
UTSW |
4 |
66,322,386 (GRCm39) |
missense |
unknown |
|
|
R9349:Astn2
|
UTSW |
4 |
66,184,492 (GRCm39) |
missense |
unknown |
|
|
R9399:Astn2
|
UTSW |
4 |
65,664,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9572:Astn2
|
UTSW |
4 |
65,299,872 (GRCm39) |
missense |
unknown |
|
|
R9573:Astn2
|
UTSW |
4 |
65,566,591 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9674:Astn2
|
UTSW |
4 |
65,460,963 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9722:Astn2
|
UTSW |
4 |
65,831,978 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-12-18 |
Incidental Mutation