Incidental Mutation 'IGL02215:Astn2'
| ID |
284852 |
| 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: 0.105)
|
| Stock # |
IGL02215
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
65299040-66322774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66184471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 209
(I209F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068214]
[ENSMUST00000084496]
|
| AlphaFold |
Q80Z10 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000068214
AA Change: I209F
|
| SMART Domains |
Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: I209F
| 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 |
unknown
Transcript: ENSMUST00000084496
AA Change: I209F
|
| SMART Domains |
Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: I209F
| 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 |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
| Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
| Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,366,031 (GRCm39) |
N628D |
possibly damaging |
Het |
| Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
| C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
| Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
| Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
| Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
| Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
| H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
| Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
| Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
| Itgbl1 |
A |
C |
14: 124,209,553 (GRCm39) |
I311L |
probably benign |
Het |
| Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
| Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
| Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,628,822 (GRCm39) |
D731E |
possibly damaging |
Het |
| Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,260,305 (GRCm39) |
S632P |
possibly damaging |
Het |
| Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,929,478 (GRCm39) |
I1132F |
probably damaging |
Het |
| Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
| Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
| Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
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 |
|
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 |
|
IGL02792:Astn2
|
APN |
4 |
65,563,058 (GRCm39) |
missense |
probably benign |
0.32 |
|
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 |
2015-04-16 |
Incidental Mutation