Incidental Mutation 'IGL01705:Astn1'
| ID |
104564 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Astn1
|
| Ensembl Gene |
ENSMUSG00000026587 |
| Gene Name |
astrotactin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL01705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
158362273-158691781 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 158504313 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 326
(S326C)
|
| 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: S326C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039711
Gene: ENSMUSG00000026587
AA Change: S326C
| 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: S326C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127428
Gene: ENSMUSG00000026587
AA Change: S326C
| 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: S326C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142322
Gene: ENSMUSG00000026587
AA Change: S326C
| 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: S326C
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142017
Gene: ENSMUSG00000026587
AA Change: S326C
| 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: S326C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141518
Gene: ENSMUSG00000026587
AA Change: S326C
| 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 |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,032,966 |
T1077A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,746,767 |
V2504A |
possibly damaging |
Het |
| Anks3 |
A |
T |
16: 4,947,723 |
W172R |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,249,368 |
N633K |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,983,539 |
K900E |
possibly damaging |
Het |
| Cd5 |
A |
T |
19: 10,726,295 |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 24,857,941 |
N284K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,545,731 |
A38V |
probably damaging |
Het |
| Eny2 |
C |
A |
15: 44,432,435 |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 88,130,046 |
Q930R |
possibly damaging |
Het |
| Igkv4-73 |
A |
T |
6: 69,197,725 |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,189,274 |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 74,947,971 |
|
probably null |
Het |
| Mettl7b |
T |
A |
10: 128,958,862 |
I198F |
probably benign |
Het |
| Neto2 |
T |
C |
8: 85,641,003 |
K371E |
probably damaging |
Het |
| Olfr965 |
T |
C |
9: 39,719,581 |
M118T |
possibly damaging |
Het |
| Paxbp1 |
A |
G |
16: 91,016,988 |
F834L |
probably benign |
Het |
| Paxip1 |
A |
T |
5: 27,748,859 |
S946R |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,677,865 |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 117,581,662 |
L331P |
probably damaging |
Het |
| Reep1 |
A |
G |
6: 71,773,288 |
T95A |
probably damaging |
Het |
| Rfx2 |
A |
G |
17: 56,785,303 |
Y332H |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,381,398 |
D1288E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,022,730 |
M582V |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,931 |
|
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,436,352 |
L192R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 64,954,130 |
K478R |
probably benign |
Het |
| Tmem115 |
G |
T |
9: 107,535,204 |
L242F |
probably benign |
Het |
| Tnfaip1 |
T |
C |
11: 78,525,468 |
D263G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 104,142,677 |
I69F |
probably damaging |
Het |
| Vps52 |
T |
C |
17: 33,966,068 |
L712P |
probably damaging |
Het |
|
| Other mutations in Astn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Astn1
|
APN |
1 |
158600319 |
missense |
possibly damaging |
0.71 |
|
IGL01790:Astn1
|
APN |
1 |
158580327 |
missense |
possibly damaging |
0.70 |
|
IGL01962:Astn1
|
APN |
1 |
158668631 |
missense |
probably damaging |
1.00 |
|
IGL02000:Astn1
|
APN |
1 |
158674614 |
missense |
probably damaging |
1.00 |
|
IGL02119:Astn1
|
APN |
1 |
158511154 |
intron |
probably benign |
|
|
IGL02168:Astn1
|
APN |
1 |
158609341 |
missense |
possibly damaging |
0.93 |
|
IGL02239:Astn1
|
APN |
1 |
158664130 |
critical splice donor site |
probably null |
|
|
IGL02271:Astn1
|
APN |
1 |
158510950 |
splice site |
probably benign |
|
|
IGL02307:Astn1
|
APN |
1 |
158674614 |
missense |
probably damaging |
1.00 |
|
IGL02504:Astn1
|
APN |
1 |
158502408 |
missense |
probably damaging |
1.00 |
|
IGL02552:Astn1
|
APN |
1 |
158505395 |
missense |
possibly damaging |
0.90 |
|
IGL02903:Astn1
|
APN |
1 |
158688550 |
missense |
probably damaging |
0.99 |
|
IGL03003:Astn1
|
APN |
1 |
158612395 |
missense |
probably benign |
0.00 |
|
IGL03007:Astn1
|
APN |
1 |
158668623 |
splice site |
probably benign |
|
|
IGL03354:Astn1
|
APN |
1 |
158688604 |
missense |
probably damaging |
1.00 |
|
PIT4366001:Astn1
|
UTSW |
1 |
158597209 |
missense |
probably benign |
0.20 |
|
PIT4366001:Astn1
|
UTSW |
1 |
158597211 |
missense |
probably benign |
0.23 |
|
R0024:Astn1
|
UTSW |
1 |
158684215 |
missense |
probably damaging |
0.99 |
|
R0050:Astn1
|
UTSW |
1 |
158579724 |
splice site |
probably benign |
|
|
R0099:Astn1
|
UTSW |
1 |
158502151 |
missense |
probably damaging |
1.00 |
|
R0109:Astn1
|
UTSW |
1 |
158664104 |
missense |
possibly damaging |
0.79 |
|
R0109:Astn1
|
UTSW |
1 |
158664104 |
missense |
possibly damaging |
0.79 |
|
R0365:Astn1
|
UTSW |
1 |
158688548 |
missense |
probably damaging |
1.00 |
|
R0416:Astn1
|
UTSW |
1 |
158509891 |
missense |
probably damaging |
1.00 |
|
R0531:Astn1
|
UTSW |
1 |
158600389 |
missense |
probably damaging |
0.99 |
|
R0735:Astn1
|
UTSW |
1 |
158472389 |
missense |
possibly damaging |
0.53 |
|
R0763:Astn1
|
UTSW |
1 |
158509890 |
missense |
possibly damaging |
0.93 |
|
R0899:Astn1
|
UTSW |
1 |
158511109 |
nonsense |
probably null |
|
|
R1027:Astn1
|
UTSW |
1 |
158580279 |
missense |
probably damaging |
1.00 |
|
R1160:Astn1
|
UTSW |
1 |
158600365 |
missense |
possibly damaging |
0.83 |
|
R1474:Astn1
|
UTSW |
1 |
158502353 |
missense |
probably damaging |
1.00 |
|
R1517:Astn1
|
UTSW |
1 |
158579576 |
splice site |
probably benign |
|
|
R1701:Astn1
|
UTSW |
1 |
158504307 |
missense |
possibly damaging |
0.54 |
|
R1764:Astn1
|
UTSW |
1 |
158504251 |
missense |
probably benign |
0.35 |
|
R1860:Astn1
|
UTSW |
1 |
158601945 |
missense |
probably damaging |
1.00 |
|
R1889:Astn1
|
UTSW |
1 |
158505316 |
splice site |
probably null |
|
|
R1919:Astn1
|
UTSW |
1 |
158509971 |
missense |
probably damaging |
1.00 |
|
R2001:Astn1
|
UTSW |
1 |
158520521 |
missense |
probably damaging |
1.00 |
|
R2007:Astn1
|
UTSW |
1 |
158609305 |
missense |
probably damaging |
0.97 |
|
R2038:Astn1
|
UTSW |
1 |
158657120 |
missense |
probably benign |
0.29 |
|
R2044:Astn1
|
UTSW |
1 |
158600502 |
missense |
possibly damaging |
0.53 |
|
R2084:Astn1
|
UTSW |
1 |
158472408 |
missense |
probably damaging |
0.99 |
|
R2094:Astn1
|
UTSW |
1 |
158667609 |
missense |
probably benign |
0.02 |
|
R2163:Astn1
|
UTSW |
1 |
158502150 |
missense |
probably damaging |
0.99 |
|
R2211:Astn1
|
UTSW |
1 |
158657306 |
missense |
probably benign |
0.40 |
|
R2268:Astn1
|
UTSW |
1 |
158502099 |
missense |
probably damaging |
1.00 |
|
R2269:Astn1
|
UTSW |
1 |
158502099 |
missense |
probably damaging |
1.00 |
|
R2425:Astn1
|
UTSW |
1 |
158579666 |
missense |
probably damaging |
0.99 |
|
R2428:Astn1
|
UTSW |
1 |
158612346 |
missense |
possibly damaging |
0.66 |
|
R2980:Astn1
|
UTSW |
1 |
158572951 |
critical splice acceptor site |
probably null |
|
|
R3713:Astn1
|
UTSW |
1 |
158667532 |
missense |
possibly damaging |
0.83 |
|
R3745:Astn1
|
UTSW |
1 |
158502060 |
missense |
probably damaging |
1.00 |
|
R3926:Astn1
|
UTSW |
1 |
158579657 |
missense |
possibly damaging |
0.95 |
|
R4345:Astn1
|
UTSW |
1 |
158502032 |
splice site |
probably null |
|
|
R4625:Astn1
|
UTSW |
1 |
158580294 |
missense |
probably damaging |
1.00 |
|
R4627:Astn1
|
UTSW |
1 |
158502251 |
missense |
possibly damaging |
0.55 |
|
R4970:Astn1
|
UTSW |
1 |
158657193 |
missense |
possibly damaging |
0.88 |
|
R5112:Astn1
|
UTSW |
1 |
158657193 |
missense |
possibly damaging |
0.88 |
|
R5257:Astn1
|
UTSW |
1 |
158612532 |
missense |
probably damaging |
1.00 |
|
R5292:Astn1
|
UTSW |
1 |
158580363 |
critical splice donor site |
probably null |
|
|
R5889:Astn1
|
UTSW |
1 |
158600380 |
missense |
possibly damaging |
0.93 |
|
R5909:Astn1
|
UTSW |
1 |
158601937 |
missense |
probably damaging |
1.00 |
|
R6020:Astn1
|
UTSW |
1 |
158509993 |
missense |
probably damaging |
1.00 |
|
R6349:Astn1
|
UTSW |
1 |
158664121 |
nonsense |
probably null |
|
|
R6481:Astn1
|
UTSW |
1 |
158612462 |
missense |
probably benign |
0.29 |
|
R6736:Astn1
|
UTSW |
1 |
158511148 |
critical splice donor site |
probably null |
|
|
R6833:Astn1
|
UTSW |
1 |
158664122 |
missense |
probably benign |
0.40 |
|
R6834:Astn1
|
UTSW |
1 |
158664122 |
missense |
probably benign |
0.40 |
|
R6860:Astn1
|
UTSW |
1 |
158612472 |
missense |
probably damaging |
1.00 |
|
R6874:Astn1
|
UTSW |
1 |
158664074 |
nonsense |
probably null |
|
|
R7062:Astn1
|
UTSW |
1 |
158688511 |
critical splice acceptor site |
probably null |
|
|
R7133:Astn1
|
UTSW |
1 |
158572987 |
missense |
probably damaging |
1.00 |
|
R7355:Astn1
|
UTSW |
1 |
158664276 |
splice site |
probably null |
|
|
R7402:Astn1
|
UTSW |
1 |
158552855 |
intron |
probably benign |
|
|
R7412:Astn1
|
UTSW |
1 |
158502349 |
missense |
probably damaging |
0.98 |
|
R7487:Astn1
|
UTSW |
1 |
158610782 |
splice site |
probably null |
|
|
R7537:Astn1
|
UTSW |
1 |
158505386 |
missense |
possibly damaging |
0.84 |
|
R7537:Astn1
|
UTSW |
1 |
158667638 |
splice site |
probably null |
|
|
R7635:Astn1
|
UTSW |
1 |
158667535 |
nonsense |
probably null |
|
|
R7890:Astn1
|
UTSW |
1 |
158580333 |
missense |
probably damaging |
1.00 |
|
R7894:Astn1
|
UTSW |
1 |
158601938 |
missense |
probably damaging |
0.98 |
|
R7904:Astn1
|
UTSW |
1 |
158597316 |
missense |
probably benign |
0.37 |
|
R8048:Astn1
|
UTSW |
1 |
158688638 |
missense |
probably benign |
0.00 |
|
R8061:Astn1
|
UTSW |
1 |
158504350 |
critical splice donor site |
probably null |
|
|
R8096:Astn1
|
UTSW |
1 |
158609320 |
missense |
probably damaging |
1.00 |
|
R8327:Astn1
|
UTSW |
1 |
158609280 |
missense |
probably damaging |
1.00 |
|
R8374:Astn1
|
UTSW |
1 |
158502233 |
missense |
probably damaging |
1.00 |
|
R8400:Astn1
|
UTSW |
1 |
158657100 |
missense |
probably benign |
0.09 |
|
R8983:Astn1
|
UTSW |
1 |
158664130 |
critical splice donor site |
probably null |
|
|
R9013:Astn1
|
UTSW |
1 |
158520500 |
missense |
probably damaging |
1.00 |
|
R9110:Astn1
|
UTSW |
1 |
158668757 |
missense |
probably benign |
0.01 |
|
R9156:Astn1
|
UTSW |
1 |
158510985 |
missense |
probably damaging |
0.99 |
|
R9355:Astn1
|
UTSW |
1 |
158684151 |
missense |
probably damaging |
1.00 |
|
R9683:Astn1
|
UTSW |
1 |
158664049 |
missense |
possibly damaging |
0.93 |
|
Z1088:Astn1
|
UTSW |
1 |
158472497 |
missense |
possibly damaging |
0.93 |
|
Z1088:Astn1
|
UTSW |
1 |
158597206 |
missense |
possibly damaging |
0.91 |
|
Z1088:Astn1
|
UTSW |
1 |
158684096 |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation