Incidental Mutation 'IGL02052:Cntn1'
ID |
185097 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cntn1
|
Ensembl Gene |
ENSMUSG00000055022 |
Gene Name |
contactin 1 |
Synonyms |
F3cam, usl, CNTN |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02052
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 92189584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 636
(I636L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133063
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
AlphaFold |
P12960 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000109
AA Change: I636L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000000109 Gene: ENSMUSG00000055022 AA Change: I636L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
IG
|
143 |
232 |
1.25e-4 |
SMART |
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
IG
|
511 |
603 |
3.51e-8 |
SMART |
FN3
|
606 |
692 |
6.69e-12 |
SMART |
FN3
|
709 |
795 |
1.17e-2 |
SMART |
FN3
|
811 |
892 |
1.16e-6 |
SMART |
FN3
|
907 |
987 |
2.46e-1 |
SMART |
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068378
AA Change: I636L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067842 Gene: ENSMUSG00000055022 AA Change: I636L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
IG
|
143 |
232 |
1.25e-4 |
SMART |
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
IG
|
511 |
603 |
3.51e-8 |
SMART |
FN3
|
606 |
692 |
6.69e-12 |
SMART |
FN3
|
709 |
795 |
1.17e-2 |
SMART |
FN3
|
811 |
892 |
1.16e-6 |
SMART |
FN3
|
907 |
987 |
2.46e-1 |
SMART |
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169825
AA Change: I636L
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133063 Gene: ENSMUSG00000055022 AA Change: I636L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
56 |
121 |
4.07e-4 |
SMART |
IG
|
143 |
232 |
1.25e-4 |
SMART |
IGc2
|
254 |
317 |
1.24e-17 |
SMART |
IGc2
|
343 |
398 |
4.22e-11 |
SMART |
IGc2
|
427 |
491 |
2.52e-9 |
SMART |
IG
|
511 |
603 |
3.51e-8 |
SMART |
FN3
|
606 |
692 |
6.69e-12 |
SMART |
FN3
|
709 |
795 |
1.17e-2 |
SMART |
FN3
|
811 |
892 |
1.16e-6 |
SMART |
FN3
|
907 |
987 |
2.46e-1 |
SMART |
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
Gnb1 |
T |
C |
4: 155,618,148 (GRCm39) |
|
probably benign |
Het |
Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
Ntn4 |
T |
G |
10: 93,543,211 (GRCm39) |
N312K |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,637,983 (GRCm39) |
V365A |
possibly damaging |
Het |
Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
Pramel21 |
A |
C |
4: 143,341,643 (GRCm39) |
D24A |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
Slfn4 |
T |
C |
11: 83,077,800 (GRCm39) |
L196P |
possibly damaging |
Het |
Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
Wdfy1 |
A |
G |
1: 79,692,661 (GRCm39) |
S219P |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly damaging |
Het |
|
Other mutations in Cntn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Cntn1
|
APN |
15 |
92,148,758 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01109:Cntn1
|
APN |
15 |
92,237,458 (GRCm39) |
nonsense |
probably null |
|
IGL01399:Cntn1
|
APN |
15 |
92,203,025 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01714:Cntn1
|
APN |
15 |
92,151,870 (GRCm39) |
nonsense |
probably null |
|
IGL02342:Cntn1
|
APN |
15 |
92,143,898 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02507:Cntn1
|
APN |
15 |
92,148,860 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02511:Cntn1
|
APN |
15 |
92,114,266 (GRCm39) |
start gained |
probably benign |
|
IGL02702:Cntn1
|
APN |
15 |
92,189,482 (GRCm39) |
splice site |
probably benign |
|
IGL02927:Cntn1
|
APN |
15 |
92,189,561 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02948:Cntn1
|
APN |
15 |
92,143,891 (GRCm39) |
missense |
probably benign |
0.01 |
R0035:Cntn1
|
UTSW |
15 |
92,129,969 (GRCm39) |
splice site |
probably benign |
|
R0084:Cntn1
|
UTSW |
15 |
92,215,798 (GRCm39) |
missense |
probably benign |
0.01 |
R0346:Cntn1
|
UTSW |
15 |
92,129,968 (GRCm39) |
splice site |
probably benign |
|
R0634:Cntn1
|
UTSW |
15 |
92,212,444 (GRCm39) |
nonsense |
probably null |
|
R1348:Cntn1
|
UTSW |
15 |
92,212,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R1613:Cntn1
|
UTSW |
15 |
92,143,871 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1793:Cntn1
|
UTSW |
15 |
92,189,552 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1815:Cntn1
|
UTSW |
15 |
92,148,829 (GRCm39) |
missense |
probably benign |
0.00 |
R1851:Cntn1
|
UTSW |
15 |
92,203,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R1852:Cntn1
|
UTSW |
15 |
92,203,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R2068:Cntn1
|
UTSW |
15 |
92,215,943 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2269:Cntn1
|
UTSW |
15 |
92,192,863 (GRCm39) |
splice site |
probably benign |
|
R4394:Cntn1
|
UTSW |
15 |
92,189,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Cntn1
|
UTSW |
15 |
92,192,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Cntn1
|
UTSW |
15 |
92,202,972 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4944:Cntn1
|
UTSW |
15 |
92,126,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R5044:Cntn1
|
UTSW |
15 |
92,140,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5218:Cntn1
|
UTSW |
15 |
92,237,430 (GRCm39) |
missense |
unknown |
|
R5314:Cntn1
|
UTSW |
15 |
92,192,892 (GRCm39) |
missense |
probably benign |
0.01 |
R5445:Cntn1
|
UTSW |
15 |
92,192,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R5518:Cntn1
|
UTSW |
15 |
92,212,534 (GRCm39) |
missense |
probably benign |
0.00 |
R6849:Cntn1
|
UTSW |
15 |
92,203,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R6885:Cntn1
|
UTSW |
15 |
92,140,980 (GRCm39) |
critical splice donor site |
probably null |
|
R7035:Cntn1
|
UTSW |
15 |
92,212,392 (GRCm39) |
missense |
probably benign |
0.04 |
R7070:Cntn1
|
UTSW |
15 |
92,151,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Cntn1
|
UTSW |
15 |
92,143,833 (GRCm39) |
splice site |
probably null |
|
R7311:Cntn1
|
UTSW |
15 |
92,130,156 (GRCm39) |
critical splice donor site |
probably null |
|
R7401:Cntn1
|
UTSW |
15 |
92,215,870 (GRCm39) |
missense |
probably benign |
|
R7484:Cntn1
|
UTSW |
15 |
92,151,922 (GRCm39) |
missense |
probably benign |
0.00 |
R7492:Cntn1
|
UTSW |
15 |
92,212,423 (GRCm39) |
missense |
probably benign |
|
R7617:Cntn1
|
UTSW |
15 |
92,143,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Cntn1
|
UTSW |
15 |
92,207,890 (GRCm39) |
missense |
probably benign |
0.14 |
R7878:Cntn1
|
UTSW |
15 |
92,192,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Cntn1
|
UTSW |
15 |
92,130,130 (GRCm39) |
missense |
probably benign |
|
R8454:Cntn1
|
UTSW |
15 |
92,130,130 (GRCm39) |
missense |
probably benign |
|
R8465:Cntn1
|
UTSW |
15 |
92,237,404 (GRCm39) |
frame shift |
probably null |
|
R8757:Cntn1
|
UTSW |
15 |
92,153,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8759:Cntn1
|
UTSW |
15 |
92,153,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8767:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8768:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Cntn1
|
UTSW |
15 |
92,159,380 (GRCm39) |
missense |
probably benign |
0.00 |
R8972:Cntn1
|
UTSW |
15 |
92,150,278 (GRCm39) |
missense |
probably benign |
0.18 |
R8993:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8995:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Cntn1
|
UTSW |
15 |
92,132,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R9151:Cntn1
|
UTSW |
15 |
92,140,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R9438:Cntn1
|
UTSW |
15 |
92,144,024 (GRCm39) |
critical splice donor site |
probably null |
|
R9493:Cntn1
|
UTSW |
15 |
92,189,644 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cntn1
|
UTSW |
15 |
92,207,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |