Incidental Mutation 'IGL02948:Cntn1'
ID |
364835 |
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 # |
IGL02948
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91949034-92239834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92143891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 285
(T285A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133063
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000109]
[ENSMUST00000068378]
[ENSMUST00000169825]
|
AlphaFold |
P12960 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000109
AA Change: T285A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000000109 Gene: ENSMUSG00000055022 AA Change: T285A
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 |
probably benign
Transcript: ENSMUST00000068378
AA Change: T285A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000067842 Gene: ENSMUSG00000055022 AA Change: T285A
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 |
noncoding transcript
Transcript: ENSMUST00000141187
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169825
AA Change: T285A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133063 Gene: ENSMUSG00000055022 AA Change: T285A
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,094,318 (GRCm39) |
|
probably benign |
Het |
Ano3 |
A |
T |
2: 110,527,363 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
T |
C |
9: 112,005,268 (GRCm39) |
Y193C |
probably damaging |
Het |
Atm |
G |
A |
9: 53,364,740 (GRCm39) |
|
probably benign |
Het |
Ceacam13 |
C |
T |
7: 17,744,988 (GRCm39) |
|
probably benign |
Het |
Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
Clec7a |
A |
C |
6: 129,442,441 (GRCm39) |
D195E |
possibly damaging |
Het |
Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
Dusp4 |
G |
T |
8: 35,285,726 (GRCm39) |
G329V |
probably damaging |
Het |
Emb |
C |
A |
13: 117,409,602 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,355,040 (GRCm39) |
S496T |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,112,648 (GRCm39) |
T1681A |
probably damaging |
Het |
Fam131b |
A |
C |
6: 42,297,926 (GRCm39) |
|
probably benign |
Het |
Fam162b |
T |
C |
10: 51,463,392 (GRCm39) |
M92V |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,695,723 (GRCm39) |
*455W |
probably null |
Het |
Gm12886 |
A |
G |
4: 121,280,234 (GRCm39) |
L14P |
unknown |
Het |
Gpc4 |
A |
T |
X: 51,163,178 (GRCm39) |
V235E |
probably damaging |
Het |
Gss |
A |
G |
2: 155,419,541 (GRCm39) |
L170P |
probably damaging |
Het |
Hbs1l |
C |
T |
10: 21,217,610 (GRCm39) |
|
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,857 (GRCm39) |
M92V |
probably benign |
Het |
Hhla1 |
A |
T |
15: 65,814,542 (GRCm39) |
L194H |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,757 (GRCm39) |
R452S |
probably benign |
Het |
Homer2 |
C |
A |
7: 81,299,393 (GRCm39) |
W24L |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,050,050 (GRCm39) |
L492H |
probably damaging |
Het |
Lrba |
C |
A |
3: 86,217,691 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
T |
2: 69,318,181 (GRCm39) |
P2090Q |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Madd |
T |
A |
2: 90,973,172 (GRCm39) |
M1497L |
probably benign |
Het |
Naprt |
C |
T |
15: 75,764,206 (GRCm39) |
R336Q |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,638,266 (GRCm39) |
C266R |
possibly damaging |
Het |
Or10v1 |
T |
A |
19: 11,874,145 (GRCm39) |
Y253* |
probably null |
Het |
Or5k8 |
T |
A |
16: 58,644,451 (GRCm39) |
Q207L |
probably benign |
Het |
Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,942,507 (GRCm39) |
N86S |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,980,135 (GRCm39) |
T402A |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,943,598 (GRCm39) |
|
probably benign |
Het |
Ropn1l |
T |
C |
15: 31,451,325 (GRCm39) |
D53G |
possibly damaging |
Het |
Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
Rtn2 |
T |
C |
7: 19,027,036 (GRCm39) |
S17P |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,373 (GRCm39) |
V327A |
probably benign |
Het |
Slc22a16 |
T |
G |
10: 40,449,958 (GRCm39) |
Y131* |
probably null |
Het |
Slc28a2 |
T |
A |
2: 122,288,458 (GRCm39) |
M583K |
possibly damaging |
Het |
Slco1a6 |
G |
T |
6: 142,078,961 (GRCm39) |
|
probably null |
Het |
Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,582 (GRCm39) |
R823G |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
Tmem104 |
G |
T |
11: 115,088,122 (GRCm39) |
A36S |
probably damaging |
Het |
Trim55 |
T |
A |
3: 19,725,116 (GRCm39) |
L211Q |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
Unc13a |
C |
T |
8: 72,103,193 (GRCm39) |
R931H |
possibly damaging |
Het |
Utp4 |
T |
A |
8: 107,621,273 (GRCm39) |
S17T |
probably benign |
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 |
|
IGL02052:Cntn1
|
APN |
15 |
92,189,584 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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 |
2015-12-18 |