Incidental Mutation 'R1199:Cntn4'
ID |
101204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn4
|
Ensembl Gene |
ENSMUSG00000064293 |
Gene Name |
contactin 4 |
Synonyms |
BIG-2A, Axcam |
MMRRC Submission |
039269-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R1199 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 106330558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079416]
[ENSMUST00000089208]
[ENSMUST00000113258]
[ENSMUST00000113260]
[ENSMUST00000113261]
[ENSMUST00000113264]
|
AlphaFold |
Q69Z26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079416
|
SMART Domains |
Protein: ENSMUSP00000078385 Gene: ENSMUSG00000064293
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
IG
|
129 |
215 |
3.4e-6 |
SMART |
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
IG
|
504 |
594 |
9.55e-10 |
SMART |
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089208
|
SMART Domains |
Protein: ENSMUSP00000086616 Gene: ENSMUSG00000064293
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
IG
|
129 |
215 |
3.4e-6 |
SMART |
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
IG
|
504 |
594 |
9.55e-10 |
SMART |
FN3
|
597 |
683 |
1.54e-11 |
SMART |
FN3
|
700 |
786 |
8.39e0 |
SMART |
FN3
|
801 |
886 |
1.33e-6 |
SMART |
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113258
|
SMART Domains |
Protein: ENSMUSP00000108883 Gene: ENSMUSG00000064293
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
IG
|
129 |
215 |
3.4e-6 |
SMART |
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113260
|
SMART Domains |
Protein: ENSMUSP00000108885 Gene: ENSMUSG00000064293
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
IG
|
129 |
215 |
3.4e-6 |
SMART |
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
IG
|
504 |
594 |
9.55e-10 |
SMART |
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113261
|
SMART Domains |
Protein: ENSMUSP00000108886 Gene: ENSMUSG00000064293
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
IG
|
129 |
215 |
3.4e-6 |
SMART |
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
IG
|
504 |
594 |
9.55e-10 |
SMART |
FN3
|
597 |
683 |
1.54e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113264
|
SMART Domains |
Protein: ENSMUSP00000108889 Gene: ENSMUSG00000064293
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
2.32e-8 |
SMART |
IG
|
129 |
215 |
3.4e-6 |
SMART |
IGc2
|
238 |
302 |
8.76e-18 |
SMART |
IGc2
|
328 |
391 |
2.91e-14 |
SMART |
IGc2
|
420 |
484 |
1.58e-10 |
SMART |
IG
|
504 |
594 |
9.55e-10 |
SMART |
FN3
|
597 |
683 |
1.54e-11 |
SMART |
FN3
|
700 |
786 |
8.39e0 |
SMART |
FN3
|
801 |
886 |
1.33e-6 |
SMART |
FN3
|
901 |
981 |
9.85e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125904
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
96% (55/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [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 |
1700102P08Rik |
A |
T |
9: 108,270,676 (GRCm39) |
H80L |
possibly damaging |
Het |
A1bg |
A |
T |
15: 60,791,484 (GRCm39) |
|
probably null |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,256,756 (GRCm39) |
Y1283F |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,842,973 (GRCm39) |
V107A |
probably damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Btnl9 |
A |
T |
11: 49,071,574 (GRCm39) |
V83E |
probably damaging |
Het |
Camk2a |
T |
A |
18: 61,085,396 (GRCm39) |
C131* |
probably null |
Het |
Ccdc14 |
C |
T |
16: 34,544,198 (GRCm39) |
T852M |
probably damaging |
Het |
Cp |
T |
G |
3: 20,031,316 (GRCm39) |
S585R |
probably damaging |
Het |
Cpt1b |
G |
A |
15: 89,303,213 (GRCm39) |
A614V |
probably benign |
Het |
Crygn |
T |
C |
5: 24,956,146 (GRCm39) |
Y153C |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,851,728 (GRCm39) |
D53E |
probably damaging |
Het |
Deptor |
T |
C |
15: 55,115,406 (GRCm39) |
C357R |
probably benign |
Het |
Dnajc28 |
C |
A |
16: 91,415,530 (GRCm39) |
|
probably benign |
Het |
Eml6 |
G |
A |
11: 29,705,044 (GRCm39) |
A1500V |
possibly damaging |
Het |
Fgd5 |
T |
A |
6: 91,963,959 (GRCm39) |
L64Q |
possibly damaging |
Het |
Fgfbp1 |
A |
G |
5: 44,136,939 (GRCm39) |
Y118H |
probably damaging |
Het |
Ftcd |
G |
A |
10: 76,415,653 (GRCm39) |
R135H |
probably damaging |
Het |
Gm5174 |
A |
T |
10: 86,493,189 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
A |
T |
1: 135,094,710 (GRCm39) |
L178Q |
probably damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,439,918 (GRCm39) |
V104A |
possibly damaging |
Het |
Irs1 |
T |
A |
1: 82,267,347 (GRCm39) |
S290C |
probably damaging |
Het |
Kel |
C |
T |
6: 41,665,525 (GRCm39) |
V532I |
possibly damaging |
Het |
Kif1c |
A |
G |
11: 70,599,427 (GRCm39) |
E442G |
possibly damaging |
Het |
Klhdc10 |
T |
A |
6: 30,449,493 (GRCm39) |
V185D |
probably damaging |
Het |
Lpp |
C |
T |
16: 24,500,610 (GRCm39) |
R141C |
probably damaging |
Het |
Or52a5 |
A |
T |
7: 103,427,192 (GRCm39) |
M120K |
probably damaging |
Het |
Or5m13 |
A |
G |
2: 85,748,379 (GRCm39) |
I37V |
probably benign |
Het |
Pcnx2 |
G |
T |
8: 126,614,053 (GRCm39) |
P466H |
possibly damaging |
Het |
Pcsk1 |
A |
T |
13: 75,244,532 (GRCm39) |
|
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,571,269 (GRCm39) |
|
probably null |
Het |
Pomt1 |
A |
G |
2: 32,140,504 (GRCm39) |
N454S |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,951,381 (GRCm39) |
I452N |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,844,711 (GRCm39) |
Q178R |
probably benign |
Het |
Slc25a44 |
A |
G |
3: 88,328,293 (GRCm39) |
V66A |
probably damaging |
Het |
Slc46a2 |
T |
C |
4: 59,914,189 (GRCm39) |
T245A |
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,363,653 (GRCm39) |
|
probably null |
Het |
Spata6 |
T |
A |
4: 111,656,342 (GRCm39) |
C329S |
possibly damaging |
Het |
Srrm2 |
A |
T |
17: 24,036,725 (GRCm39) |
|
probably benign |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Svil |
T |
A |
18: 5,059,217 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
G |
T |
8: 48,688,617 (GRCm39) |
S2323R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,555,638 (GRCm39) |
R245Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,739,100 (GRCm39) |
V3813A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,780,388 (GRCm39) |
T1121M |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,491,992 (GRCm39) |
V3094I |
probably benign |
Het |
Vcan |
A |
G |
13: 89,827,913 (GRCm39) |
|
probably null |
Het |
Vmn1r189 |
A |
T |
13: 22,286,828 (GRCm39) |
L3Q |
probably damaging |
Het |
Vmn1r60 |
A |
C |
7: 5,547,971 (GRCm39) |
V43G |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,525 (GRCm39) |
I350T |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,284,443 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,863,814 (GRCm39) |
|
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
|
Other mutations in Cntn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Cntn4
|
APN |
6 |
106,483,186 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00725:Cntn4
|
APN |
6 |
106,639,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01062:Cntn4
|
APN |
6 |
106,595,239 (GRCm39) |
splice site |
probably benign |
|
IGL01432:Cntn4
|
APN |
6 |
106,655,295 (GRCm39) |
splice site |
probably benign |
|
IGL01585:Cntn4
|
APN |
6 |
106,595,289 (GRCm39) |
nonsense |
probably null |
|
IGL01710:Cntn4
|
APN |
6 |
106,527,392 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01870:Cntn4
|
APN |
6 |
106,466,676 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01933:Cntn4
|
APN |
6 |
106,671,345 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01937:Cntn4
|
APN |
6 |
106,414,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01945:Cntn4
|
APN |
6 |
106,414,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02007:Cntn4
|
APN |
6 |
106,632,490 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02506:Cntn4
|
APN |
6 |
106,595,349 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02561:Cntn4
|
APN |
6 |
106,500,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03080:Cntn4
|
APN |
6 |
106,632,500 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03338:Cntn4
|
APN |
6 |
106,632,550 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03097:Cntn4
|
UTSW |
6 |
106,330,673 (GRCm39) |
missense |
probably benign |
0.10 |
LCD18:Cntn4
|
UTSW |
6 |
106,530,901 (GRCm39) |
intron |
probably benign |
|
R0083:Cntn4
|
UTSW |
6 |
106,502,330 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0098:Cntn4
|
UTSW |
6 |
106,595,385 (GRCm39) |
splice site |
probably benign |
|
R0501:Cntn4
|
UTSW |
6 |
106,595,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R0626:Cntn4
|
UTSW |
6 |
106,639,539 (GRCm39) |
missense |
probably benign |
0.07 |
R0633:Cntn4
|
UTSW |
6 |
106,656,209 (GRCm39) |
splice site |
probably null |
|
R0730:Cntn4
|
UTSW |
6 |
106,527,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R0849:Cntn4
|
UTSW |
6 |
106,644,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Cntn4
|
UTSW |
6 |
106,644,501 (GRCm39) |
splice site |
probably benign |
|
R0926:Cntn4
|
UTSW |
6 |
106,632,542 (GRCm39) |
missense |
probably benign |
0.21 |
R1293:Cntn4
|
UTSW |
6 |
106,330,685 (GRCm39) |
missense |
probably benign |
0.00 |
R1296:Cntn4
|
UTSW |
6 |
106,486,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R1344:Cntn4
|
UTSW |
6 |
106,321,831 (GRCm39) |
splice site |
probably null |
|
R1418:Cntn4
|
UTSW |
6 |
106,321,831 (GRCm39) |
splice site |
probably null |
|
R1660:Cntn4
|
UTSW |
6 |
106,656,258 (GRCm39) |
missense |
probably benign |
0.35 |
R1751:Cntn4
|
UTSW |
6 |
106,595,371 (GRCm39) |
critical splice donor site |
probably null |
|
R1883:Cntn4
|
UTSW |
6 |
106,656,353 (GRCm39) |
missense |
probably benign |
0.01 |
R1884:Cntn4
|
UTSW |
6 |
106,656,353 (GRCm39) |
missense |
probably benign |
0.01 |
R1899:Cntn4
|
UTSW |
6 |
106,652,774 (GRCm39) |
missense |
probably benign |
0.21 |
R1906:Cntn4
|
UTSW |
6 |
106,330,607 (GRCm39) |
missense |
probably benign |
0.00 |
R2048:Cntn4
|
UTSW |
6 |
106,414,825 (GRCm39) |
splice site |
probably benign |
|
R2113:Cntn4
|
UTSW |
6 |
106,466,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R3177:Cntn4
|
UTSW |
6 |
106,414,925 (GRCm39) |
critical splice donor site |
probably null |
|
R3277:Cntn4
|
UTSW |
6 |
106,414,925 (GRCm39) |
critical splice donor site |
probably null |
|
R3944:Cntn4
|
UTSW |
6 |
106,595,375 (GRCm39) |
missense |
probably benign |
0.10 |
R4401:Cntn4
|
UTSW |
6 |
106,466,625 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4540:Cntn4
|
UTSW |
6 |
106,652,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Cntn4
|
UTSW |
6 |
106,414,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Cntn4
|
UTSW |
6 |
106,502,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Cntn4
|
UTSW |
6 |
106,632,572 (GRCm39) |
missense |
probably benign |
0.04 |
R4816:Cntn4
|
UTSW |
6 |
106,527,458 (GRCm39) |
missense |
probably benign |
|
R4873:Cntn4
|
UTSW |
6 |
106,414,874 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4875:Cntn4
|
UTSW |
6 |
106,414,874 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4953:Cntn4
|
UTSW |
6 |
106,502,379 (GRCm39) |
missense |
probably benign |
0.01 |
R5288:Cntn4
|
UTSW |
6 |
106,158,765 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5336:Cntn4
|
UTSW |
6 |
106,639,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5386:Cntn4
|
UTSW |
6 |
106,158,765 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5477:Cntn4
|
UTSW |
6 |
106,650,911 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5514:Cntn4
|
UTSW |
6 |
106,649,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Cntn4
|
UTSW |
6 |
106,656,397 (GRCm39) |
splice site |
silent |
|
R6334:Cntn4
|
UTSW |
6 |
106,321,747 (GRCm39) |
missense |
probably benign |
|
R6334:Cntn4
|
UTSW |
6 |
106,483,153 (GRCm39) |
missense |
probably benign |
0.29 |
R6904:Cntn4
|
UTSW |
6 |
106,674,544 (GRCm39) |
missense |
probably benign |
0.03 |
R6985:Cntn4
|
UTSW |
6 |
106,656,378 (GRCm39) |
missense |
probably benign |
0.03 |
R7246:Cntn4
|
UTSW |
6 |
106,483,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R7282:Cntn4
|
UTSW |
6 |
106,502,421 (GRCm39) |
missense |
probably damaging |
0.99 |
R7585:Cntn4
|
UTSW |
6 |
106,466,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7667:Cntn4
|
UTSW |
6 |
106,656,856 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7781:Cntn4
|
UTSW |
6 |
106,500,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R7882:Cntn4
|
UTSW |
6 |
106,330,684 (GRCm39) |
missense |
probably benign |
|
R8081:Cntn4
|
UTSW |
6 |
106,651,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8105:Cntn4
|
UTSW |
6 |
106,330,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8221:Cntn4
|
UTSW |
6 |
106,486,471 (GRCm39) |
missense |
probably benign |
0.17 |
R8910:Cntn4
|
UTSW |
6 |
106,632,497 (GRCm39) |
missense |
probably benign |
0.10 |
R8911:Cntn4
|
UTSW |
6 |
106,330,743 (GRCm39) |
critical splice donor site |
probably null |
|
R8916:Cntn4
|
UTSW |
6 |
106,652,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R9249:Cntn4
|
UTSW |
6 |
106,466,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9376:Cntn4
|
UTSW |
6 |
106,639,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9616:Cntn4
|
UTSW |
6 |
106,674,525 (GRCm39) |
nonsense |
probably null |
|
R9767:Cntn4
|
UTSW |
6 |
106,655,395 (GRCm39) |
missense |
probably benign |
0.40 |
Z1176:Cntn4
|
UTSW |
6 |
106,500,524 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Cntn4
|
UTSW |
6 |
106,486,425 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Cntn4
|
UTSW |
6 |
106,639,579 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cntn4
|
UTSW |
6 |
106,527,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTACTATAGAAGACAGCCCTCTCCCC -3'
(R):5'- TCAGGCTCTATGAAACATACCTCTTTGC -3'
Sequencing Primer
(F):5'- AGCCCTCTCCCCACAAG -3'
(R):5'- CTGTCAGAAGGTACTGTTTGTAAAG -3'
|
Posted On |
2014-01-15 |