Incidental Mutation 'IGL01710:Cntn4'
| ID |
104770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cntn4
|
| Ensembl Gene |
ENSMUSG00000064293 |
| Gene Name |
contactin 4 |
| Synonyms |
BIG-2A, Axcam |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
IGL01710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106527392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 425
(V425I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079416]
[ENSMUST00000089208]
[ENSMUST00000113258]
[ENSMUST00000113260]
[ENSMUST00000113261]
[ENSMUST00000113264]
|
| AlphaFold |
Q69Z26 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079416
AA Change: V425I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: V425I
| 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
AA Change: V425I
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: V425I
| 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
AA Change: V425I
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
AA Change: V425I
| 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
AA Change: V425I
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: V425I
| 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
AA Change: V425I
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: V425I
| 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
AA Change: V425I
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: V425I
| 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: ENSMUST00000132395
|
| 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 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
G |
A |
18: 62,004,645 (GRCm39) |
T48I |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,904,723 (GRCm39) |
|
probably benign |
Het |
| Chkb |
G |
A |
15: 89,310,843 (GRCm39) |
Q379* |
probably null |
Het |
| Chst15 |
T |
A |
7: 131,872,236 (GRCm39) |
D15V |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,395,497 (GRCm39) |
N390I |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,587,872 (GRCm39) |
F193S |
probably damaging |
Het |
| Ell3 |
T |
C |
2: 121,271,993 (GRCm39) |
H128R |
probably damaging |
Het |
| Ercc5 |
T |
G |
1: 44,203,235 (GRCm39) |
L291V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,235 (GRCm39) |
Y302C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,810,612 (GRCm39) |
L26R |
probably damaging |
Het |
| Galntl6 |
T |
A |
8: 58,989,002 (GRCm39) |
D17V |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Gstt2 |
A |
G |
10: 75,669,579 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,233,114 (GRCm39) |
L221Q |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,554 (GRCm39) |
|
probably benign |
Het |
| Kctd12b |
T |
C |
X: 152,472,479 (GRCm39) |
D70G |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,152,320 (GRCm39) |
E125D |
probably benign |
Het |
| Klk1b21 |
T |
A |
7: 43,755,919 (GRCm39) |
F249L |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,687,980 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or5p58 |
G |
T |
7: 107,694,449 (GRCm39) |
F109L |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,814,026 (GRCm39) |
S718T |
probably damaging |
Het |
| Pex6 |
A |
G |
17: 47,036,252 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
T |
A |
19: 42,093,418 (GRCm39) |
L253Q |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,490 (GRCm39) |
F100I |
probably damaging |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,980,404 (GRCm39) |
E312G |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,873,745 (GRCm39) |
I685V |
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,246,164 (GRCm39) |
E586G |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,567,388 (GRCm39) |
T841K |
probably damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,211,527 (GRCm39) |
L163* |
probably null |
Het |
| Slc35f3 |
A |
T |
8: 127,115,900 (GRCm39) |
I276F |
probably benign |
Het |
| Tcerg1l |
T |
A |
7: 137,996,789 (GRCm39) |
K149N |
possibly damaging |
Het |
| Tex28 |
T |
A |
X: 73,195,939 (GRCm39) |
K278* |
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,793 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
A |
G |
17: 56,478,782 (GRCm39) |
K24R |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,321,455 (GRCm39) |
|
probably benign |
Het |
| Uba1 |
C |
T |
X: 20,537,604 (GRCm39) |
T274I |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,254,335 (GRCm39) |
T1439A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,145,772 (GRCm39) |
D1523G |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,788 (GRCm39) |
T90S |
probably benign |
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 |
|
|
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 |
|
R1199:Cntn4
|
UTSW |
6 |
106,330,558 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation