Incidental Mutation 'R0098:Cntn4'
ID |
17062 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn4
|
Ensembl Gene |
ENSMUSG00000064293 |
Gene Name |
contactin 4 |
Synonyms |
BIG-2A, Axcam |
MMRRC Submission |
038384-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R0098 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 106595385 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: ENSMUST00000132395
|
Coding Region Coverage |
- 1x: 90.4%
- 3x: 88.1%
- 10x: 82.9%
- 20x: 75.6%
|
Validation Efficiency |
93% (78/84) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061I04Rik |
A |
T |
17: 36,207,309 (GRCm39) |
|
probably benign |
Het |
Acad9 |
T |
C |
3: 36,127,689 (GRCm39) |
I97T |
probably damaging |
Het |
Adam32 |
T |
A |
8: 25,404,405 (GRCm39) |
Y200F |
possibly damaging |
Het |
Adcy4 |
T |
C |
14: 56,007,284 (GRCm39) |
N976S |
possibly damaging |
Het |
Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,482,982 (GRCm39) |
L342S |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,598,056 (GRCm39) |
H72Q |
possibly damaging |
Het |
Ankrd10 |
T |
C |
8: 11,662,560 (GRCm39) |
H391R |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,465,390 (GRCm39) |
V2151A |
probably damaging |
Het |
Atm |
T |
C |
9: 53,429,869 (GRCm39) |
D389G |
probably benign |
Het |
Atp10b |
A |
T |
11: 43,080,431 (GRCm39) |
S236C |
probably benign |
Het |
B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
Bcl9l |
C |
T |
9: 44,416,914 (GRCm39) |
P251S |
probably benign |
Het |
Cdhr5 |
C |
A |
7: 140,849,781 (GRCm39) |
G331W |
probably damaging |
Het |
Cmklr1 |
T |
C |
5: 113,752,531 (GRCm39) |
T157A |
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,646,949 (GRCm39) |
E246D |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,909,792 (GRCm39) |
L1078P |
probably damaging |
Het |
Cyp20a1 |
G |
T |
1: 60,426,413 (GRCm39) |
E452* |
probably null |
Het |
Emb |
T |
C |
13: 117,404,034 (GRCm39) |
V262A |
probably damaging |
Het |
Ephb1 |
C |
T |
9: 101,918,339 (GRCm39) |
R390H |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,792,696 (GRCm39) |
L556S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,189,431 (GRCm39) |
T1196A |
probably damaging |
Het |
Fbf1 |
A |
T |
11: 116,038,945 (GRCm39) |
|
probably null |
Het |
Gid8 |
T |
A |
2: 180,356,528 (GRCm39) |
I55N |
possibly damaging |
Het |
Hexa |
T |
C |
9: 59,465,383 (GRCm39) |
Y213H |
probably damaging |
Het |
Igf2bp1 |
T |
C |
11: 95,863,989 (GRCm39) |
K234E |
probably damaging |
Het |
Ighv1-58 |
C |
T |
12: 115,275,919 (GRCm39) |
G73E |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,795,989 (GRCm39) |
I1262K |
possibly damaging |
Het |
Lrp1 |
C |
T |
10: 127,388,607 (GRCm39) |
V3281I |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,305,756 (GRCm39) |
D2935G |
probably damaging |
Het |
Lypd6 |
T |
A |
2: 50,080,792 (GRCm39) |
V160E |
probably benign |
Het |
Muc19 |
C |
T |
15: 91,777,101 (GRCm39) |
|
noncoding transcript |
Het |
Nrxn3 |
A |
G |
12: 89,226,971 (GRCm39) |
D202G |
probably damaging |
Het |
Nxn |
A |
T |
11: 76,169,420 (GRCm39) |
|
probably benign |
Het |
Or5b107 |
T |
A |
19: 13,143,026 (GRCm39) |
I216K |
probably benign |
Het |
Palld |
C |
A |
8: 61,978,120 (GRCm39) |
G890V |
probably damaging |
Het |
Pcx |
C |
A |
19: 4,651,775 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,639,441 (GRCm39) |
S416P |
unknown |
Het |
Ppa2 |
C |
T |
3: 133,076,234 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,888 (GRCm39) |
I254M |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
Rd3 |
A |
G |
1: 191,717,261 (GRCm39) |
M244V |
probably benign |
Het |
Rfx5 |
T |
A |
3: 94,865,679 (GRCm39) |
V326E |
probably damaging |
Het |
Rgs3 |
G |
C |
4: 62,544,143 (GRCm39) |
R305P |
probably damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,970 (GRCm39) |
Y173H |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,731,376 (GRCm39) |
N645D |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,302,446 (GRCm39) |
V657A |
possibly damaging |
Het |
Serpina3n |
T |
A |
12: 104,379,777 (GRCm39) |
V390E |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,962,709 (GRCm39) |
Y141C |
unknown |
Het |
Smg1 |
A |
T |
7: 117,744,690 (GRCm39) |
M3154K |
probably benign |
Het |
Tdrd12 |
A |
G |
7: 35,175,418 (GRCm39) |
L996P |
probably damaging |
Het |
Tfrc |
G |
T |
16: 32,442,244 (GRCm39) |
V490F |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,343,784 (GRCm39) |
S53G |
probably benign |
Het |
Topaz1 |
T |
C |
9: 122,619,188 (GRCm39) |
Y1262H |
possibly damaging |
Het |
Ttc3 |
A |
T |
16: 94,191,124 (GRCm39) |
H222L |
probably benign |
Het |
Ubxn8 |
T |
C |
8: 34,125,393 (GRCm39) |
|
probably benign |
Het |
Unk |
A |
G |
11: 115,940,995 (GRCm39) |
Y252C |
probably damaging |
Het |
Vwc2l |
A |
G |
1: 70,768,290 (GRCm39) |
Y71C |
probably damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,834 (GRCm39) |
L184* |
probably null |
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 |
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 |
2013-01-20 |