Incidental Mutation 'IGL01933:Cntn4'
| ID |
180497 |
| 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 # |
IGL01933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106671345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 976
(S976N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089208]
[ENSMUST00000113264]
|
| AlphaFold |
Q69Z26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089208
AA Change: S976N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: S976N
| 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 damaging
Transcript: ENSMUST00000113264
AA Change: S976N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: S976N
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204621
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,650 (GRCm39) |
V575F |
possibly damaging |
Het |
| Abca2 |
T |
A |
2: 25,334,123 (GRCm39) |
V1800E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,322,251 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
C |
A |
8: 44,104,569 (GRCm39) |
G359W |
probably damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,254,493 (GRCm39) |
T372I |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,147,574 (GRCm39) |
D847G |
probably damaging |
Het |
| Arap3 |
T |
A |
18: 38,111,506 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Atp10b |
A |
C |
11: 43,085,457 (GRCm39) |
T279P |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,578 (GRCm39) |
M78K |
possibly damaging |
Het |
| Ccdc61 |
T |
G |
7: 18,626,483 (GRCm39) |
M369L |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,933,304 (GRCm39) |
I758N |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,468,047 (GRCm39) |
*526W |
probably null |
Het |
| Cgnl1 |
C |
T |
9: 71,552,765 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,315,104 (GRCm39) |
Y173H |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,937,313 (GRCm39) |
T1401I |
probably benign |
Het |
| D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,614,558 (GRCm39) |
R163* |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 50,010,852 (GRCm39) |
T1003K |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 31,032,872 (GRCm39) |
R388W |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,132,772 (GRCm39) |
A202T |
probably damaging |
Het |
| Egr2 |
T |
C |
10: 67,376,024 (GRCm39) |
S220P |
probably damaging |
Het |
| Fntb |
C |
T |
12: 76,966,880 (GRCm39) |
P405S |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm26602 |
C |
A |
10: 79,746,955 (GRCm39) |
R236L |
probably benign |
Het |
| Hao2 |
T |
C |
3: 98,787,648 (GRCm39) |
|
probably benign |
Het |
| Irgm2 |
A |
T |
11: 58,110,783 (GRCm39) |
N170I |
possibly damaging |
Het |
| Klhl20 |
G |
A |
1: 160,934,357 (GRCm39) |
R221W |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,939 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
C |
T |
11: 96,926,354 (GRCm39) |
E181K |
probably benign |
Het |
| Lztr1 |
T |
A |
16: 17,338,455 (GRCm39) |
V226E |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,665,418 (GRCm39) |
D684E |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,732,349 (GRCm39) |
T713A |
probably damaging |
Het |
| Nrap |
G |
T |
19: 56,377,250 (GRCm39) |
N62K |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,699,021 (GRCm39) |
Y180C |
probably damaging |
Het |
| Or5an1 |
A |
T |
19: 12,261,069 (GRCm39) |
Y219F |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,662,016 (GRCm39) |
D708G |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,488,393 (GRCm39) |
P1717L |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,683,789 (GRCm39) |
D1095G |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,197,576 (GRCm39) |
H771R |
probably benign |
Het |
| R3hcc1l |
G |
A |
19: 42,551,389 (GRCm39) |
A129T |
probably damaging |
Het |
| Rbm15 |
G |
A |
3: 107,238,419 (GRCm39) |
R660W |
probably damaging |
Het |
| Recql |
C |
T |
6: 142,310,364 (GRCm39) |
V489M |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,626,897 (GRCm39) |
S162R |
probably damaging |
Het |
| Sec11a |
T |
C |
7: 80,584,810 (GRCm39) |
I42M |
probably benign |
Het |
| Slc25a23 |
G |
A |
17: 57,359,813 (GRCm39) |
Q61* |
probably null |
Het |
| Son |
A |
T |
16: 91,454,903 (GRCm39) |
M1217L |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,339,593 (GRCm39) |
N123S |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,088,441 (GRCm39) |
|
probably benign |
Het |
| St13 |
T |
C |
15: 81,273,899 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
A |
T |
4: 117,889,072 (GRCm39) |
D57E |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,940,505 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,894 (GRCm39) |
T107A |
possibly damaging |
Het |
| Tmem135 |
G |
T |
7: 88,793,065 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,283,467 (GRCm39) |
M696T |
probably benign |
Het |
| Trbv28 |
T |
A |
6: 41,248,761 (GRCm39) |
L97Q |
probably damaging |
Het |
| Trpc4ap |
A |
T |
2: 155,481,455 (GRCm39) |
F534I |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,254,127 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,871 (GRCm39) |
T239A |
probably benign |
Het |
| Zmym5 |
T |
G |
14: 57,041,617 (GRCm39) |
H162P |
probably 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 |
|
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 |
2014-05-07 |
Incidental Mutation