Incidental Mutation 'R5668:Cntn4'
ID |
501238 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn4
|
Ensembl Gene |
ENSMUSG00000064293 |
Gene Name |
contactin 4 |
Synonyms |
BIG-2A, Axcam |
MMRRC Submission |
043311-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R5668 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
105654621-106676271 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 106656397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089208]
[ENSMUST00000113264]
|
AlphaFold |
Q69Z26 |
Predicted Effect |
silent
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 |
silent
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: ENSMUST00000123596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204621
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
99% (84/85) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
G |
7: 28,603,975 (GRCm39) |
W429R |
probably damaging |
Het |
Afg1l |
C |
T |
10: 42,236,236 (GRCm39) |
C272Y |
probably damaging |
Het |
Agrn |
T |
C |
4: 156,251,770 (GRCm39) |
T1831A |
probably damaging |
Het |
Aifm2 |
T |
C |
10: 61,561,696 (GRCm39) |
V14A |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,920,321 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
A |
T |
2: 180,615,912 (GRCm39) |
D197V |
possibly damaging |
Het |
Atp1a3 |
T |
C |
7: 24,678,294 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,817,350 (GRCm39) |
I1387M |
probably damaging |
Het |
Cavin4 |
A |
G |
4: 48,672,499 (GRCm39) |
T315A |
probably benign |
Het |
Cep128 |
T |
C |
12: 90,966,410 (GRCm39) |
T1066A |
probably benign |
Het |
Cln3 |
T |
C |
7: 126,171,558 (GRCm39) |
T376A |
probably benign |
Het |
Colec12 |
T |
A |
18: 9,848,963 (GRCm39) |
D380E |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,559,151 (GRCm39) |
I2371V |
possibly damaging |
Het |
Cspg4b |
A |
G |
13: 113,453,701 (GRCm39) |
S55G |
possibly damaging |
Het |
Cxcl3 |
T |
C |
5: 90,935,299 (GRCm39) |
S99P |
unknown |
Het |
Ddx60 |
A |
G |
8: 62,453,612 (GRCm39) |
R1244G |
probably benign |
Het |
Dhx38 |
T |
C |
8: 110,280,048 (GRCm39) |
D914G |
probably damaging |
Het |
Dlc1 |
T |
G |
8: 37,404,655 (GRCm39) |
|
probably benign |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,393 (GRCm39) |
I264F |
probably benign |
Het |
Fam161b |
A |
G |
12: 84,403,124 (GRCm39) |
S169P |
probably damaging |
Het |
Fastkd1 |
A |
G |
2: 69,537,725 (GRCm39) |
S286P |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,409,603 (GRCm39) |
E612V |
unknown |
Het |
Foxb1 |
T |
A |
9: 69,667,528 (GRCm39) |
M1L |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,007,402 (GRCm39) |
C164* |
probably null |
Het |
Gm43302 |
T |
A |
5: 105,423,678 (GRCm39) |
M432L |
probably benign |
Het |
Gm4353 |
C |
A |
7: 115,682,913 (GRCm39) |
A223S |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,391,693 (GRCm39) |
K143R |
unknown |
Het |
Gpr15 |
A |
G |
16: 58,538,013 (GRCm39) |
S359P |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,119,207 (GRCm39) |
L649P |
probably damaging |
Het |
H2-M10.5 |
C |
A |
17: 37,085,473 (GRCm39) |
H211N |
probably damaging |
Het |
Hs6st1 |
T |
C |
1: 36,142,970 (GRCm39) |
Y302H |
probably damaging |
Het |
Khdrbs2 |
A |
T |
1: 32,506,851 (GRCm39) |
D165V |
probably damaging |
Het |
Klra13-ps |
T |
G |
6: 130,281,246 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc37 |
T |
A |
11: 103,507,880 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,391,001 (GRCm39) |
T1475S |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,184,844 (GRCm39) |
S437P |
probably damaging |
Het |
Maz |
C |
T |
7: 126,624,494 (GRCm39) |
C342Y |
probably damaging |
Het |
Mcf2l |
C |
A |
8: 13,063,812 (GRCm39) |
S1008* |
probably null |
Het |
Mcmbp |
T |
C |
7: 128,314,478 (GRCm39) |
D246G |
probably benign |
Het |
Mipol1 |
G |
A |
12: 57,372,346 (GRCm39) |
R135H |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,357,955 (GRCm39) |
Y4613F |
possibly damaging |
Het |
Nup188 |
G |
A |
2: 30,226,336 (GRCm39) |
A1118T |
probably damaging |
Het |
Or10g6 |
A |
T |
9: 39,933,964 (GRCm39) |
I92F |
probably damaging |
Het |
Or2k2 |
T |
A |
4: 58,785,489 (GRCm39) |
I78F |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,688 (GRCm39) |
L185F |
probably damaging |
Het |
Or4c121 |
A |
T |
2: 89,024,170 (GRCm39) |
D69E |
possibly damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,290 (GRCm39) |
S238P |
probably damaging |
Het |
Or51f1e |
A |
T |
7: 102,747,103 (GRCm39) |
S52C |
probably benign |
Het |
Or51h7 |
T |
C |
7: 102,591,128 (GRCm39) |
K219E |
probably benign |
Het |
P3h1 |
T |
A |
4: 119,101,243 (GRCm39) |
I460N |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,245,334 (GRCm39) |
D1101G |
probably benign |
Het |
Phlpp2 |
C |
A |
8: 110,655,205 (GRCm39) |
Q667K |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,074,666 (GRCm39) |
F434L |
possibly damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,164,602 (GRCm39) |
I602N |
probably damaging |
Het |
Rdh8 |
A |
C |
9: 20,736,475 (GRCm39) |
I181L |
probably benign |
Het |
Rnf181 |
A |
G |
6: 72,338,505 (GRCm39) |
M1T |
probably null |
Het |
Rpl29-ps2 |
A |
G |
13: 4,664,221 (GRCm39) |
|
noncoding transcript |
Het |
Sart3 |
A |
G |
5: 113,883,217 (GRCm39) |
|
probably null |
Het |
Sec14l2 |
A |
C |
11: 4,059,189 (GRCm39) |
L160R |
probably damaging |
Het |
Senp1 |
C |
T |
15: 97,946,236 (GRCm39) |
R503H |
probably damaging |
Het |
Shoc1 |
A |
G |
4: 59,047,399 (GRCm39) |
S1407P |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,827,296 (GRCm39) |
V316A |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,556,898 (GRCm39) |
I365F |
possibly damaging |
Het |
Spag5 |
T |
C |
11: 78,195,542 (GRCm39) |
V283A |
possibly damaging |
Het |
Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
Sun3 |
A |
G |
11: 8,981,433 (GRCm39) |
|
probably null |
Het |
Syt6 |
A |
G |
3: 103,528,217 (GRCm39) |
Y312C |
probably damaging |
Het |
Tas2r121 |
T |
A |
6: 132,677,756 (GRCm39) |
Y72F |
possibly damaging |
Het |
Tfrc |
A |
G |
16: 32,442,194 (GRCm39) |
Y473C |
probably damaging |
Het |
Trp63 |
C |
T |
16: 25,684,935 (GRCm39) |
A274V |
possibly damaging |
Het |
Trpm5 |
T |
C |
7: 142,626,966 (GRCm39) |
D1085G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,745,008 (GRCm39) |
V5347A |
probably benign |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Vma21-ps |
T |
A |
4: 52,496,946 (GRCm39) |
Q100L |
possibly damaging |
Het |
Vmn2r22 |
T |
C |
6: 123,614,873 (GRCm39) |
N239S |
probably benign |
Het |
Wfdc8 |
T |
C |
2: 164,439,339 (GRCm39) |
|
probably benign |
Het |
Xkr4 |
T |
A |
1: 3,741,258 (GRCm39) |
Y105F |
probably damaging |
Het |
Xpo7 |
C |
T |
14: 70,920,286 (GRCm39) |
V627I |
possibly damaging |
Het |
Zfp606 |
T |
C |
7: 12,226,479 (GRCm39) |
V200A |
probably benign |
Het |
Zfp936 |
A |
T |
7: 42,839,858 (GRCm39) |
S441C |
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 |
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 |
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'- CCAGTGGATATAATTTCCAAGGTCG -3'
(R):5'- TCTGGAGCAATGAATTTGGCATG -3'
Sequencing Primer
(F):5'- TCTCAAGGTAAAATATTGGAGACATG -3'
(R):5'- GGAGCAATGAATTTGGCATGCTATTC -3'
|
Posted On |
2017-12-01 |