Incidental Mutation 'IGL02420:Cntn6'
ID |
292651 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
IGL02420
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 104823103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089215
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
5.24e-7 |
SMART |
IG
|
129 |
217 |
2.28e-7 |
SMART |
IGc2
|
240 |
304 |
4e-12 |
SMART |
IGc2
|
330 |
393 |
4.52e-11 |
SMART |
IGc2
|
422 |
486 |
5.48e-10 |
SMART |
IGc2
|
512 |
584 |
1.44e-4 |
SMART |
FN3
|
598 |
684 |
2.17e-11 |
SMART |
FN3
|
701 |
787 |
8.62e0 |
SMART |
FN3
|
803 |
888 |
9.92e-6 |
SMART |
FN3
|
903 |
983 |
8.17e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161070
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092
Domain | Start | End | E-Value | Type |
SCOP:d1cs6a4
|
4 |
40 |
5e-4 |
SMART |
IG
|
57 |
145 |
2.28e-7 |
SMART |
IGc2
|
168 |
232 |
4e-12 |
SMART |
IGc2
|
258 |
321 |
4.52e-11 |
SMART |
IGc2
|
350 |
414 |
5.48e-10 |
SMART |
IGc2
|
440 |
512 |
1.44e-4 |
SMART |
FN3
|
526 |
612 |
2.17e-11 |
SMART |
FN3
|
629 |
715 |
8.62e0 |
SMART |
FN3
|
731 |
816 |
9.92e-6 |
SMART |
FN3
|
831 |
911 |
8.17e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162872
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IGc2
|
41 |
107 |
5.24e-7 |
SMART |
IG
|
129 |
217 |
2.28e-7 |
SMART |
IGc2
|
240 |
304 |
4e-12 |
SMART |
IGc2
|
330 |
393 |
4.52e-11 |
SMART |
IGc2
|
422 |
486 |
5.48e-10 |
SMART |
IGc2
|
512 |
584 |
1.44e-4 |
SMART |
FN3
|
598 |
684 |
2.17e-11 |
SMART |
FN3
|
701 |
787 |
8.62e0 |
SMART |
FN3
|
803 |
888 |
9.92e-6 |
SMART |
FN3
|
903 |
983 |
8.17e0 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] PHENOTYPE: Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,187,494 (GRCm39) |
N136S |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,659,303 (GRCm39) |
S496P |
probably damaging |
Het |
Agbl3 |
T |
A |
6: 34,762,242 (GRCm39) |
S81T |
possibly damaging |
Het |
Apobec1 |
A |
T |
6: 122,558,531 (GRCm39) |
Y75N |
probably benign |
Het |
Asic2 |
A |
G |
11: 80,772,479 (GRCm39) |
L517P |
probably benign |
Het |
Atp8a1 |
A |
G |
5: 67,840,126 (GRCm39) |
S752P |
probably damaging |
Het |
Blm |
T |
C |
7: 80,145,754 (GRCm39) |
Y775C |
probably damaging |
Het |
C1qtnf5 |
T |
C |
9: 44,019,901 (GRCm39) |
I175T |
probably benign |
Het |
Ccdc81 |
G |
A |
7: 89,524,946 (GRCm39) |
T545I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,834,317 (GRCm39) |
E174G |
probably damaging |
Het |
Chl1 |
G |
A |
6: 103,692,330 (GRCm39) |
V1066M |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyren |
T |
C |
6: 34,851,404 (GRCm39) |
Y150C |
probably damaging |
Het |
Cysrt1 |
T |
C |
2: 25,129,360 (GRCm39) |
I51V |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,725,702 (GRCm39) |
N69S |
probably benign |
Het |
Fam83d |
T |
C |
2: 158,627,655 (GRCm39) |
L448P |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,526 (GRCm39) |
|
probably benign |
Het |
Iqcc |
T |
C |
4: 129,510,748 (GRCm39) |
T256A |
probably benign |
Het |
Itprid2 |
T |
C |
2: 79,465,986 (GRCm39) |
S35P |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Lyz1 |
A |
T |
10: 117,124,535 (GRCm39) |
C134S |
probably damaging |
Het |
Mpzl3 |
T |
C |
9: 44,977,815 (GRCm39) |
I141T |
possibly damaging |
Het |
Mterf1a |
T |
C |
5: 3,941,047 (GRCm39) |
N274D |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,709,519 (GRCm39) |
V543D |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,975,852 (GRCm39) |
D1332E |
possibly damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,110 (GRCm39) |
V281A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,138,938 (GRCm39) |
D333V |
probably damaging |
Het |
Plekha7 |
A |
G |
7: 115,757,469 (GRCm39) |
Y494H |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,914,106 (GRCm39) |
N1276S |
probably damaging |
Het |
Ppig |
T |
C |
2: 69,562,571 (GRCm39) |
V5A |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,614,580 (GRCm39) |
|
probably benign |
Het |
Prom1 |
T |
C |
5: 44,220,496 (GRCm39) |
N84S |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,583,929 (GRCm39) |
Y221F |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,731 (GRCm39) |
Y162H |
probably benign |
Het |
Rab2a |
C |
T |
4: 8,572,553 (GRCm39) |
T49M |
possibly damaging |
Het |
Ring1 |
A |
G |
17: 34,242,122 (GRCm39) |
S96P |
possibly damaging |
Het |
Ripk3 |
A |
G |
14: 56,022,691 (GRCm39) |
F411S |
probably benign |
Het |
Rock1 |
T |
C |
18: 10,070,619 (GRCm39) |
|
probably null |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,645 (GRCm39) |
N359S |
probably damaging |
Het |
Sufu |
A |
G |
19: 46,413,481 (GRCm39) |
T76A |
probably damaging |
Het |
Sugct |
C |
A |
13: 17,627,053 (GRCm39) |
V267F |
probably damaging |
Het |
Tcf4 |
A |
T |
18: 69,697,210 (GRCm39) |
R29W |
probably damaging |
Het |
Tnfsf18 |
A |
T |
1: 161,331,158 (GRCm39) |
I103L |
probably benign |
Het |
Vwf |
A |
G |
6: 125,654,879 (GRCm39) |
E2525G |
probably benign |
Het |
|
Other mutations in Cntn6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Cntn6
|
APN |
6 |
104,627,361 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01331:Cntn6
|
APN |
6 |
104,751,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01619:Cntn6
|
APN |
6 |
104,705,335 (GRCm39) |
splice site |
probably benign |
|
IGL02028:Cntn6
|
APN |
6 |
104,836,387 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02557:Cntn6
|
APN |
6 |
104,751,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Cntn6
|
APN |
6 |
104,781,347 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03367:Cntn6
|
APN |
6 |
104,781,299 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03383:Cntn6
|
APN |
6 |
104,753,418 (GRCm39) |
splice site |
probably benign |
|
PIT4366001:Cntn6
|
UTSW |
6 |
104,809,498 (GRCm39) |
missense |
probably benign |
0.05 |
R0490:Cntn6
|
UTSW |
6 |
104,810,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0583:Cntn6
|
UTSW |
6 |
104,753,275 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0636:Cntn6
|
UTSW |
6 |
104,840,109 (GRCm39) |
missense |
probably benign |
0.00 |
R0654:Cntn6
|
UTSW |
6 |
104,753,389 (GRCm39) |
missense |
probably benign |
0.00 |
R0960:Cntn6
|
UTSW |
6 |
104,751,441 (GRCm39) |
missense |
probably benign |
0.01 |
R1241:Cntn6
|
UTSW |
6 |
104,809,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R1385:Cntn6
|
UTSW |
6 |
104,838,861 (GRCm39) |
missense |
probably benign |
0.07 |
R1401:Cntn6
|
UTSW |
6 |
104,781,359 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1478:Cntn6
|
UTSW |
6 |
104,753,389 (GRCm39) |
missense |
probably benign |
0.00 |
R1542:Cntn6
|
UTSW |
6 |
104,825,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Cntn6
|
UTSW |
6 |
104,809,541 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1840:Cntn6
|
UTSW |
6 |
104,751,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R2066:Cntn6
|
UTSW |
6 |
104,838,783 (GRCm39) |
nonsense |
probably null |
|
R2097:Cntn6
|
UTSW |
6 |
104,838,910 (GRCm39) |
missense |
probably damaging |
0.99 |
R2289:Cntn6
|
UTSW |
6 |
104,545,989 (GRCm39) |
start gained |
probably benign |
|
R2429:Cntn6
|
UTSW |
6 |
104,627,526 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2967:Cntn6
|
UTSW |
6 |
104,703,198 (GRCm39) |
missense |
probably benign |
0.04 |
R4009:Cntn6
|
UTSW |
6 |
104,810,783 (GRCm39) |
missense |
probably damaging |
0.98 |
R4476:Cntn6
|
UTSW |
6 |
104,749,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Cntn6
|
UTSW |
6 |
104,705,245 (GRCm39) |
missense |
probably benign |
0.20 |
R4666:Cntn6
|
UTSW |
6 |
104,705,245 (GRCm39) |
missense |
probably benign |
0.20 |
R4701:Cntn6
|
UTSW |
6 |
104,781,321 (GRCm39) |
missense |
probably benign |
0.01 |
R4780:Cntn6
|
UTSW |
6 |
104,822,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R4854:Cntn6
|
UTSW |
6 |
104,836,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4965:Cntn6
|
UTSW |
6 |
104,751,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R5051:Cntn6
|
UTSW |
6 |
104,749,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R5075:Cntn6
|
UTSW |
6 |
104,809,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Cntn6
|
UTSW |
6 |
104,546,074 (GRCm39) |
intron |
probably benign |
|
R5291:Cntn6
|
UTSW |
6 |
104,703,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R5388:Cntn6
|
UTSW |
6 |
104,809,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R5852:Cntn6
|
UTSW |
6 |
104,812,706 (GRCm39) |
missense |
probably damaging |
0.97 |
R5937:Cntn6
|
UTSW |
6 |
104,810,064 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5980:Cntn6
|
UTSW |
6 |
104,825,093 (GRCm39) |
missense |
probably damaging |
0.98 |
R6290:Cntn6
|
UTSW |
6 |
104,744,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R6338:Cntn6
|
UTSW |
6 |
104,703,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6396:Cntn6
|
UTSW |
6 |
104,627,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R6447:Cntn6
|
UTSW |
6 |
104,836,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Cntn6
|
UTSW |
6 |
104,838,907 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6871:Cntn6
|
UTSW |
6 |
104,822,719 (GRCm39) |
frame shift |
probably null |
|
R7012:Cntn6
|
UTSW |
6 |
104,751,441 (GRCm39) |
missense |
probably benign |
0.01 |
R7012:Cntn6
|
UTSW |
6 |
104,703,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R7337:Cntn6
|
UTSW |
6 |
104,627,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R7658:Cntn6
|
UTSW |
6 |
104,627,444 (GRCm39) |
missense |
probably benign |
0.29 |
R8133:Cntn6
|
UTSW |
6 |
104,705,298 (GRCm39) |
missense |
probably benign |
0.19 |
R8463:Cntn6
|
UTSW |
6 |
104,749,580 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8909:Cntn6
|
UTSW |
6 |
104,825,093 (GRCm39) |
missense |
probably benign |
0.05 |
R9232:Cntn6
|
UTSW |
6 |
104,815,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Cntn6
|
UTSW |
6 |
104,809,471 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9454:Cntn6
|
UTSW |
6 |
104,781,308 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9698:Cntn6
|
UTSW |
6 |
104,810,044 (GRCm39) |
nonsense |
probably null |
|
X0020:Cntn6
|
UTSW |
6 |
104,744,845 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Cntn6
|
UTSW |
6 |
104,809,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |