Incidental Mutation 'R1241:Cntn6'
ID |
151993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
MMRRC Submission |
039308-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R1241 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104809470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 502
(I502F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089215
AA Change: I502F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092 AA Change: I502F
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 |
possibly damaging
Transcript: ENSMUST00000161070
AA Change: I430F
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092 AA Change: I430F
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 damaging
Transcript: ENSMUST00000162872
AA Change: I502F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092 AA Change: I502F
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 |
|
Meta Mutation Damage Score |
0.4303 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
9030619P08Rik |
A |
C |
15: 75,301,846 (GRCm39) |
|
noncoding transcript |
Het |
Aldh1l2 |
T |
C |
10: 83,331,889 (GRCm39) |
I639V |
probably benign |
Het |
Ambra1 |
T |
C |
2: 91,601,241 (GRCm39) |
|
probably benign |
Het |
Ap5z1 |
T |
C |
5: 142,455,869 (GRCm39) |
Y299H |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,733,526 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,832,689 (GRCm39) |
V2574I |
probably benign |
Het |
Atxn1l |
T |
A |
8: 110,459,612 (GRCm39) |
T217S |
probably benign |
Het |
Ccdc85a |
A |
G |
11: 28,346,150 (GRCm39) |
S89P |
probably benign |
Het |
Ccn5 |
T |
A |
2: 163,670,997 (GRCm39) |
M168K |
unknown |
Het |
Cd209e |
A |
T |
8: 3,899,124 (GRCm39) |
I196N |
probably damaging |
Het |
Cdhr4 |
A |
G |
9: 107,872,495 (GRCm39) |
S247G |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,193,018 (GRCm39) |
Y233C |
probably damaging |
Het |
Ctsb |
C |
A |
14: 63,376,553 (GRCm39) |
T261N |
probably benign |
Het |
Ctsk |
T |
C |
3: 95,408,185 (GRCm39) |
F14L |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,407,385 (GRCm39) |
I2110V |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,969,988 (GRCm39) |
M155T |
probably benign |
Het |
Echdc3 |
T |
C |
2: 6,217,611 (GRCm39) |
D54G |
probably benign |
Het |
Egln3 |
G |
A |
12: 54,228,479 (GRCm39) |
T209I |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,214,447 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
A |
T |
4: 62,222,846 (GRCm39) |
S1018T |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,896,503 (GRCm38) |
I898T |
probably benign |
Het |
Flt1 |
T |
A |
5: 147,536,456 (GRCm39) |
Y795F |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,267,614 (GRCm39) |
E417G |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,268 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
T |
C |
9: 69,941,615 (GRCm39) |
I318V |
probably benign |
Het |
Gm11437 |
T |
A |
11: 84,055,454 (GRCm39) |
H54L |
possibly damaging |
Het |
Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
Jarid2 |
G |
A |
13: 45,038,368 (GRCm39) |
|
probably benign |
Het |
Kif5b |
A |
T |
18: 6,214,044 (GRCm39) |
V653E |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,274,365 (GRCm39) |
V2113A |
probably damaging |
Het |
Knl1 |
C |
T |
2: 118,903,054 (GRCm39) |
T1585I |
probably benign |
Het |
Mlxipl |
T |
A |
5: 135,161,572 (GRCm39) |
M497K |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,710,935 (GRCm39) |
W210R |
probably damaging |
Het |
Mrps22 |
A |
G |
9: 98,476,748 (GRCm39) |
V207A |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,390,256 (GRCm39) |
I2111V |
possibly damaging |
Het |
Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
Nbea |
T |
A |
3: 55,965,461 (GRCm39) |
H484L |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nlrp2 |
T |
A |
7: 5,331,430 (GRCm39) |
D322V |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,636,947 (GRCm39) |
C1057R |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,142,394 (GRCm39) |
S62P |
probably damaging |
Het |
Nudt18 |
A |
G |
14: 70,816,867 (GRCm39) |
H157R |
probably benign |
Het |
Or10s1 |
C |
A |
9: 39,986,192 (GRCm39) |
N200K |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,904 (GRCm39) |
T254S |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,857,002 (GRCm39) |
T435A |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,427,540 (GRCm39) |
T312A |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,061,720 (GRCm39) |
S429P |
probably damaging |
Het |
Suclg2 |
A |
G |
6: 95,474,563 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,279 (GRCm39) |
E573V |
unknown |
Het |
Tdrd1 |
A |
G |
19: 56,850,192 (GRCm39) |
T985A |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,369,698 (GRCm39) |
I357T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,626,008 (GRCm39) |
E13271G |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,969,857 (GRCm39) |
E661G |
probably damaging |
Het |
Vasp |
T |
G |
7: 18,992,958 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,775,503 (GRCm39) |
Y75N |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,440,770 (GRCm39) |
N363Y |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,476 (GRCm39) |
N426K |
probably benign |
Het |
Znhit2 |
C |
A |
19: 6,112,288 (GRCm39) |
N344K |
probably damaging |
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 |
IGL02420:Cntn6
|
APN |
6 |
104,823,103 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-29 |