Incidental Mutation 'R0960:Cntn6'
ID |
81823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
MMRRC Submission |
039089-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R0960 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104751441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 294
(I294V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089215
AA Change: I366V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092 AA Change: I366V
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 benign
Transcript: ENSMUST00000161070
AA Change: I294V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092 AA Change: I294V
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 benign
Transcript: ENSMUST00000162872
AA Change: I366V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092 AA Change: I366V
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 |
0.0597 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
98% (49/50) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
Aamp |
T |
C |
1: 74,320,304 (GRCm39) |
T341A |
possibly damaging |
Het |
Adam26a |
A |
T |
8: 44,021,800 (GRCm39) |
H563Q |
probably damaging |
Het |
Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,471,303 (GRCm39) |
|
probably benign |
Het |
Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
Tbc1d17 |
C |
T |
7: 44,497,852 (GRCm39) |
|
probably benign |
Het |
Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGAAGGCTGCTGCTTCTCTAAC -3'
(R):5'- GGTTTGTACTCCAAGACCACCCAC -3'
Sequencing Primer
(F):5'- CAAGCAACACATTGTGAATTGGTC -3'
(R):5'- GTTCACAGGAAAATATCAGGTTCAG -3'
|
Posted On |
2013-11-08 |