Incidental Mutation 'IGL02557:Cntn6'
| ID |
298341 |
| 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: 0.117)
|
| Stock # |
IGL02557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104751496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 384
(Y384C)
|
| 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: Y384C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: Y384C
| 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 damaging
Transcript: ENSMUST00000161070
AA Change: Y312C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: Y312C
| 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: Y384C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: Y384C
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,670,444 (GRCm39) |
P222L |
probably benign |
Het |
| Alg12 |
T |
A |
15: 88,700,410 (GRCm39) |
K9* |
probably null |
Het |
| Arhgap20 |
T |
C |
9: 51,732,573 (GRCm39) |
V119A |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,857,472 (GRCm39) |
Y178H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,985,993 (GRCm39) |
S243T |
probably benign |
Het |
| Atp13a5 |
A |
C |
16: 29,066,934 (GRCm39) |
F1013V |
probably benign |
Het |
| Atp1a2 |
T |
G |
1: 172,106,218 (GRCm39) |
T865P |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,079,183 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,985 (GRCm39) |
S297P |
unknown |
Het |
| Cdk5 |
A |
T |
5: 24,624,651 (GRCm39) |
S215T |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,879 (GRCm39) |
L798Q |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,527,214 (GRCm39) |
S584P |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,306 (GRCm39) |
V260D |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,790,300 (GRCm39) |
H78Q |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,908,745 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
C |
A |
1: 170,790,891 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
T |
5: 73,255,736 (GRCm39) |
L765Q |
probably damaging |
Het |
| Gas2 |
T |
A |
7: 51,537,681 (GRCm39) |
M2K |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,931,501 (GRCm39) |
K44E |
unknown |
Het |
| Gm42878 |
A |
G |
5: 121,665,194 (GRCm39) |
S205P |
possibly damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,178 (GRCm39) |
S473R |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,046,817 (GRCm39) |
E65G |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,757,392 (GRCm39) |
V375E |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,832,725 (GRCm39) |
C1642* |
probably null |
Het |
| Lsr |
T |
G |
7: 30,657,919 (GRCm39) |
E347A |
possibly damaging |
Het |
| Mapre2 |
C |
A |
18: 23,966,014 (GRCm39) |
T33K |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,085,663 (GRCm39) |
F772I |
probably benign |
Het |
| Myorg |
C |
T |
4: 41,497,900 (GRCm39) |
V577M |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,411,029 (GRCm39) |
V891A |
probably damaging |
Het |
| Neurl4 |
A |
T |
11: 69,797,161 (GRCm39) |
I583F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,460,261 (GRCm39) |
S2163P |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,537 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or10ak8 |
T |
C |
4: 118,774,389 (GRCm39) |
T92A |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,025 (GRCm39) |
I72V |
probably benign |
Het |
| Pak1 |
A |
G |
7: 97,520,794 (GRCm39) |
E151G |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,906,081 (GRCm39) |
N588D |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,371,391 (GRCm39) |
T756A |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,967,952 (GRCm39) |
|
probably null |
Het |
| Seh1l |
T |
C |
18: 67,922,483 (GRCm39) |
S279P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,564,411 (GRCm39) |
M35K |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,180,416 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,473 (GRCm39) |
T124A |
possibly damaging |
Het |
| Trim24 |
A |
C |
6: 37,942,434 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 103,148,418 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,342 (GRCm39) |
|
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 |
|
IGL02420:Cntn6
|
APN |
6 |
104,823,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
Incidental Mutation