Incidental Mutation 'R8909:Cntn6'
| ID |
678505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| MMRRC Submission |
068700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8909 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104825093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 878
(S878T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
| AlphaFold |
Q9JMB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089215
AA Change: S878T
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: S878T
| 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: S806T
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: S806T
| 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: S878T
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: S878T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
G |
T |
13: 63,388,111 (GRCm39) |
R698L |
possibly damaging |
Het |
| Btnl10 |
T |
C |
11: 58,813,198 (GRCm39) |
C276R |
probably benign |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cavin4 |
G |
A |
4: 48,672,421 (GRCm39) |
G289R |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,848,610 (GRCm39) |
F430S |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,014,086 (GRCm39) |
I1246T |
possibly damaging |
Het |
| Chd8 |
C |
T |
14: 52,450,389 (GRCm39) |
V1490M |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,195 (GRCm39) |
N137S |
probably benign |
Het |
| Cryga |
G |
T |
1: 65,142,173 (GRCm39) |
S73R |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
| Dnai4 |
T |
G |
4: 102,944,607 (GRCm39) |
E248A |
possibly damaging |
Het |
| Duox2 |
A |
G |
2: 122,126,862 (GRCm39) |
S218P |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,192,508 (GRCm39) |
Q1491L |
possibly damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,444,159 (GRCm39) |
|
probably null |
Het |
| Helz |
A |
G |
11: 107,556,834 (GRCm39) |
D1284G |
possibly damaging |
Het |
| Iqsec3 |
G |
A |
6: 121,390,118 (GRCm39) |
A451V |
unknown |
Het |
| Kat6b |
A |
G |
14: 21,719,214 (GRCm39) |
T1189A |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,079,736 (GRCm39) |
F1203Y |
|
Het |
| Lingo2 |
A |
G |
4: 35,708,349 (GRCm39) |
S544P |
probably damaging |
Het |
| Llcfc1 |
T |
C |
6: 41,661,525 (GRCm39) |
V25A |
probably benign |
Het |
| Map1a |
A |
C |
2: 121,129,391 (GRCm39) |
H143P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,169,233 (GRCm39) |
V1468A |
probably benign |
Het |
| Meis3 |
T |
A |
7: 15,919,385 (GRCm39) |
M367K |
possibly damaging |
Het |
| Myo3b |
G |
A |
2: 70,083,440 (GRCm39) |
A698T |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,970,833 (GRCm39) |
D272V |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,718,032 (GRCm39) |
S69P |
probably damaging |
Het |
| Or56a5 |
C |
T |
7: 104,793,249 (GRCm39) |
V84I |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,888 (GRCm39) |
M156I |
probably benign |
Het |
| Or8k27 |
C |
T |
2: 86,276,082 (GRCm39) |
M81I |
possibly damaging |
Het |
| Os9 |
C |
A |
10: 126,956,825 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,184,758 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Plod1 |
T |
A |
4: 148,011,563 (GRCm39) |
K221* |
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,509,461 (GRCm39) |
T795A |
probably benign |
Het |
| Pramel15 |
T |
C |
4: 144,103,553 (GRCm39) |
Q191R |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,723 (GRCm39) |
E246G |
probably damaging |
Het |
| Psmb7 |
A |
G |
2: 38,503,481 (GRCm39) |
M178T |
probably damaging |
Het |
| Rbm39 |
C |
T |
2: 156,019,697 (GRCm39) |
|
probably benign |
Het |
| Saa1 |
T |
C |
7: 46,390,773 (GRCm39) |
N46S |
probably benign |
Het |
| Samd12 |
A |
G |
15: 53,521,853 (GRCm39) |
L119P |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,094 (GRCm39) |
E151G |
unknown |
Het |
| Serpina1a |
T |
C |
12: 103,820,938 (GRCm39) |
K370E |
probably damaging |
Het |
| Slc49a3 |
C |
T |
5: 108,592,432 (GRCm39) |
V253I |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,762,131 (GRCm39) |
S681I |
|
Het |
| Ulk2 |
C |
T |
11: 61,690,380 (GRCm39) |
G636R |
probably benign |
Het |
| V1ra8 |
T |
C |
6: 90,179,938 (GRCm39) |
L47P |
possibly damaging |
Het |
| Wasf3 |
T |
C |
5: 146,392,410 (GRCm39) |
L160P |
|
Het |
| Zbtb34 |
A |
C |
2: 33,301,701 (GRCm39) |
V280G |
possibly damaging |
Het |
| Zfp646 |
T |
C |
7: 127,478,515 (GRCm39) |
Y231H |
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 |
|
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 |
|
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'- GTAACTTAAAATTGCCCTGGTTGTC -3'
(R):5'- CCAAGTAGATGGAACCTTGTGG -3'
Sequencing Primer
(F):5'- AAAATTGCCCTGGTTGTCTTTTATTC -3'
(R):5'- CCTTGTGGTAGGAAGAATGAATGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation