Incidental Mutation 'R1478:Cntn6'
ID |
165620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
MMRRC Submission |
039531-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R1478 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104753389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 447
(T447I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089215
AA Change: T447I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092 AA Change: T447I
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: T375I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092 AA Change: T375I
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: T447I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092 AA Change: T447I
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: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,580,287 (GRCm39) |
I204N |
possibly damaging |
Het |
Acaca |
A |
G |
11: 84,263,453 (GRCm39) |
T2025A |
probably damaging |
Het |
B4galt3 |
C |
T |
1: 171,103,938 (GRCm39) |
R170C |
probably benign |
Het |
BC028528 |
T |
C |
3: 95,799,271 (GRCm39) |
|
probably null |
Het |
Ccdc73 |
A |
T |
2: 104,737,955 (GRCm39) |
Q17L |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,745,012 (GRCm39) |
T50A |
possibly damaging |
Het |
Ccdc83 |
T |
C |
7: 89,908,677 (GRCm39) |
D19G |
probably damaging |
Het |
Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,722,767 (GRCm39) |
V494A |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,959,769 (GRCm39) |
F663L |
probably damaging |
Het |
Chn2 |
A |
T |
6: 54,270,065 (GRCm39) |
E319V |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,460,295 (GRCm39) |
V679A |
probably damaging |
Het |
Cyp3a11 |
G |
T |
5: 145,795,581 (GRCm39) |
L457I |
probably benign |
Het |
Dera |
T |
A |
6: 137,807,193 (GRCm39) |
S214T |
possibly damaging |
Het |
Dmtf1 |
A |
G |
5: 9,171,404 (GRCm39) |
V501A |
possibly damaging |
Het |
Dnpep |
A |
G |
1: 75,292,671 (GRCm39) |
V114A |
probably damaging |
Het |
Dscam |
C |
T |
16: 96,592,110 (GRCm39) |
V722M |
probably benign |
Het |
Dsp |
A |
G |
13: 38,365,114 (GRCm39) |
N499S |
probably damaging |
Het |
Ecd |
A |
T |
14: 20,396,725 (GRCm39) |
Y53* |
probably null |
Het |
Esyt3 |
T |
C |
9: 99,200,119 (GRCm39) |
T692A |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,478,659 (GRCm39) |
N2545K |
probably damaging |
Het |
Fndc3a |
A |
G |
14: 72,795,072 (GRCm39) |
|
probably null |
Het |
Fscn3 |
A |
G |
6: 28,430,567 (GRCm39) |
M246V |
probably benign |
Het |
Gde1 |
G |
T |
7: 118,291,007 (GRCm39) |
T106K |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,434 (GRCm39) |
I16T |
possibly damaging |
Het |
Hacd4 |
A |
T |
4: 88,341,260 (GRCm39) |
M168K |
probably damaging |
Het |
Hmx3 |
A |
G |
7: 131,145,826 (GRCm39) |
E178G |
probably damaging |
Het |
Htt |
A |
G |
5: 34,961,171 (GRCm39) |
Y266C |
probably damaging |
Het |
Jkampl |
A |
T |
6: 73,446,039 (GRCm39) |
L170Q |
probably damaging |
Het |
Kif27 |
G |
T |
13: 58,451,359 (GRCm39) |
R990S |
probably damaging |
Het |
Krtap22-2 |
A |
T |
16: 88,807,534 (GRCm39) |
Y21* |
probably null |
Het |
Lrrc41 |
T |
A |
4: 115,952,405 (GRCm39) |
L661* |
probably null |
Het |
Lrrc63 |
T |
C |
14: 75,363,424 (GRCm39) |
T236A |
probably benign |
Het |
Mmp13 |
T |
C |
9: 7,272,892 (GRCm39) |
L84P |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,183,551 (GRCm39) |
I754T |
probably benign |
Het |
Neb |
A |
C |
2: 52,065,619 (GRCm39) |
D5961E |
probably benign |
Het |
Nlrx1 |
T |
C |
9: 44,175,374 (GRCm39) |
H134R |
probably benign |
Het |
Npepps |
A |
T |
11: 97,117,673 (GRCm39) |
M542K |
probably benign |
Het |
Nup160 |
C |
T |
2: 90,509,743 (GRCm39) |
|
probably benign |
Het |
Or3a1c |
T |
A |
11: 74,045,963 (GRCm39) |
|
probably null |
Het |
Or8g33 |
T |
A |
9: 39,337,888 (GRCm39) |
T160S |
possibly damaging |
Het |
Pikfyve |
T |
C |
1: 65,302,136 (GRCm39) |
|
probably null |
Het |
Ppp6r1 |
A |
T |
7: 4,643,377 (GRCm39) |
|
probably null |
Het |
Prss33 |
A |
G |
17: 24,054,072 (GRCm39) |
W45R |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,069,302 (GRCm39) |
Y980* |
probably null |
Het |
Qrich1 |
T |
C |
9: 108,436,531 (GRCm39) |
V743A |
probably benign |
Het |
Rev3l |
G |
A |
10: 39,659,329 (GRCm39) |
|
probably null |
Het |
Samd9l |
A |
T |
6: 3,376,369 (GRCm39) |
N297K |
probably benign |
Het |
Sap130 |
A |
G |
18: 31,813,527 (GRCm39) |
H528R |
possibly damaging |
Het |
Slc9b2 |
T |
C |
3: 135,031,863 (GRCm39) |
V241A |
probably benign |
Het |
Snx14 |
A |
T |
9: 88,276,581 (GRCm39) |
V577E |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,876 (GRCm39) |
S507P |
probably benign |
Het |
Stat2 |
A |
G |
10: 128,117,969 (GRCm39) |
|
probably null |
Het |
Susd5 |
T |
C |
9: 113,925,752 (GRCm39) |
F545S |
probably benign |
Het |
Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
Tnnt2 |
A |
G |
1: 135,775,764 (GRCm39) |
T107A |
probably benign |
Het |
Trappc6b |
T |
A |
12: 59,094,953 (GRCm39) |
I41F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,682,417 (GRCm39) |
|
probably benign |
Het |
Vmn1r88 |
A |
C |
7: 12,911,878 (GRCm39) |
D78A |
probably damaging |
Het |
Xpc |
C |
T |
6: 91,485,510 (GRCm39) |
D122N |
possibly damaging |
Het |
Xpo1 |
C |
T |
11: 23,241,623 (GRCm39) |
A890V |
probably damaging |
Het |
Zfp493 |
A |
G |
13: 67,934,680 (GRCm39) |
H211R |
probably damaging |
Het |
Zfp958 |
A |
T |
8: 4,679,190 (GRCm39) |
H405L |
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 |
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'- AGGAACATAACCACGTCTGACAAATGG -3'
(R):5'- GAAAAGTTTTGGCACCTTGGGAGTACC -3'
Sequencing Primer
(F):5'- tgtgtgtgtgtATTTAAACTGGC -3'
(R):5'- GGAGTACCCCACAGGAAGTTTATTAC -3'
|
Posted On |
2014-03-28 |