Incidental Mutation 'R0654:Cntn6'
| ID |
62430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
174 |
|
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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACATAACCACGTCTGACAAATGG -3'
(R):5'- GAAAAGTTTTGGCACCTTGGGAGTACC -3'
Sequencing Primer
(F):5'- tgtgtgtgtgtATTTAAACTGGC -3'
(R):5'- GGAGTACCCCACAGGAAGTTTATTAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation