Incidental Mutation 'R8133:Cntn6'
| ID |
632114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| MMRRC Submission |
067561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R8133 (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 104705298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 244
(S244T)
|
| 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: S244T
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: S244T
| 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: S172T
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: S172T
| 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: S244T
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: S244T
| 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 |
0.0877 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,018,289 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Adam15 |
C |
T |
3: 89,254,513 (GRCm39) |
R123Q |
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,024,489 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
T |
C |
13: 97,003,003 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
C |
A |
10: 18,486,951 (GRCm39) |
|
probably null |
Het |
| Atp6v0c |
C |
T |
17: 24,383,553 (GRCm39) |
S98N |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,824,309 (GRCm39) |
N1417S |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,438,045 (GRCm39) |
S96P |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,264,304 (GRCm39) |
T85A |
probably benign |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,691,562 (GRCm39) |
D53G |
probably benign |
Het |
| Cubn |
G |
T |
2: 13,393,659 (GRCm39) |
D1447E |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,914,872 (GRCm39) |
E102G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,557,256 (GRCm39) |
V399E |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,082 (GRCm39) |
E1423G |
possibly damaging |
Het |
| Glis3 |
A |
G |
19: 28,327,406 (GRCm39) |
S669P |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,660,710 (GRCm39) |
T742A |
possibly damaging |
Het |
| Igdcc4 |
C |
A |
9: 65,039,023 (GRCm39) |
T890N |
possibly damaging |
Het |
| Jcad |
C |
T |
18: 4,649,384 (GRCm39) |
T85I |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,762,823 (GRCm39) |
K316E |
probably damaging |
Het |
| Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,719,934 (GRCm39) |
N289D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,061,487 (GRCm39) |
M829V |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,741,458 (GRCm39) |
R495H |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,169,461 (GRCm39) |
Y228H |
probably benign |
Het |
| Nrg2 |
T |
A |
18: 36,165,430 (GRCm39) |
E394V |
probably benign |
Het |
| Oas1e |
T |
C |
5: 120,926,060 (GRCm39) |
N336S |
probably benign |
Het |
| Obi1 |
G |
T |
14: 104,716,681 (GRCm39) |
S564* |
probably null |
Het |
| Or51i2 |
G |
T |
7: 103,689,122 (GRCm39) |
G40W |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,192,065 (GRCm39) |
H307Q |
probably benign |
Het |
| Or5b95 |
T |
G |
19: 12,657,844 (GRCm39) |
V124G |
probably damaging |
Het |
| Pax4 |
T |
C |
6: 28,442,513 (GRCm39) |
D305G |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,185 (GRCm39) |
N48K |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,663 (GRCm39) |
E730* |
probably null |
Het |
| Pde4a |
A |
T |
9: 21,102,673 (GRCm39) |
D119V |
possibly damaging |
Het |
| Pgam1 |
T |
C |
19: 41,904,149 (GRCm39) |
V82A |
probably benign |
Het |
| Phf11a |
C |
T |
14: 59,521,773 (GRCm39) |
G133S |
probably damaging |
Het |
| Phlpp1 |
TGCGCGCGCGC |
TGCGCGCGC |
1: 106,100,522 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
T |
C |
5: 128,826,914 (GRCm39) |
V558A |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,202,319 (GRCm39) |
V59A |
unknown |
Het |
| Psd4 |
T |
A |
2: 24,286,701 (GRCm39) |
S353T |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,618,584 (GRCm39) |
L3877H |
probably damaging |
Het |
| S100a2 |
T |
C |
3: 90,498,616 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,048 (GRCm39) |
S1831T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,124,481 (GRCm39) |
C664R |
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 |
|
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'- CAATGTGTCTGGACTCATGAGAG -3'
(R):5'- ATGCCCCGCACTTGAAATC -3'
Sequencing Primer
(F):5'- GAAGCATGCATCCATCTCATTATTGG -3'
(R):5'- GCCCCGCACTTGAAATCTGTTTAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation