Incidental Mutation 'R9698:Cntn6'
| ID |
729430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn6
|
| Ensembl Gene |
ENSMUSG00000030092 |
| Gene Name |
contactin 6 |
| Synonyms |
NB-3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 104810044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 575
(Y575*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
| AlphaFold |
Q9JMB8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089215
AA Change: Y575*
|
| SMART Domains |
Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: Y575*
| 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 null
Transcript: ENSMUST00000161070
AA Change: Y503*
|
| SMART Domains |
Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: Y503*
| 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 null
Transcript: ENSMUST00000162872
AA Change: Y575*
|
| SMART Domains |
Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: Y575*
| 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: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,571,757 (GRCm39) |
M1124V |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,784,121 (GRCm39) |
C1578R |
probably damaging |
Het |
| Adprs |
T |
C |
4: 126,210,514 (GRCm39) |
D322G |
probably damaging |
Het |
| Anks3 |
T |
C |
16: 4,766,113 (GRCm39) |
E327G |
probably benign |
Het |
| Aspm |
T |
G |
1: 139,389,646 (GRCm39) |
N689K |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,993,170 (GRCm39) |
I861F |
probably damaging |
Het |
| Camk2d |
C |
T |
3: 126,633,833 (GRCm39) |
H452Y |
possibly damaging |
Het |
| Cerk |
T |
C |
15: 86,026,995 (GRCm39) |
K477E |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,838,373 (GRCm39) |
E141G |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,985,396 (GRCm39) |
S1224P |
probably damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,508 (GRCm39) |
I186T |
possibly damaging |
Het |
| Erich2 |
A |
G |
2: 70,371,055 (GRCm39) |
D431G |
unknown |
Het |
| Fmn2 |
T |
A |
1: 174,364,739 (GRCm39) |
C559S |
unknown |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| Hoxa13 |
T |
C |
6: 52,236,024 (GRCm39) |
T174A |
probably benign |
Het |
| Hrh3 |
A |
G |
2: 179,743,206 (GRCm39) |
S141P |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,233,094 (GRCm39) |
S1111P |
unknown |
Het |
| Il12rb1 |
G |
T |
8: 71,263,848 (GRCm39) |
Q136H |
possibly damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,405 (GRCm39) |
S223P |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,398,723 (GRCm39) |
N705K |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,967,077 (GRCm39) |
V345L |
probably benign |
Het |
| Mcub |
C |
T |
3: 129,710,668 (GRCm39) |
D255N |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mroh3 |
T |
C |
1: 136,114,452 (GRCm39) |
T625A |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,720,681 (GRCm39) |
Y1152C |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,643,688 (GRCm39) |
Y378C |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,678,442 (GRCm39) |
L226P |
probably damaging |
Het |
| Or2m13 |
A |
T |
16: 19,226,342 (GRCm39) |
C141* |
probably null |
Het |
| Or55b4 |
G |
A |
7: 102,133,377 (GRCm39) |
Q317* |
probably null |
Het |
| Pcm1 |
T |
C |
8: 41,723,541 (GRCm39) |
L342P |
possibly damaging |
Het |
| Pdlim1 |
T |
A |
19: 40,218,959 (GRCm39) |
D224V |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,925,251 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,744,615 (GRCm39) |
I630V |
probably damaging |
Het |
| Ppil4 |
A |
G |
10: 7,683,033 (GRCm39) |
|
probably null |
Het |
| Ptpru |
A |
T |
4: 131,547,531 (GRCm39) |
I174K |
probably benign |
Het |
| Rab11fip4 |
T |
A |
11: 79,583,592 (GRCm39) |
L612Q |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,618,662 (GRCm39) |
L207P |
probably damaging |
Het |
| Reg3g |
A |
C |
6: 78,444,805 (GRCm39) |
S58A |
probably benign |
Het |
| Ric8b |
T |
C |
10: 84,783,361 (GRCm39) |
L73P |
probably damaging |
Het |
| Rmdn2 |
A |
G |
17: 79,957,729 (GRCm39) |
|
probably null |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc46a2 |
A |
G |
4: 59,912,582 (GRCm39) |
S397P |
probably damaging |
Het |
| Smpd3 |
A |
T |
8: 106,992,296 (GRCm39) |
S86T |
possibly damaging |
Het |
| Sumf1 |
T |
C |
6: 108,131,923 (GRCm39) |
H198R |
probably benign |
Het |
| Tagap1 |
C |
G |
17: 7,228,477 (GRCm39) |
D18H |
probably damaging |
Het |
| Tcf23 |
C |
T |
5: 31,126,225 (GRCm39) |
R35C |
probably damaging |
Het |
| Tdpoz8 |
T |
A |
3: 92,981,727 (GRCm39) |
D174E |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,689,246 (GRCm39) |
L2114F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,773,718 (GRCm39) |
I2301K |
unknown |
Het |
| Ubr4 |
A |
G |
4: 139,167,975 (GRCm39) |
E1496G |
|
Het |
| Usp48 |
T |
C |
4: 137,361,202 (GRCm39) |
V756A |
possibly damaging |
Het |
| Zfp626 |
A |
G |
7: 27,518,440 (GRCm39) |
I474V |
possibly damaging |
Het |
| Zfpm1 |
T |
A |
8: 123,063,868 (GRCm39) |
S976T |
unknown |
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 |
|
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 |
|
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'- ACTGGTTTTCTGGATGCAATTAGAG -3'
(R):5'- GGAACTGGAACTATTTGCTAAGCAC -3'
Sequencing Primer
(F):5'- TTCTGGATGCAATTAGAGTAAAAGG -3'
(R):5'- GCGAAAAAGTTATGGTTTTCTCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation