Incidental Mutation 'R0583:Cntn6'
ID |
56503 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntn6
|
Ensembl Gene |
ENSMUSG00000030092 |
Gene Name |
contactin 6 |
Synonyms |
NB-3 |
MMRRC Submission |
038773-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R0583 (G1)
|
Quality Score |
120 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
104469751-104840367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104753275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 337
(D337G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089215]
[ENSMUST00000161070]
[ENSMUST00000162872]
|
AlphaFold |
Q9JMB8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089215
AA Change: D409G
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000086623 Gene: ENSMUSG00000030092 AA Change: D409G
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 |
possibly damaging
Transcript: ENSMUST00000161070
AA Change: D337G
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124714 Gene: ENSMUSG00000030092 AA Change: D337G
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 |
possibly damaging
Transcript: ENSMUST00000162872
AA Change: D409G
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124025 Gene: ENSMUSG00000030092 AA Change: D409G
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: 98.8%
- 10x: 97.1%
- 20x: 93.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,164,926 (GRCm39) |
S483P |
probably benign |
Het |
5730480H06Rik |
A |
G |
5: 48,537,470 (GRCm39) |
H169R |
probably damaging |
Het |
Actn1 |
T |
A |
12: 80,245,803 (GRCm39) |
I127F |
probably damaging |
Het |
Cadm3 |
T |
G |
1: 173,168,738 (GRCm39) |
T277P |
probably benign |
Het |
Cast |
T |
C |
13: 74,861,797 (GRCm39) |
T629A |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,526,486 (GRCm39) |
C201F |
probably benign |
Het |
Ccdc154 |
T |
A |
17: 25,387,398 (GRCm39) |
D375E |
possibly damaging |
Het |
Cdk6 |
A |
G |
5: 3,523,183 (GRCm39) |
D201G |
probably damaging |
Het |
Cep95 |
T |
C |
11: 106,705,449 (GRCm39) |
V478A |
probably benign |
Het |
Ciita |
T |
C |
16: 10,341,668 (GRCm39) |
|
probably null |
Het |
Clec4e |
A |
G |
6: 123,260,653 (GRCm39) |
F135S |
probably damaging |
Het |
Crlf3 |
A |
T |
11: 79,950,107 (GRCm39) |
H174Q |
probably damaging |
Het |
Cyb5r1 |
T |
A |
1: 134,335,339 (GRCm39) |
F93I |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,552,374 (GRCm39) |
I271T |
probably benign |
Het |
Duxf1 |
G |
A |
10: 58,059,210 (GRCm39) |
L515F |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
Fhad1 |
C |
T |
4: 141,631,301 (GRCm39) |
M1297I |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,029,095 (GRCm39) |
V244A |
possibly damaging |
Het |
Ikzf5 |
A |
G |
7: 130,993,514 (GRCm39) |
|
probably null |
Het |
Ilvbl |
T |
A |
10: 78,419,101 (GRCm39) |
V450E |
probably damaging |
Het |
Kcns3 |
T |
G |
12: 11,141,479 (GRCm39) |
N407H |
probably damaging |
Het |
Klhl11 |
T |
C |
11: 100,355,150 (GRCm39) |
K224E |
possibly damaging |
Het |
Klra17 |
T |
A |
6: 129,845,656 (GRCm39) |
D186V |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,389,263 (GRCm39) |
D2054G |
probably benign |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Mrgbp |
A |
G |
2: 180,226,239 (GRCm39) |
N104S |
probably benign |
Het |
Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
Muc5ac |
C |
A |
7: 141,361,345 (GRCm39) |
T1552N |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,410,435 (GRCm39) |
Y1269* |
probably null |
Het |
Myef2 |
T |
C |
2: 124,939,901 (GRCm39) |
|
probably null |
Het |
Myg1 |
C |
T |
15: 102,246,225 (GRCm39) |
Q367* |
probably null |
Het |
Nalcn |
T |
C |
14: 123,531,755 (GRCm39) |
N1365S |
possibly damaging |
Het |
Nfu1 |
T |
C |
6: 86,986,934 (GRCm39) |
C18R |
probably benign |
Het |
Nkx2-6 |
A |
T |
14: 69,412,228 (GRCm39) |
Q132L |
probably damaging |
Het |
Or10a3b |
C |
T |
7: 108,444,621 (GRCm39) |
A199T |
possibly damaging |
Het |
Or8k38 |
T |
A |
2: 86,488,704 (GRCm39) |
I33F |
probably benign |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Prh1 |
A |
T |
6: 132,548,796 (GRCm39) |
Q101L |
unknown |
Het |
Ribc2 |
A |
T |
15: 85,017,115 (GRCm39) |
|
probably null |
Het |
Rnf19a |
C |
A |
15: 36,253,151 (GRCm39) |
R396L |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,452,923 (GRCm39) |
I105T |
probably damaging |
Het |
Sec24b |
G |
T |
3: 129,834,960 (GRCm39) |
Y79* |
probably null |
Het |
Tatdn2 |
A |
G |
6: 113,679,486 (GRCm39) |
E277G |
possibly damaging |
Het |
Tex10 |
A |
C |
4: 48,451,952 (GRCm39) |
F725V |
probably damaging |
Het |
Themis3 |
T |
C |
17: 66,866,748 (GRCm39) |
D164G |
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,194,732 (GRCm39) |
W220R |
probably damaging |
Het |
Usp33 |
C |
A |
3: 152,073,891 (GRCm39) |
R246S |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,897,043 (GRCm39) |
V130E |
probably benign |
Het |
Vmn2r112 |
C |
T |
17: 22,837,930 (GRCm39) |
P797L |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,076,262 (GRCm39) |
V340A |
probably damaging |
Het |
Zfta |
A |
G |
19: 7,397,639 (GRCm39) |
D62G |
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 |
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 |
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'- AAGTTTTGGCACCTTGGGAGTACC -3'
Sequencing Primer
(F):5'- CTGTAGACGACACATATCATTTCC -3'
(R):5'- GGAGTACCCCACAGGAAGTTTATTAC -3'
|
Posted On |
2013-07-11 |