Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01619:Cntn6'

92534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn6

Ensembl Gene

ENSMUSG00000030092

Gene Name

contactin 6

Synonyms

NB-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL01619

Quality Score

Status

Chromosome

Chromosomal Location

104469751-104840367 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 104705335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000162872]

AlphaFold

Q9JMB8

Predicted Effect

probably benign
Transcript: ENSMUST00000089215

SMART Domains

Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092

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

SMART Domains

Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092

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

SMART Domains

Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd46	T	C	15: 36,486,113 (GRCm39)	T47A	possibly damaging	Het
Asxl3	T	G	18: 22,656,385 (GRCm39)	V1465G	probably damaging	Het
Celsr3	A	T	9: 108,711,756 (GRCm39)	D1657V	probably damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cimip2b	G	A	4: 43,427,814 (GRCm39)	T170I	possibly damaging	Het
Def6	C	T	17: 28,426,838 (GRCm39)	L8F	probably damaging	Het
Dnah9	T	A	11: 65,722,441 (GRCm39)	K1940*	probably null	Het
Dock10	A	G	1: 80,612,015 (GRCm39)		probably benign	Het
Fam72a	A	G	1: 131,461,650 (GRCm39)	I112V	probably benign	Het
Fgl1	A	T	8: 41,650,008 (GRCm39)	W258R	probably damaging	Het
Ints6l	G	T	X: 55,542,104 (GRCm39)		probably benign	Het
Lifr	A	T	15: 7,220,643 (GRCm39)	N1091I	probably damaging	Het
Mga	T	C	2: 119,762,309 (GRCm39)	I1100T	possibly damaging	Het
Mrpl40	T	A	16: 18,691,294 (GRCm39)	M139L	probably benign	Het
Myom1	T	C	17: 71,351,471 (GRCm39)		probably benign	Het
Or2m12	T	A	16: 19,104,909 (GRCm39)	T195S	probably damaging	Het
Pcdhb5	T	C	18: 37,455,992 (GRCm39)	F791L	probably damaging	Het
Prss29	T	C	17: 25,540,113 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,299,900 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,439,108 (GRCm39)	K178R	probably damaging	Het
Shtn1	A	G	19: 59,016,601 (GRCm39)	S233P	probably damaging	Het
Smpd1	G	A	7: 105,204,549 (GRCm39)	V143M	possibly damaging	Het
Terb1	G	A	8: 105,199,646 (GRCm39)	H433Y	probably benign	Het
Traf6	C	T	2: 101,520,443 (GRCm39)	Q164*	probably null	Het
Trip12	C	A	1: 84,792,631 (GRCm39)	R4L	probably damaging	Het
Ttn	G	A	2: 76,693,879 (GRCm39)	P208S	possibly damaging	Het
Ube2c	T	C	2: 164,613,232 (GRCm39)	I50T	probably damaging	Het
Uggt1	T	C	1: 36,200,775 (GRCm39)	D1174G	probably damaging	Het
Vmn2r121	T	G	X: 123,041,997 (GRCm39)	M387L	probably benign	Het
Vmn2r18	T	A	5: 151,510,229 (GRCm39)	N48I	probably benign	Het
Zc3h15	T	C	2: 83,490,517 (GRCm39)	L217P	probably damaging	Het
Zyg11a	T	A	4: 108,062,414 (GRCm39)	E129V	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
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
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

Posted On

2013-12-09