Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02420:Cntn6'

292651

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: 0.145) question?

Stock #

IGL02420

Quality Score

Status

Chromosome

Chromosomal Location

104492790-104863406 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 104846142 bp (GRCm38)

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 null
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 null
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 null
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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,880,494	N136S	probably damaging	Het
3110062M04Rik	T	C	6: 34,874,469	Y150C	probably damaging	Het
Adcy8	A	G	15: 64,787,454	S496P	probably damaging	Het
Agbl3	T	A	6: 34,785,307	S81T	possibly damaging	Het
Apobec1	A	T	6: 122,581,572	Y75N	probably benign	Het
Asic2	A	G	11: 80,881,653	L517P	probably benign	Het
Atp8a1	A	G	5: 67,682,783	S752P	probably damaging	Het
Blm	T	C	7: 80,496,006	Y775C	probably damaging	Het
C1qtnf5	T	C	9: 44,108,604	I175T	probably benign	Het
Ccdc81	G	A	7: 89,875,738	T545I	probably benign	Het
Ccdc88b	T	C	19: 6,856,949	E174G	probably damaging	Het
Chl1	G	A	6: 103,715,369	V1066M	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cysrt1	T	C	2: 25,239,348	I51V	probably benign	Het
Dnah7a	T	C	1: 53,686,543	N69S	probably benign	Het
Fam83d	T	C	2: 158,785,735	L448P	probably benign	Het
Gm9631	G	A	11: 121,943,652			Het
Hmcn1	T	C	1: 150,722,424	Y1709C	probably damaging	Het
Inppl1	G	A	7: 101,832,319		probably benign	Het
Iqcc	T	C	4: 129,616,955	T256A	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Lyz1	A	T	10: 117,288,630	C134S	probably damaging	Het
Mpzl3	T	C	9: 45,066,517	I141T	possibly damaging	Het
Mterf1a	T	C	5: 3,891,047	N274D	probably damaging	Het
Myo18a	T	A	11: 77,818,693	V543D	possibly damaging	Het
Myo18b	A	T	5: 112,827,986	D1332E	possibly damaging	Het
Olfr458	A	G	6: 42,460,176	V281A	probably benign	Het
Pcdh15	A	T	10: 74,303,106	D333V	probably damaging	Het
Plekha7	A	G	7: 116,158,234	Y494H	probably damaging	Het
Plekhg1	A	G	10: 3,964,106	N1276S	probably damaging	Het
Ppig	T	C	2: 69,732,227	V5A	probably benign	Het
Prag1	A	T	8: 36,147,426		probably benign	Het
Prom1	T	C	5: 44,063,154	N84S	probably benign	Het
Ptprh	T	A	7: 4,580,930	Y221F	probably damaging	Het
Qsox2	A	G	2: 26,220,719	Y162H	probably benign	Het
Rab2a	C	T	4: 8,572,553	T49M	possibly damaging	Het
Ring1	A	G	17: 34,023,148	S96P	possibly damaging	Het
Ripk3	A	G	14: 55,785,234	F411S	probably benign	Het
Rock1	T	C	18: 10,070,619		probably null	Het
Rtn4rl1	A	G	11: 75,265,819	N359S	probably damaging	Het
Ssfa2	T	C	2: 79,635,642	S35P	probably damaging	Het
Sufu	A	G	19: 46,425,042	T76A	probably damaging	Het
Sugct	C	A	13: 17,452,468	V267F	probably damaging	Het
Tcf4	A	T	18: 69,564,139	R29W	probably damaging	Het
Tnfsf18	A	T	1: 161,503,589	I103L	probably benign	Het
Vwf	A	G	6: 125,677,916	E2525G	probably benign	Het

Other mutations in Cntn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Cntn6	APN	6	104650400	missense	probably damaging	0.99
IGL01331:Cntn6	APN	6	104774523	missense	probably damaging	1.00
IGL01619:Cntn6	APN	6	104728374	splice site	probably benign
IGL02028:Cntn6	APN	6	104859426	missense	probably damaging	0.99
IGL02557:Cntn6	APN	6	104774535	missense	probably damaging	1.00
IGL03000:Cntn6	APN	6	104804386	missense	probably damaging	1.00
IGL03367:Cntn6	APN	6	104804338	missense	probably damaging	1.00
IGL03383:Cntn6	APN	6	104776457	splice site	probably benign
PIT4366001:Cntn6	UTSW	6	104832537	missense	probably benign	0.05
R0490:Cntn6	UTSW	6	104833918	missense	possibly damaging	0.91
R0583:Cntn6	UTSW	6	104776314	missense	possibly damaging	0.79
R0636:Cntn6	UTSW	6	104863148	missense	probably benign	0.00
R0654:Cntn6	UTSW	6	104776428	missense	probably benign	0.00
R0960:Cntn6	UTSW	6	104774480	missense	probably benign	0.01
R1241:Cntn6	UTSW	6	104832509	missense	probably damaging	1.00
R1385:Cntn6	UTSW	6	104861900	missense	probably benign	0.07
R1401:Cntn6	UTSW	6	104804398	missense	possibly damaging	0.65
R1478:Cntn6	UTSW	6	104776428	missense	probably benign	0.00
R1542:Cntn6	UTSW	6	104848100	missense	probably damaging	1.00
R1593:Cntn6	UTSW	6	104832580	missense	possibly damaging	0.58
R1840:Cntn6	UTSW	6	104774480	missense	probably damaging	1.00
R2066:Cntn6	UTSW	6	104861822	nonsense	probably null
R2097:Cntn6	UTSW	6	104861949	missense	probably damaging	0.99
R2289:Cntn6	UTSW	6	104569028	start gained	probably benign
R2429:Cntn6	UTSW	6	104650565	missense	possibly damaging	0.96
R2967:Cntn6	UTSW	6	104726237	missense	probably benign	0.04
R4009:Cntn6	UTSW	6	104833822	missense	probably damaging	0.98
R4476:Cntn6	UTSW	6	104772561	missense	probably damaging	1.00
R4664:Cntn6	UTSW	6	104728284	missense	probably benign	0.20
R4666:Cntn6	UTSW	6	104728284	missense	probably benign	0.20
R4701:Cntn6	UTSW	6	104804360	missense	probably benign	0.01
R4780:Cntn6	UTSW	6	104845784	missense	probably damaging	1.00
R4854:Cntn6	UTSW	6	104859475	missense	possibly damaging	0.95
R4965:Cntn6	UTSW	6	104774474	missense	probably damaging	0.99
R5051:Cntn6	UTSW	6	104772597	missense	probably damaging	1.00
R5075:Cntn6	UTSW	6	104833030	missense	probably damaging	1.00
R5152:Cntn6	UTSW	6	104569113	intron	probably benign
R5291:Cntn6	UTSW	6	104726135	missense	probably damaging	1.00
R5388:Cntn6	UTSW	6	104832562	missense	probably damaging	1.00
R5852:Cntn6	UTSW	6	104835745	missense	probably damaging	0.97
R5937:Cntn6	UTSW	6	104833103	missense	possibly damaging	0.68
R5980:Cntn6	UTSW	6	104848132	missense	probably damaging	0.98
R6290:Cntn6	UTSW	6	104767890	missense	probably damaging	1.00
R6338:Cntn6	UTSW	6	104726139	missense	probably damaging	1.00
R6396:Cntn6	UTSW	6	104650500	missense	probably damaging	1.00
R6447:Cntn6	UTSW	6	104859448	missense	probably damaging	1.00
R6860:Cntn6	UTSW	6	104861946	missense	possibly damaging	0.95
R6871:Cntn6	UTSW	6	104845758	frame shift	probably null
R7012:Cntn6	UTSW	6	104726262	missense	probably damaging	0.98
R7012:Cntn6	UTSW	6	104774480	missense	probably benign	0.01
R7337:Cntn6	UTSW	6	104650530	missense	probably damaging	0.99
R7658:Cntn6	UTSW	6	104650483	missense	probably benign	0.29
R8133:Cntn6	UTSW	6	104728337	missense	probably benign	0.19
R8463:Cntn6	UTSW	6	104772619	missense	possibly damaging	0.64
R8909:Cntn6	UTSW	6	104848132	missense	probably benign	0.05
R9232:Cntn6	UTSW	6	104838820	missense	probably damaging	1.00
R9287:Cntn6	UTSW	6	104832510	missense	possibly damaging	0.89
R9454:Cntn6	UTSW	6	104804347	missense	possibly damaging	0.82
R9698:Cntn6	UTSW	6	104833083	nonsense	probably null
X0020:Cntn6	UTSW	6	104767884	missense	probably benign	0.00
Z1177:Cntn6	UTSW	6	104832584	missense	probably damaging	1.00

Posted On

2015-04-16