Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Cntn6'

184277

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 #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

104492790-104863406 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104859426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 918 (K918E)

Ref Sequence

ENSEMBL: ENSMUSP00000124025 (fasta)

Gene Model

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

AlphaFold

Q9JMB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000089215
AA Change: K918E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: K918E

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: K846E

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: K846E

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 damaging
Transcript: ENSMUST00000162872
AA Change: K918E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: K918E

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,434,283	Y53C	probably damaging	Het
Acacb	T	A	5: 114,166,015	D166E	probably damaging	Het
Akap8l	T	C	17: 32,338,521		probably null	Het
Arl6ip5	A	G	6: 97,229,650	Y97C	probably damaging	Het
Atad5	T	A	11: 80,134,110	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,059,646	Q155R	probably damaging	Het
Ccdc33	T	C	9: 58,076,578	N446S	probably benign	Het
Cd3eap	T	C	7: 19,357,078	K368R	probably damaging	Het
Cdh2	T	C	18: 16,650,420	D84G	probably benign	Het
Dock6	T	C	9: 21,838,826	D521G	probably damaging	Het
Etv6	C	T	6: 134,248,733	A309V	probably benign	Het
Ezh1	G	T	11: 101,199,340	H529Q	probably damaging	Het
Figla	T	C	6: 86,017,363	L40P	probably damaging	Het
Gabra4	T	A	5: 71,633,596	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,706,920	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,317,961	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,642,196	K103E	probably benign	Het
Gne	A	G	4: 44,066,852	S23P	probably damaging	Het
Hipk2	A	G	6: 38,818,756	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,511,452	V283I	probably damaging	Het
Mcm10	A	T	2: 5,008,700	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,137,413	I462F	possibly damaging	Het
Myh1	T	A	11: 67,210,615	I711N	probably damaging	Het
Oit3	A	G	10: 59,438,655	F108L	probably damaging	Het
Olfr1289	T	C	2: 111,483,471	F14L	probably benign	Het
Olfr913	T	A	9: 38,594,419	L66*	probably null	Het
Rbm19	A	G	5: 120,120,236	D172G	probably damaging	Het
Ribc2	A	G	15: 85,143,335	D339G	possibly damaging	Het
Rras2	C	A	7: 114,060,362	V56L	probably benign	Het
Scn2a	A	G	2: 65,763,658	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,031	M236L	probably benign	Het
Snrnp27	C	T	6: 86,682,973	R13H	unknown	Het
Srgap2	T	C	1: 131,296,435	K92E	probably damaging	Het
Suco	T	C	1: 161,856,859	K231E	possibly damaging	Het
Tll2	C	A	19: 41,098,649	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940	I6L	possibly damaging	Het
Tnc	A	C	4: 63,966,672		probably benign	Het
Tob1	G	A	11: 94,214,226	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,409,553	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,258,137	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,030,884		noncoding transcript	Het
Vmn1r88	C	T	7: 13,177,792	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,541,080	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,741,860	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,161	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,379,223	I347F	probably benign	Het
Wasf2	G	A	4: 133,195,801	R474H	probably damaging	Het
Wdr60	C	A	12: 116,256,061	R87L	probably benign	Het
Zmym5	T	C	14: 56,804,160	H162R	possibly damaging	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
IGL02420:Cntn6	APN	6	104846142	critical splice donor site	probably null
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

2014-05-07