Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03000:Cntn6'

407297

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 #

IGL03000

Quality Score

Status

Chromosome

Chromosomal Location

104492790-104863406 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104804386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 478 (T478S)

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: T478S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: T478S

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 damaging
Transcript: ENSMUST00000161070
AA Change: T406S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: T406S

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: T478S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: T478S

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,321,800	S445G	probably benign	Het
Abca5	C	T	11: 110,317,814	V226I	probably benign	Het
Ankrd34c	A	T	9: 89,729,186	D367E	probably benign	Het
Bmp6	G	T	13: 38,498,911		probably benign	Het
Cacna2d2	T	C	9: 107,524,198		probably null	Het
Cblb	T	G	16: 52,204,542	D933E	probably damaging	Het
Ccny	A	G	18: 9,353,489	S95P	probably benign	Het
Cep192	A	G	18: 67,852,044	I1658V	probably damaging	Het
Cpne7	T	C	8: 123,126,696	F247L	probably benign	Het
Csf1r	A	G	18: 61,109,652	E29G	probably damaging	Het
Dctn3	T	A	4: 41,719,912	I65F	possibly damaging	Het
Dock1	A	G	7: 134,789,240	E743G	probably benign	Het
Dus2	C	A	8: 106,048,684	T281N	probably damaging	Het
Gbx1	G	T	5: 24,504,926	T307K	probably benign	Het
Gtf2ird2	A	T	5: 134,194,906	N93I	probably benign	Het
Heatr1	A	G	13: 12,434,411	D1930G	probably damaging	Het
Hif3a	T	C	7: 17,048,639	I334V	probably benign	Het
Ints1	G	T	5: 139,766,506	N756K	probably benign	Het
Kcnn2	T	C	18: 45,560,568	F404L	probably damaging	Het
Kmt2c	G	A	5: 25,284,172	R4590W	probably damaging	Het
Limk1	A	T	5: 134,670,501	V134E	probably damaging	Het
Mep1a	A	G	17: 43,474,990	V736A	probably benign	Het
Mex3a	T	A	3: 88,536,295	I226N	probably damaging	Het
Mgl2	A	T	11: 70,134,200	K16*	probably null	Het
Mms22l	G	T	4: 24,581,161	V864L	probably damaging	Het
Mroh4	T	A	15: 74,616,114	M320L	probably benign	Het
Mylk3	G	A	8: 85,359,177	P243S	probably damaging	Het
Nbea	A	C	3: 56,004,627	D1246E	possibly damaging	Het
Ndnf	A	G	6: 65,703,315	T193A	possibly damaging	Het
Nfasc	T	C	1: 132,621,509		probably benign	Het
Olfr421-ps1	A	G	1: 174,151,560	T15A	probably benign	Het
Ptprq	A	T	10: 107,542,657	F2008I	probably damaging	Het
Rhag	A	G	17: 40,828,522	K116R	probably benign	Het
Rictor	T	A	15: 6,769,240		probably benign	Het
Slc35f5	C	A	1: 125,574,742	T277N	probably damaging	Het
Sorcs2	A	G	5: 36,065,331		probably benign	Het
Ssh2	T	A	11: 77,421,206		probably benign	Het
Togaram2	T	C	17: 71,717,370	S830P	probably benign	Het
Trim30d	T	C	7: 104,473,269	T112A	probably benign	Het
Ttc34	T	C	4: 154,865,431	V947A	probably damaging	Het
Ttn	A	G	2: 76,812,609		probably benign	Het
Ubr5	A	T	15: 38,024,852	V560D	probably damaging	Het
Ush2a	A	T	1: 188,549,856	E1856V	possibly damaging	Het
Zfp142	T	C	1: 74,573,618	M457V	probably benign	Het
Zfp711	C	T	X: 112,624,858	Q137*	probably null	Het
Zkscan17	T	C	11: 59,487,160	Y399C	probably damaging	Het
Zswim6	T	G	13: 107,727,114		noncoding transcript	Het
Zswim6	T	A	13: 107,727,115		noncoding transcript	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
IGL02420:Cntn6	APN	6	104846142	critical splice donor site	probably null
IGL02557:Cntn6	APN	6	104774535	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

2016-08-02