Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02948:Cntn1'

364835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn1

Ensembl Gene

ENSMUSG00000055022

Gene Name

contactin 1

Synonyms

CNTN, F3cam

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

92051165-92341967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92246010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 285 (T285A)

Ref Sequence

ENSEMBL: ENSMUSP00000133063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000109] [ENSMUST00000068378] [ENSMUST00000169825]

AlphaFold

P12960

Predicted Effect

probably benign
Transcript: ENSMUST00000000109
AA Change: T285A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: T285A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	56	121	4.07e-4	SMART
IG	143	232	1.25e-4	SMART
IGc2	254	317	1.24e-17	SMART
IGc2	343	398	4.22e-11	SMART
IGc2	427	491	2.52e-9	SMART
IG	511	603	3.51e-8	SMART
FN3	606	692	6.69e-12	SMART
FN3	709	795	1.17e-2	SMART
FN3	811	892	1.16e-6	SMART
FN3	907	987	2.46e-1	SMART
low complexity region	995	1018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068378
AA Change: T285A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: T285A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	56	121	4.07e-4	SMART
IG	143	232	1.25e-4	SMART
IGc2	254	317	1.24e-17	SMART
IGc2	343	398	4.22e-11	SMART
IGc2	427	491	2.52e-9	SMART
IG	511	603	3.51e-8	SMART
FN3	606	692	6.69e-12	SMART
FN3	709	795	1.17e-2	SMART
FN3	811	892	1.16e-6	SMART
FN3	907	987	2.46e-1	SMART
low complexity region	995	1018	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141187

Predicted Effect

probably benign
Transcript: ENSMUST00000169825
AA Change: T285A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: T285A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	56	121	4.07e-4	SMART
IG	143	232	1.25e-4	SMART
IGc2	254	317	1.24e-17	SMART
IGc2	343	398	4.22e-11	SMART
IGc2	427	491	2.52e-9	SMART
IG	511	603	3.51e-8	SMART
FN3	606	692	6.69e-12	SMART
FN3	709	795	1.17e-2	SMART
FN3	811	892	1.16e-6	SMART
FN3	907	987	2.46e-1	SMART
low complexity region	995	1018	N/A	INTRINSIC

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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,319		probably benign	Het
Ano3	A	T	2: 110,697,018		probably benign	Het
Arpp21	T	C	9: 112,176,200	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440		probably benign	Het
Ceacam13	C	T	7: 18,011,063		probably benign	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Dusp4	G	T	8: 34,818,572	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066		probably benign	Het
Esyt1	A	T	10: 128,519,171	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992		probably benign	Het
Fam162b	T	C	10: 51,587,296	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,341,711		probably benign	Het
Hhatl	T	C	9: 121,789,791	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384		probably null	Het
Lrp2	G	T	2: 69,487,837	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771		probably benign	Het
Ropn1l	T	C	15: 31,451,179	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,254,450		probably null	Het
Rtn2	T	C	7: 19,293,111	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962	Y131*	probably null	Het
Slc28a2	T	A	2: 122,457,977	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,133,235		probably null	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952	L211Q	probably damaging	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,446,330	T1126I	probably benign	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641	S17T	probably benign	Het

Other mutations in Cntn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Cntn1	APN	15	92250877	missense	possibly damaging	0.92
IGL01109:Cntn1	APN	15	92339577	nonsense	probably null
IGL01399:Cntn1	APN	15	92305144	missense	probably damaging	1.00
IGL01714:Cntn1	APN	15	92253989	nonsense	probably null
IGL02052:Cntn1	APN	15	92291703	missense	possibly damaging	0.95
IGL02342:Cntn1	APN	15	92246017	missense	probably benign	0.01
IGL02507:Cntn1	APN	15	92250979	missense	possibly damaging	0.92
IGL02511:Cntn1	APN	15	92216385	start gained	probably benign
IGL02702:Cntn1	APN	15	92291601	splice site	probably benign
IGL02927:Cntn1	APN	15	92291680	missense	probably benign	0.12
R0035:Cntn1	UTSW	15	92232088	splice site	probably benign
R0084:Cntn1	UTSW	15	92317917	missense	probably benign	0.01
R0346:Cntn1	UTSW	15	92232087	splice site	probably benign
R0634:Cntn1	UTSW	15	92314563	nonsense	probably null
R1348:Cntn1	UTSW	15	92314663	missense	probably damaging	1.00
R1613:Cntn1	UTSW	15	92245990	missense	possibly damaging	0.60
R1793:Cntn1	UTSW	15	92291671	missense	possibly damaging	0.92
R1815:Cntn1	UTSW	15	92250948	missense	probably benign	0.00
R1851:Cntn1	UTSW	15	92305140	missense	probably damaging	1.00
R1852:Cntn1	UTSW	15	92305140	missense	probably damaging	1.00
R2068:Cntn1	UTSW	15	92318062	missense	possibly damaging	0.82
R2269:Cntn1	UTSW	15	92294982	splice site	probably benign
R4394:Cntn1	UTSW	15	92291764	missense	probably damaging	1.00
R4667:Cntn1	UTSW	15	92295079	missense	probably damaging	1.00
R4771:Cntn1	UTSW	15	92305091	missense	possibly damaging	0.82
R4944:Cntn1	UTSW	15	92228668	missense	probably damaging	1.00
R5044:Cntn1	UTSW	15	92242995	missense	probably damaging	1.00
R5218:Cntn1	UTSW	15	92339549	missense	unknown
R5314:Cntn1	UTSW	15	92295011	missense	probably benign	0.01
R5445:Cntn1	UTSW	15	92295077	missense	probably damaging	1.00
R5518:Cntn1	UTSW	15	92314653	missense	probably benign	0.00
R6849:Cntn1	UTSW	15	92305246	missense	probably damaging	0.99
R6885:Cntn1	UTSW	15	92243099	critical splice donor site	probably null
R7035:Cntn1	UTSW	15	92314511	missense	probably benign	0.04
R7070:Cntn1	UTSW	15	92254036	missense	probably damaging	1.00
R7287:Cntn1	UTSW	15	92245952	splice site	probably null
R7311:Cntn1	UTSW	15	92232275	critical splice donor site	probably null
R7401:Cntn1	UTSW	15	92317989	missense	probably benign
R7484:Cntn1	UTSW	15	92254041	missense	probably benign	0.00
R7492:Cntn1	UTSW	15	92314542	missense	probably benign
R7617:Cntn1	UTSW	15	92246089	missense	probably damaging	1.00
R7644:Cntn1	UTSW	15	92310009	missense	probably benign	0.14
R7878:Cntn1	UTSW	15	92295053	missense	probably damaging	1.00
R8354:Cntn1	UTSW	15	92232249	missense	probably benign
R8454:Cntn1	UTSW	15	92232249	missense	probably benign
R8465:Cntn1	UTSW	15	92339523	frame shift	probably null
R8757:Cntn1	UTSW	15	92255920	missense	possibly damaging	0.90
R8759:Cntn1	UTSW	15	92255920	missense	possibly damaging	0.90
R8767:Cntn1	UTSW	15	92234466	missense	probably damaging	1.00
R8768:Cntn1	UTSW	15	92234466	missense	probably damaging	1.00
R8885:Cntn1	UTSW	15	92261499	missense	probably benign	0.00
R8972:Cntn1	UTSW	15	92252397	missense	probably benign	0.18
R8993:Cntn1	UTSW	15	92234466	missense	probably damaging	1.00
R8995:Cntn1	UTSW	15	92234466	missense	probably damaging	1.00
R8997:Cntn1	UTSW	15	92234466	missense	probably damaging	1.00
R9151:Cntn1	UTSW	15	92242983	missense	probably damaging	1.00
R9438:Cntn1	UTSW	15	92246143	critical splice donor site	probably null
R9493:Cntn1	UTSW	15	92291763	missense	probably damaging	1.00
Z1177:Cntn1	UTSW	15	92309970	missense	probably damaging	1.00

Posted On

2015-12-18