Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Cntn4'

17062

Institutional Source

Beutler Lab

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105677660-106699310 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 106618424 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113258] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]

Predicted Effect

probably benign
Transcript: ENSMUST00000079416

SMART Domains

Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089208

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113258

SMART Domains

Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113260

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113261

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113264

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132395

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Cntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cntn4	APN	6	106506225	missense	probably damaging	1.00
IGL00725:Cntn4	APN	6	106662655	missense	probably damaging	1.00
IGL01062:Cntn4	APN	6	106618278	splice site	probably benign
IGL01432:Cntn4	APN	6	106678334	splice site	probably benign
IGL01585:Cntn4	APN	6	106618328	nonsense	probably null
IGL01710:Cntn4	APN	6	106550431	missense	possibly damaging	0.87
IGL01870:Cntn4	APN	6	106489715	missense	possibly damaging	0.95
IGL01933:Cntn4	APN	6	106694384	missense	probably damaging	0.99
IGL01937:Cntn4	APN	6	106437904	missense	probably damaging	1.00
IGL01945:Cntn4	APN	6	106437904	missense	probably damaging	1.00
IGL02007:Cntn4	APN	6	106655529	missense	probably benign	0.03
IGL02506:Cntn4	APN	6	106618388	missense	probably benign	0.24
IGL02561:Cntn4	APN	6	106523509	missense	probably damaging	1.00
IGL03080:Cntn4	APN	6	106655539	missense	probably damaging	1.00
IGL03338:Cntn4	APN	6	106655589	missense	probably damaging	0.98
IGL03097:Cntn4	UTSW	6	106353712	missense	probably benign	0.10
LCD18:Cntn4	UTSW	6	106553940	intron	probably benign
R0083:Cntn4	UTSW	6	106525369	missense	possibly damaging	0.79
R0501:Cntn4	UTSW	6	106618335	missense	probably damaging	1.00
R0626:Cntn4	UTSW	6	106662578	missense	probably benign	0.07
R0633:Cntn4	UTSW	6	106679248	splice site	probably null
R0730:Cntn4	UTSW	6	106550486	missense	probably damaging	1.00
R0849:Cntn4	UTSW	6	106667457	missense	probably damaging	1.00
R0883:Cntn4	UTSW	6	106667540	splice site	probably benign
R0926:Cntn4	UTSW	6	106655581	missense	probably benign	0.21
R1199:Cntn4	UTSW	6	106353597	splice site	probably benign
R1293:Cntn4	UTSW	6	106353724	missense	probably benign	0.00
R1296:Cntn4	UTSW	6	106509402	missense	probably damaging	1.00
R1344:Cntn4	UTSW	6	106344870	splice site	probably null
R1418:Cntn4	UTSW	6	106344870	splice site	probably null
R1660:Cntn4	UTSW	6	106679297	missense	probably benign	0.35
R1751:Cntn4	UTSW	6	106618410	critical splice donor site	probably null
R1883:Cntn4	UTSW	6	106679392	missense	probably benign	0.01
R1884:Cntn4	UTSW	6	106679392	missense	probably benign	0.01
R1899:Cntn4	UTSW	6	106675813	missense	probably benign	0.21
R1906:Cntn4	UTSW	6	106353646	missense	probably benign	0.00
R2048:Cntn4	UTSW	6	106437864	splice site	probably benign
R2113:Cntn4	UTSW	6	106489697	missense	probably damaging	1.00
R3177:Cntn4	UTSW	6	106437964	critical splice donor site	probably null
R3277:Cntn4	UTSW	6	106437964	critical splice donor site	probably null
R3944:Cntn4	UTSW	6	106618414	missense	probably benign	0.10
R4401:Cntn4	UTSW	6	106489664	missense	possibly damaging	0.94
R4540:Cntn4	UTSW	6	106675748	missense	probably damaging	1.00
R4688:Cntn4	UTSW	6	106437949	missense	probably damaging	1.00
R4697:Cntn4	UTSW	6	106525485	missense	probably damaging	1.00
R4810:Cntn4	UTSW	6	106655611	missense	probably benign	0.04
R4816:Cntn4	UTSW	6	106550497	missense	probably benign
R4873:Cntn4	UTSW	6	106437913	missense	possibly damaging	0.61
R4875:Cntn4	UTSW	6	106437913	missense	possibly damaging	0.61
R4953:Cntn4	UTSW	6	106525418	missense	probably benign	0.01
R5288:Cntn4	UTSW	6	106181804	missense	possibly damaging	0.60
R5336:Cntn4	UTSW	6	106662634	missense	possibly damaging	0.72
R5386:Cntn4	UTSW	6	106181804	missense	possibly damaging	0.60
R5477:Cntn4	UTSW	6	106673950	missense	possibly damaging	0.88
R5514:Cntn4	UTSW	6	106672883	missense	probably damaging	1.00
R5668:Cntn4	UTSW	6	106679436	splice site	silent
R6334:Cntn4	UTSW	6	106344786	missense	probably benign
R6334:Cntn4	UTSW	6	106506192	missense	probably benign	0.29
R6904:Cntn4	UTSW	6	106697583	missense	probably benign	0.03
R6985:Cntn4	UTSW	6	106679417	missense	probably benign	0.03
R7246:Cntn4	UTSW	6	106506219	missense	probably damaging	1.00
R7282:Cntn4	UTSW	6	106525460	missense	probably damaging	0.99
R7585:Cntn4	UTSW	6	106489611	missense	probably damaging	1.00
R7667:Cntn4	UTSW	6	106679895	missense	possibly damaging	0.83
R7781:Cntn4	UTSW	6	106523614	missense	probably damaging	1.00
R7882:Cntn4	UTSW	6	106353723	missense	probably benign
R8081:Cntn4	UTSW	6	106674607	missense	possibly damaging	0.95
R8105:Cntn4	UTSW	6	106353606	missense	probably damaging	1.00
R8221:Cntn4	UTSW	6	106509510	missense	probably benign	0.17
Z1176:Cntn4	UTSW	6	106509464	missense	probably benign	0.28
Z1176:Cntn4	UTSW	6	106523563	missense	probably benign	0.00
Z1177:Cntn4	UTSW	6	106550425	missense	probably damaging	1.00
Z1177:Cntn4	UTSW	6	106662618	missense	probably damaging	1.00

Posted On

2013-01-20