Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02156:Cbln4'

282243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbln4

Ensembl Gene

ENSMUSG00000067578

Gene Name

cerebellin 4 precursor protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL02156

Quality Score

Status

Chromosome

Chromosomal Location

171878256-171885386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171884128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 31 (I31V)

Ref Sequence

ENSEMBL: ENSMUSP00000085263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087950]

AlphaFold

Q8BME9

Predicted Effect

probably benign
Transcript: ENSMUST00000087950
AA Change: I31V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: I31V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
C1Q	61	198	1.14e-46	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137886

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [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
4930408O17Rik	G	A	12: 104,837,566 (GRCm39)		noncoding transcript	Het
Adam33	G	A	2: 130,895,078 (GRCm39)		probably benign	Het
Akr7a5	C	A	4: 139,041,580 (GRCm39)	A163D	probably damaging	Het
Arap1	T	C	7: 101,037,937 (GRCm39)		probably benign	Het
Asf1a	C	T	10: 53,482,239 (GRCm39)	A17V	probably benign	Het
Atp1a4	A	T	1: 172,085,529 (GRCm39)	S25T	probably benign	Het
Ccdc93	T	G	1: 121,376,005 (GRCm39)	L172R	possibly damaging	Het
Ceacam9	T	C	7: 16,457,544 (GRCm39)		probably benign	Het
Crhr1	C	A	11: 104,054,709 (GRCm39)	N107K	probably benign	Het
Cyp11b1	T	A	15: 74,707,646 (GRCm39)	M488L	probably benign	Het
Dnah7a	A	G	1: 53,458,882 (GRCm39)	V3752A	probably benign	Het
Dnhd1	G	A	7: 105,370,951 (GRCm39)	V4744M	probably damaging	Het
Dstyk	C	A	1: 132,377,664 (GRCm39)	N423K	probably benign	Het
Exph5	T	C	9: 53,286,941 (GRCm39)	S1341P	probably damaging	Het
Fam161b	T	C	12: 84,401,527 (GRCm39)	H409R	probably benign	Het
Fbxo21	A	G	5: 118,132,733 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,618,551 (GRCm39)	I230T	probably damaging	Het
Gm9931	T	C	1: 147,157,366 (GRCm39)		noncoding transcript	Het
Grk6	T	C	13: 55,597,174 (GRCm39)	F36L	possibly damaging	Het
Grm1	G	T	10: 10,595,720 (GRCm39)	A636D	probably damaging	Het
Hectd1	A	T	12: 51,800,916 (GRCm39)		probably benign	Het
Hltf	G	A	3: 20,146,971 (GRCm39)	V577I	possibly damaging	Het
Hrob	C	T	11: 102,145,865 (GRCm39)	S47F	probably damaging	Het
Lrrc8c	A	G	5: 105,755,359 (GRCm39)	D378G	probably damaging	Het
Mcoln1	C	A	8: 3,562,657 (GRCm39)	S6*	probably null	Het
Meis1	A	T	11: 18,961,292 (GRCm39)	S194T	probably benign	Het
Myo1h	A	C	5: 114,491,972 (GRCm39)		probably benign	Het
Nop9	T	A	14: 55,990,740 (GRCm39)	C557*	probably null	Het
Nrap	T	C	19: 56,309,432 (GRCm39)	D1619G	probably damaging	Het
Or10d1c	T	A	9: 38,893,842 (GRCm39)	Y166F	possibly damaging	Het
Or4f61	A	T	2: 111,922,361 (GRCm39)	H228Q	probably benign	Het
Or7g34	A	G	9: 19,478,494 (GRCm39)	M59T	probably damaging	Het
Pard3b	T	A	1: 61,807,109 (GRCm39)	D41E	possibly damaging	Het
Parp14	G	T	16: 35,678,967 (GRCm39)	Q334K	probably benign	Het
Phf3	A	T	1: 30,847,859 (GRCm39)	I1228K	probably damaging	Het
Polr1b	T	A	2: 128,965,799 (GRCm39)	F814I	probably benign	Het
Prr5	A	G	15: 84,654,236 (GRCm39)	I306V	possibly damaging	Het
Rsph1	T	G	17: 31,477,090 (GRCm39)	S282R	probably benign	Het
Son	T	C	16: 91,452,992 (GRCm39)	S580P	possibly damaging	Het
Sptbn5	G	T	2: 119,878,098 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,491,095 (GRCm39)		probably null	Het
Tfpt	A	G	7: 3,632,039 (GRCm39)	S24P	probably damaging	Het
Tg	A	G	15: 66,577,197 (GRCm39)	T1507A	probably benign	Het
Trpm7	A	G	2: 126,641,163 (GRCm39)		probably benign	Het
Wwox	G	A	8: 115,174,899 (GRCm39)		probably null	Het
Ythdf2	C	T	4: 131,931,819 (GRCm39)	R447H	possibly damaging	Het
Zfp385c	A	G	11: 100,519,845 (GRCm39)	F368S	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zhx1	A	C	15: 57,917,445 (GRCm39)	V267G	possibly damaging	Het

Other mutations in Cbln4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Cbln4	APN	2	171,880,970 (GRCm39)	missense	probably benign	0.44
R1035:Cbln4	UTSW	2	171,883,989 (GRCm39)	missense	possibly damaging	0.78
R1352:Cbln4	UTSW	2	171,879,376 (GRCm39)	missense	possibly damaging	0.89
R3031:Cbln4	UTSW	2	171,884,100 (GRCm39)	missense	probably damaging	0.99
R4013:Cbln4	UTSW	2	171,879,477 (GRCm39)	missense	probably damaging	0.98
R4881:Cbln4	UTSW	2	171,884,059 (GRCm39)	missense	possibly damaging	0.78
R4934:Cbln4	UTSW	2	171,880,901 (GRCm39)	missense	probably damaging	1.00
R6084:Cbln4	UTSW	2	171,884,016 (GRCm39)	missense	probably damaging	1.00
R7138:Cbln4	UTSW	2	171,884,095 (GRCm39)	missense	probably damaging	1.00
R9695:Cbln4	UTSW	2	171,879,469 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16