Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00428:Cbln4'

6953

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 #

IGL00428

Quality Score

Status

Chromosome

Chromosomal Location

171878256-171885386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171880970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000085263 (fasta)

Gene Model

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

AlphaFold

Q8BME9

Predicted Effect

probably benign
Transcript: ENSMUST00000087950
AA Change: V108A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: V108A

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	A	10: 14,343,119 (GRCm39)	P276L	probably benign	Het
Asap1	G	A	15: 63,991,803 (GRCm39)		probably benign	Het
Axl	T	C	7: 25,460,297 (GRCm39)	T723A	probably damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Bltp1	A	G	3: 37,065,876 (GRCm39)	N3491S	probably benign	Het
Capn7	A	G	14: 31,085,535 (GRCm39)	K503E	probably benign	Het
Ccdc71	C	T	9: 108,341,354 (GRCm39)	T389M	probably damaging	Het
Ccdc91	A	G	6: 147,508,452 (GRCm39)	T393A	unknown	Het
Cdh20	A	T	1: 104,881,612 (GRCm39)	H359L	probably benign	Het
Cfap119	A	T	7: 127,184,210 (GRCm39)	S229T	probably damaging	Het
Coro7	C	T	16: 4,452,500 (GRCm39)	V364M	possibly damaging	Het
Ctsq	A	T	13: 61,185,528 (GRCm39)	N204K	probably damaging	Het
Dnaja3	C	T	16: 4,512,309 (GRCm39)	R238C	probably damaging	Het
Dynlt1a	C	T	17: 6,362,062 (GRCm39)	V39I	possibly damaging	Het
Gp1ba	A	G	11: 70,531,478 (GRCm39)		probably benign	Het
Gtf3c3	T	C	1: 54,455,114 (GRCm39)	Y583C	probably damaging	Het
Invs	T	C	4: 48,402,909 (GRCm39)	F514S	probably damaging	Het
Kif23	A	T	9: 61,833,750 (GRCm39)	C484S	probably benign	Het
Masp1	A	G	16: 23,295,062 (GRCm39)	Y400H	probably damaging	Het
Olfml3	G	A	3: 103,644,298 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,200,357 (GRCm39)	S299P	probably damaging	Het
Pcdhb16	A	T	18: 37,611,623 (GRCm39)	E194D	possibly damaging	Het
Pip5k1c	A	T	10: 81,141,545 (GRCm39)	T78S	probably benign	Het
Septin11	T	C	5: 93,304,877 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,422,823 (GRCm39)	N11D	probably benign	Het
Slc10a6	G	A	5: 103,760,362 (GRCm39)	T211I	probably benign	Het
Smim8	T	C	4: 34,769,006 (GRCm39)	T93A	probably benign	Het
Tg	A	G	15: 66,645,273 (GRCm39)	I774M	probably benign	Het
Tulp4	A	G	17: 6,189,351 (GRCm39)	T58A	probably damaging	Het
Virma	T	C	4: 11,519,424 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,970,177 (GRCm39)	D210G	probably damaging	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Cbln4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02156:Cbln4	APN	2	171,884,128 (GRCm39)	missense	probably benign	0.24
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

2012-04-20