Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01983:Cyrib'

183534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyrib

Ensembl Gene

ENSMUSG00000022378

Gene Name

CYFIP related Rac1 interactor B

Synonyms

0910001A06Rik, Fam49b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01983

Quality Score

Status

Chromosome

Chromosomal Location

63800946-63932327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63809236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 251 (S251P)

Ref Sequence

ENSEMBL: ENSMUSP00000154320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063838] [ENSMUST00000164532] [ENSMUST00000228226] [ENSMUST00000228908]

AlphaFold

Q921M7

Predicted Effect

probably benign
Transcript: ENSMUST00000063838
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378
AA Change: S251P

Domain	Start	End	E-Value	Type
Pfam:DUF1394	16	320	1e-179	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164532
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378
AA Change: S251P

Domain	Start	End	E-Value	Type
Pfam:DUF1394	18	320	3e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228226
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000228908

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	G	A	1: 66,880,783 (GRCm39)	Q328*	probably null	Het
Alpk2	T	C	18: 65,483,753 (GRCm39)	Y85C	probably damaging	Het
Arhgap31	C	T	16: 38,422,127 (GRCm39)	R1313Q	probably damaging	Het
Chrnb1	G	T	11: 69,686,555 (GRCm39)	R22S	probably benign	Het
Clec7a	G	A	6: 129,442,539 (GRCm39)		probably benign	Het
Epb41l5	A	G	1: 119,506,814 (GRCm39)		probably benign	Het
Hdac1-ps	T	A	17: 78,800,282 (GRCm39)	D424E	probably benign	Het
Hydin	A	C	8: 111,241,527 (GRCm39)	I2106L	probably benign	Het
Igkv3-5	T	A	6: 70,640,670 (GRCm39)	D50E	probably benign	Het
Irf2bp1	G	T	7: 18,739,220 (GRCm39)	A287S	possibly damaging	Het
Ldb3	G	A	14: 34,299,156 (GRCm39)	S156L	probably benign	Het
Lnpep	A	T	17: 17,751,440 (GRCm39)	W942R	probably damaging	Het
Mst1r	T	A	9: 107,794,475 (GRCm39)	V1218D	probably damaging	Het
Naxd	G	T	8: 11,560,218 (GRCm39)		probably benign	Het
Nol9	T	C	4: 152,130,494 (GRCm39)		probably null	Het
Nus1	T	A	10: 52,312,753 (GRCm39)	L295Q	probably damaging	Het
Nxph2	A	G	2: 23,289,946 (GRCm39)	I99M	probably benign	Het
Plekhg1	T	A	10: 3,895,904 (GRCm39)	I432N	probably damaging	Het
Pon3	A	G	6: 5,240,974 (GRCm39)	L69S	probably damaging	Het
Pram1	C	A	17: 33,859,835 (GRCm39)	A134D	probably damaging	Het
Serpinb6c	T	A	13: 34,081,317 (GRCm39)		probably benign	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tbc1d10c	T	A	19: 4,240,708 (GRCm39)	Q34L	possibly damaging	Het
Tnr	G	A	1: 159,691,349 (GRCm39)	V500I	probably benign	Het
Trim66	G	A	7: 109,057,458 (GRCm39)	R992*	probably null	Het
Unc45b	A	G	11: 82,827,687 (GRCm39)	D728G	probably benign	Het
Usp13	A	G	3: 32,971,608 (GRCm39)	D696G	probably damaging	Het
Utrn	C	T	10: 12,545,525 (GRCm39)	V1707I	probably benign	Het
Vmn2r96	A	T	17: 18,817,527 (GRCm39)	H368L	probably damaging	Het
Xrn1	T	C	9: 95,855,421 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,673,866 (GRCm39)	L1639M	probably damaging	Het
Znfx1	A	T	2: 166,898,270 (GRCm39)	V218E	probably damaging	Het

Other mutations in Cyrib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Cyrib	APN	15	63,803,535 (GRCm39)	splice site	probably benign
Topsy	UTSW	15	63,810,526 (GRCm39)	missense	probably damaging	0.99
turvey	UTSW	15	63,828,447 (GRCm39)	critical splice donor site	probably null
Upsidedown	UTSW	15	63,810,507 (GRCm39)	splice site	probably null
PIT4480001:Cyrib	UTSW	15	63,828,490 (GRCm39)	missense	probably benign	0.42
R3956:Cyrib	UTSW	15	63,813,823 (GRCm39)	missense	probably damaging	1.00
R5181:Cyrib	UTSW	15	63,810,526 (GRCm39)	missense	probably damaging	0.99
R5484:Cyrib	UTSW	15	63,815,056 (GRCm39)	missense	probably damaging	1.00
R5723:Cyrib	UTSW	15	63,828,447 (GRCm39)	critical splice donor site	probably null
R7260:Cyrib	UTSW	15	63,829,438 (GRCm39)	missense	possibly damaging	0.65
R7368:Cyrib	UTSW	15	63,810,507 (GRCm39)	splice site	probably null
R8053:Cyrib	UTSW	15	63,813,832 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07