Mutagenetix > Incidental Mutation

Incidental Mutation 'R5723:Cyrib'

452349

Institutional Source

Beutler Lab

Gene Symbol

Cyrib

Ensembl Gene

ENSMUSG00000022378

Gene Name

CYFIP related Rac1 interactor B

Synonyms

0910001A06Rik, Fam49b

MMRRC Submission

043341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63800946-63932327 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 63828447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063838] [ENSMUST00000164532] [ENSMUST00000226675] [ENSMUST00000227024] [ENSMUST00000228226] [ENSMUST00000228908]

AlphaFold

Q921M7

Predicted Effect

probably null
Transcript: ENSMUST00000063838

SMART Domains

Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378

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

Predicted Effect

probably null
Transcript: ENSMUST00000164532

SMART Domains

Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226675

Predicted Effect

probably null
Transcript: ENSMUST00000227024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227118

Predicted Effect

probably null
Transcript: ENSMUST00000228226

Predicted Effect

probably null
Transcript: ENSMUST00000228908

Meta Mutation Damage Score

0.9584

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,445 (GRCm39)	D862G	possibly damaging	Het
Abcg2	C	T	6: 58,655,336 (GRCm39)	Q109*	probably null	Het
Acbd7	A	G	2: 3,341,455 (GRCm39)	Y33C	probably damaging	Het
Actl7a	A	G	4: 56,744,310 (GRCm39)	D279G	probably damaging	Het
Akr1c18	A	T	13: 4,194,328 (GRCm39)	Y110*	probably null	Het
Akt1	T	C	12: 112,623,704 (GRCm39)	K276E	probably damaging	Het
Bcas2	A	G	3: 103,084,608 (GRCm39)		probably benign	Het
C9	T	A	15: 6,516,297 (GRCm39)	Y367N	probably damaging	Het
Cd163	A	G	6: 124,296,022 (GRCm39)	T789A	probably benign	Het
Cers6	T	A	2: 68,938,789 (GRCm39)	S344T	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Crisp3	A	C	17: 40,546,804 (GRCm39)	V38G	probably damaging	Het
Cyp2b23	A	G	7: 26,380,821 (GRCm39)	F135L	probably benign	Het
Ddr2	A	T	1: 169,816,089 (GRCm39)	C539*	probably null	Het
Efna5	T	A	17: 62,914,458 (GRCm39)	D189V	probably damaging	Het
Endov	G	T	11: 119,390,675 (GRCm39)	V70F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem3	A	T	8: 81,340,026 (GRCm39)	H773L	probably benign	Het
Gm43302	T	A	5: 105,365,352 (GRCm39)	Q552L	possibly damaging	Het
Gramd1a	A	T	7: 30,833,908 (GRCm39)	W506R	probably damaging	Het
Hmcn1	C	T	1: 150,570,600 (GRCm39)	V2188I	possibly damaging	Het
Ifit1bl2	A	G	19: 34,597,458 (GRCm39)	F53L	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Krt16	A	G	11: 100,139,272 (GRCm39)	Y149H	probably damaging	Het
Krtap5-2	A	T	7: 141,728,742 (GRCm39)	C313S	unknown	Het
Mreg	A	G	1: 72,201,527 (GRCm39)	I155T	probably damaging	Het
Nans	T	C	4: 46,499,083 (GRCm39)	F130S	probably benign	Het
Nox4	T	C	7: 86,954,181 (GRCm39)		probably benign	Het
Or3a1d	C	A	11: 74,237,954 (GRCm39)	W32L	possibly damaging	Het
Or52ad1	A	T	7: 102,995,826 (GRCm39)	M103K	possibly damaging	Het
Or56a3	C	A	7: 104,740,309 (GRCm39)	C179F	probably damaging	Het
Or5k15	A	T	16: 58,709,976 (GRCm39)	Y202*	probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,784,497 (GRCm39)	T348A	probably benign	Het
Poteg	T	C	8: 27,940,020 (GRCm39)		probably null	Het
Prom1	T	G	5: 44,172,236 (GRCm39)	N585T	probably benign	Het
Rfc1	T	C	5: 65,434,769 (GRCm39)	S666G	probably null	Het
Rilp	A	G	11: 75,403,687 (GRCm39)		probably benign	Het
Serpina3i	A	G	12: 104,231,759 (GRCm39)	E132G	probably benign	Het
Serpina3m	T	C	12: 104,360,170 (GRCm39)	V414A	probably damaging	Het
Sfrp4	T	C	13: 19,807,868 (GRCm39)	F89S	probably damaging	Het
Stat5a	A	G	11: 100,772,900 (GRCm39)	H692R	probably benign	Het
Tex29	A	T	8: 11,904,279 (GRCm39)		probably benign	Het
Tmc5	T	A	7: 118,271,416 (GRCm39)	F910I	probably damaging	Het
Tusc3	G	A	8: 39,538,651 (GRCm39)	G230D	possibly damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Upb1	A	T	10: 75,264,105 (GRCm39)	I184F	probably damaging	Het
Vamp4	T	C	1: 162,401,932 (GRCm39)	F5L	possibly damaging	Het
Zfp583	C	A	7: 6,326,674 (GRCm39)	Q68H	probably damaging	Het
Zfp831	A	C	2: 174,487,200 (GRCm39)	H625P	probably benign	Het
Zfp941	G	A	7: 140,392,763 (GRCm39)		probably benign	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
IGL01983:Cyrib	APN	15	63,809,236 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAATTAAGGGACACAATCTC -3'
(R):5'- GCCTAATGAACATTCTCCCTGTTAC -3'

Sequencing Primer
(F):5'- CTCAGTCATGCAAAGCAG -3'
(R):5'- GGTACCTTAACATGGGGAA -3'

Posted On

2017-01-03