Mutagenetix > Incidental Mutation

Incidental Mutation 'R5484:Cyrib'

430336

Institutional Source

Beutler Lab

Gene Symbol

Cyrib

Ensembl Gene

ENSMUSG00000022378

Gene Name

CYFIP related Rac1 interactor B

Synonyms

0910001A06Rik, Fam49b

MMRRC Submission

043045-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63800946-63932327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63815056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 139 (T139S)

Ref Sequence

ENSEMBL: ENSMUSP00000154320 (fasta)

Gene Model

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

AlphaFold

Q921M7

Predicted Effect

probably damaging
Transcript: ENSMUST00000063838
AA Change: T139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378
AA Change: T139S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164532
AA Change: T139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378
AA Change: T139S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226675

Predicted Effect

probably benign
Transcript: ENSMUST00000227024

Predicted Effect

probably damaging
Transcript: ENSMUST00000228226
AA Change: T139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228908
AA Change: T139S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.4742

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,313,851 (GRCm39)	H609R	probably benign	Het
Abca6	A	T	11: 110,074,899 (GRCm39)	V1388E	probably damaging	Het
Alx1	T	A	10: 102,861,177 (GRCm39)	D117V	probably damaging	Het
Ascl4	T	C	10: 85,764,401 (GRCm39)	L16P	probably damaging	Het
Atp4a	G	A	7: 30,420,097 (GRCm39)		probably benign	Het
Btnl10	G	A	11: 58,814,651 (GRCm39)	V444M	probably damaging	Het
Camkv	A	T	9: 107,823,345 (GRCm39)	N124Y	probably damaging	Het
Catsperb	T	C	12: 101,542,175 (GRCm39)	L625P	probably benign	Het
Ccdc171	A	G	4: 83,612,199 (GRCm39)	I973V	probably benign	Het
Celsr1	T	C	15: 85,815,483 (GRCm39)	D1844G	probably benign	Het
Chd7	G	C	4: 8,828,258 (GRCm39)	K1066N	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Corin	T	C	5: 72,515,827 (GRCm39)	D409G	probably benign	Het
Cry1	T	C	10: 84,982,588 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,427,689 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,022,531 (GRCm39)	V1623E	probably damaging	Het
Dnah6	G	T	6: 73,069,099 (GRCm39)	D2477E	possibly damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dop1a	C	G	9: 86,427,341 (GRCm39)	R2164G	probably damaging	Het
Dsp	A	G	13: 38,368,014 (GRCm39)	T678A	possibly damaging	Het
Farsb	A	C	1: 78,452,833 (GRCm39)	I51S	probably damaging	Het
Gm10220	T	A	5: 26,322,930 (GRCm39)	I161L	possibly damaging	Het
Gm10782	G	T	13: 56,510,987 (GRCm39)		noncoding transcript	Het
Gm12830	A	T	4: 114,702,248 (GRCm39)	T137S	unknown	Het
Gopc	A	G	10: 52,234,942 (GRCm39)	L67P	probably damaging	Het
Hmcn1	T	C	1: 150,551,291 (GRCm39)	I2655V	probably benign	Het
Hmcn2	C	T	2: 31,283,066 (GRCm39)	Q1981*	probably null	Het
Ifi209	T	A	1: 173,468,640 (GRCm39)	S157T	probably benign	Het
Ift56	T	G	6: 38,366,057 (GRCm39)	C124W	probably benign	Het
Iqcf1	A	T	9: 106,379,107 (GRCm39)	I74F	probably damaging	Het
Irf3	A	T	7: 44,649,382 (GRCm39)	R78W	probably damaging	Het
Kank4	T	C	4: 98,663,022 (GRCm39)	D722G	probably benign	Het
Loxl1	A	G	9: 58,198,065 (GRCm39)	V597A	possibly damaging	Het
Marveld1	T	C	19: 42,136,272 (GRCm39)	L62P	probably damaging	Het
Mga	T	G	2: 119,747,107 (GRCm39)	D419E	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mroh2b	A	G	15: 4,938,463 (GRCm39)	K251E	possibly damaging	Het
Myh4	A	G	11: 67,142,644 (GRCm39)	E935G	probably damaging	Het
Nat8f2	C	A	6: 85,844,994 (GRCm39)	A123S	possibly damaging	Het
Niban1	A	G	1: 151,593,837 (GRCm39)	T841A	probably benign	Het
Or4d11	G	A	19: 12,013,192 (GRCm39)	L305F	probably benign	Het
Pcdha9	T	A	18: 37,131,156 (GRCm39)	V75E	probably damaging	Het
Pebp4	A	T	14: 70,200,991 (GRCm39)		probably null	Het
Pitx1	A	G	13: 55,974,166 (GRCm39)	S222P	probably benign	Het
Plekhg3	G	A	12: 76,625,174 (GRCm39)	V1339M	possibly damaging	Het
Plekhs1	C	T	19: 56,468,260 (GRCm39)	S276L	possibly damaging	Het
Plin4	T	C	17: 56,411,932 (GRCm39)	T700A	possibly damaging	Het
Plxnb2	T	C	15: 89,048,412 (GRCm39)		probably null	Het
Pms2	T	C	5: 143,864,943 (GRCm39)	I675T	probably damaging	Het
Polrmt	A	G	10: 79,577,888 (GRCm39)	L268P	probably damaging	Het
Rtp1	A	G	16: 23,248,025 (GRCm39)	T33A	probably benign	Het
Safb2	T	C	17: 56,882,346 (GRCm39)		probably benign	Het
Sdk1	C	A	5: 142,085,941 (GRCm39)	P1383Q	probably damaging	Het
Setdb1	A	T	3: 95,244,569 (GRCm39)	C758S	probably damaging	Het
Sh3gl2	T	C	4: 85,317,160 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,295,648 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,278,631 (GRCm39)	Y126H	probably damaging	Het
Strip2	C	A	6: 29,917,154 (GRCm39)		probably benign	Het
Tbx4	A	G	11: 85,805,230 (GRCm39)	T440A	probably damaging	Het
Tcf7l2	C	A	19: 55,907,940 (GRCm39)		probably null	Het
Tgfb1	A	C	7: 25,387,574 (GRCm39)	D94A	probably benign	Het
Tmem132b	T	C	5: 125,864,797 (GRCm39)	C968R	probably damaging	Het
Tmem176b	T	A	6: 48,811,467 (GRCm39)	M61L	probably benign	Het
Tmem258	A	G	19: 10,184,689 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,302,639 (GRCm39)	L1379S	probably benign	Het
Vmn2r44	T	C	7: 8,383,123 (GRCm39)	D157G	possibly damaging	Het
Wfdc8	T	C	2: 164,439,649 (GRCm39)	I244M	probably benign	Het
Zfp341	T	C	2: 154,466,921 (GRCm39)	S97P	probably benign	Het
Zfp655	T	C	5: 145,180,445 (GRCm39)	V101A	probably benign	Het
Zfp788	T	C	7: 41,299,277 (GRCm39)	S586P	probably damaging	Het
Zfp874b	C	T	13: 67,629,373 (GRCm39)	V52I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACACCAACTCCTGTGGAC -3'
(R):5'- TCTTGGTTCCAGAGGGAGAG -3'

Sequencing Primer
(F):5'- ACTTGGCTGGCTGTCATTTCAAAAG -3'
(R):5'- CCAGAGGGAGAGTGTGTGCATC -3'

Posted On

2016-10-05