Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Cyria'

619725

Institutional Source

Beutler Lab

Gene Symbol

Cyria

Ensembl Gene

ENSMUSG00000020589

Gene Name

CYFIP related Rac1 interactor A

Synonyms

Fam49a, D12Ertd553e, 2410157M17Rik

MMRRC Submission

067497-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12312140-12430966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12412028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 150 (A150S)

Ref Sequence

ENSEMBL: ENSMUSP00000068125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069005] [ENSMUST00000069066] [ENSMUST00000223061]

AlphaFold

Q8BHZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069005
AA Change: A150S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: A150S

Domain	Start	End	E-Value	Type
Pfam:DUF1394	17	319	2.1e-150	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069066
AA Change: A150S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: A150S

Domain	Start	End	E-Value	Type
Pfam:DUF1394	15	319	1.9e-180	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223061
AA Change: A150S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	G	A	5: 115,255,710 (GRCm39)	R42C	probably benign	Het
Agrn	G	A	4: 156,263,411 (GRCm39)	R338C	probably damaging	Het
Anapc1	T	C	2: 128,490,408 (GRCm39)	E1008G	probably damaging	Het
Art5	A	T	7: 101,747,456 (GRCm39)	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,728,982 (GRCm39)	C369Y	probably damaging	Het
Asb3	A	G	11: 30,948,447 (GRCm39)	N41S	probably damaging	Het
Astn1	G	A	1: 158,331,920 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,300 (GRCm39)	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,853,527 (GRCm39)		probably benign	Het
Cfap300	A	G	9: 8,042,672 (GRCm39)	W37R	probably damaging	Het
Chrm1	T	C	19: 8,656,518 (GRCm39)	Y408H	possibly damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cnot1	A	G	8: 96,491,655 (GRCm39)	F390L	possibly damaging	Het
Comt	T	C	16: 18,230,040 (GRCm39)	Y100C	probably benign	Het
Dclk2	T	C	3: 86,720,981 (GRCm39)		probably benign	Het
Dicer1	G	A	12: 104,669,077 (GRCm39)	Q1202*	probably null	Het
Disp1	C	T	1: 182,869,151 (GRCm39)	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,414,058 (GRCm39)	D62G	possibly damaging	Het
Dock1	C	T	7: 134,374,052 (GRCm39)	T566I	probably benign	Het
Dop1a	T	G	9: 86,403,246 (GRCm39)	M18R	possibly damaging	Het
Dop1b	T	C	16: 93,546,884 (GRCm39)	L296P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	A	T	11: 104,997,275 (GRCm39)	D155V	probably benign	Het
Ehmt2	T	C	17: 35,124,903 (GRCm39)	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,180,725 (GRCm39)	W301*	probably null	Het
Fpgt	A	G	3: 154,792,903 (GRCm39)	S375P	probably benign	Het
Gas2l1	G	A	11: 5,011,785 (GRCm39)	S348F	possibly damaging	Het
Gen1	A	T	12: 11,311,077 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,751,851 (GRCm39)	C1412S	probably damaging	Het
Iqcn	A	G	8: 71,161,224 (GRCm39)	E139G	probably benign	Het
Klhl2	A	C	8: 65,211,257 (GRCm39)	L264V	probably damaging	Het
Lars2	A	G	9: 123,288,562 (GRCm39)	T803A	probably benign	Het
Ldb2	T	A	5: 44,637,612 (GRCm39)	K232M	probably damaging	Het
Lix1	G	A	17: 17,663,938 (GRCm39)	R92Q	probably damaging	Het
Meig1	C	T	2: 3,410,240 (GRCm39)	V87I	not run	Het
Mitf	A	C	6: 97,970,259 (GRCm39)	S176R	probably damaging	Het
Myh7	A	G	14: 55,228,398 (GRCm39)	V236A	probably benign	Het
Myo5a	T	A	9: 75,030,239 (GRCm39)	Y119*	probably null	Het
Ncapg2	A	G	12: 116,390,197 (GRCm39)	N382S	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,792 (GRCm39)	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,256,461 (GRCm39)	R454Q	probably benign	Het
Panx1	A	G	9: 14,956,297 (GRCm39)	S13P	possibly damaging	Het
Pde2a	A	G	7: 101,153,179 (GRCm39)	D413G	probably benign	Het
Plcb1	A	T	2: 135,188,316 (GRCm39)	Y803F	probably benign	Het
Prrc2a	T	C	17: 35,380,162 (GRCm39)		probably benign	Het
Pth2r	T	A	1: 65,382,660 (GRCm39)	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,619,330 (GRCm39)		probably null	Het
Rapgef3	T	C	15: 97,659,401 (GRCm39)	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492 (GRCm39)	N907S	probably damaging	Het
Scn7a	T	A	2: 66,522,938 (GRCm39)	N922I	probably damaging	Het
Shprh	T	C	10: 11,088,077 (GRCm39)	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,018,361 (GRCm39)	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,965,419 (GRCm39)	I63M	probably damaging	Het
Smg1	A	T	7: 117,751,610 (GRCm39)	V2817E	unknown	Het
Sprr3	T	C	3: 92,364,184 (GRCm39)	E220G	probably damaging	Het
Tcf21	T	C	10: 22,695,762 (GRCm39)	E14G	probably benign	Het
Tenm4	A	G	7: 96,501,663 (GRCm39)	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,469,064 (GRCm39)	G551V	probably damaging	Het
Tpk1	A	G	6: 43,323,778 (GRCm39)	S224P	probably damaging	Het
Trib1	T	C	15: 59,523,404 (GRCm39)	I146T	probably damaging	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het
Vcan	T	A	13: 89,805,409 (GRCm39)	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,579,453 (GRCm39)	Y85*	probably null	Het
Vps39	T	C	2: 120,174,692 (GRCm39)	I97V	probably benign	Het
Zan	T	A	5: 137,434,893 (GRCm39)	I2167F	unknown	Het
Zfp37	A	T	4: 62,109,665 (GRCm39)	Y507*	probably null	Het
Zfp39	A	G	11: 58,793,573 (GRCm39)	V55A	probably benign	Het
Zfp616	A	T	11: 73,974,340 (GRCm39)	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,768,208 (GRCm39)	T674A	probably benign	Het

Other mutations in Cyria

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Cyria	APN	12	12,409,235 (GRCm39)	missense	probably benign
IGL01614:Cyria	APN	12	12,411,574 (GRCm39)	critical splice donor site	probably null
IGL02313:Cyria	APN	12	12,414,752 (GRCm39)	missense	possibly damaging	0.93
R0129:Cyria	UTSW	12	12,412,350 (GRCm39)	missense	probably damaging	0.99
R1807:Cyria	UTSW	12	12,411,505 (GRCm39)	missense	probably benign	0.01
R2017:Cyria	UTSW	12	12,412,362 (GRCm39)	missense	probably damaging	1.00
R3893:Cyria	UTSW	12	12,412,526 (GRCm39)	missense	probably benign	0.21
R5816:Cyria	UTSW	12	12,408,166 (GRCm39)	missense	probably benign	0.33
R7169:Cyria	UTSW	12	12,409,233 (GRCm39)	missense	possibly damaging	0.81
R7363:Cyria	UTSW	12	12,390,665 (GRCm39)	splice site	probably null
R7522:Cyria	UTSW	12	12,408,057 (GRCm39)	missense	possibly damaging	0.93
R7877:Cyria	UTSW	12	12,414,798 (GRCm39)	missense	probably benign	0.37
R9048:Cyria	UTSW	12	12,412,286 (GRCm39)	missense	probably damaging	1.00
R9490:Cyria	UTSW	12	12,390,727 (GRCm39)	missense	probably benign
RF015:Cyria	UTSW	12	12,419,939 (GRCm39)	missense	probably benign
X0017:Cyria	UTSW	12	12,412,070 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTACATATTTCAGAACACTGGCG -3'
(R):5'- AGAGGGACATTCGATTGGCC -3'

Sequencing Primer
(F):5'- GAACACTGGCGTTATAAGCTC -3'
(R):5'- GGACATTCGATTGGCCATCTC -3'

Posted On

2020-01-23