Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Cyria'

287896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyria

Ensembl Gene

ENSMUSG00000020589

Gene Name

CYFIP related Rac1 interactor A

Synonyms

Fam49a, D12Ertd553e, 2410157M17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

12312140-12430966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12414752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 248 (T248A)

Ref Sequence

ENSEMBL: ENSMUSP00000152252 (fasta)

Gene Model

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

AlphaFold

Q8BHZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069005
AA Change: T248A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: T248A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069066
AA Change: T248A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: T248A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220545

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223061
AA Change: T248A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly damaging	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
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
R8061:Cyria	UTSW	12	12,412,028 (GRCm39)	missense	possibly damaging	0.55
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

Posted On

2015-04-16