Mutagenetix > Incidental Mutation

Incidental Mutation 'R9490:Cyria'

716900

Institutional Source

Beutler Lab

Gene Symbol

Cyria

Ensembl Gene

ENSMUSG00000020589

Gene Name

CYFIP related Rac1 interactor A

Synonyms

Fam49a, D12Ertd553e, 2410157M17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

R9490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12312140-12430966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12390727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000068125 (fasta)

Gene Model

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

AlphaFold

Q8BHZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000069005
AA Change: E13G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: E13G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069066
AA Change: E13G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: E13G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223061
AA Change: E13G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,834,601 (GRCm39)	D167G	probably benign	Het
Arhgef37	G	T	18: 61,641,907 (GRCm39)	P154Q	probably damaging	Het
Chsy3	A	T	18: 59,312,486 (GRCm39)	S320C	probably damaging	Het
Col1a2	C	A	6: 4,505,901 (GRCm39)	T21K	unknown	Het
Ctcfl	A	T	2: 172,960,548 (GRCm39)	Y12N	probably benign	Het
Disp1	A	G	1: 182,871,092 (GRCm39)	Y443H	probably benign	Het
Dock2	T	A	11: 34,589,582 (GRCm39)	T492S	possibly damaging	Het
Edil3	G	A	13: 89,347,591 (GRCm39)	C382Y	probably benign	Het
Fancd2	A	G	6: 113,555,416 (GRCm39)	K1142E	probably damaging	Het
Fibcd1	T	A	2: 31,723,815 (GRCm39)	T275S	possibly damaging	Het
Fstl5	T	C	3: 76,615,060 (GRCm39)	V707A	possibly damaging	Het
Gm7298	G	A	6: 121,751,083 (GRCm39)	R720H	probably benign	Het
Hivep1	A	T	13: 42,311,518 (GRCm39)	T1253S	probably damaging	Het
Kif15	A	G	9: 122,788,203 (GRCm39)	N14S	probably benign	Het
Ldhc	G	A	7: 46,519,184 (GRCm39)	V136I	probably damaging	Het
Madd	T	C	2: 91,008,501 (GRCm39)	S134G	probably benign	Het
Map3k5	T	C	10: 20,007,797 (GRCm39)	S1209P	probably benign	Het
Mapre2	A	G	18: 23,986,764 (GRCm39)	K101E	possibly damaging	Het
Muc16	T	A	9: 18,568,149 (GRCm39)	R1457*	probably null	Het
Muc5b	T	C	7: 141,425,497 (GRCm39)	V4714A	probably benign	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Phkb	T	C	8: 86,628,525 (GRCm39)	F170S	probably damaging	Het
Pip5kl1	C	T	2: 32,466,667 (GRCm39)	P12L	probably benign	Het
Pramel14	T	A	4: 143,719,606 (GRCm39)	N253I	probably benign	Het
Prmt2	G	A	10: 76,053,227 (GRCm39)	P263S	probably damaging	Het
Rab44	C	T	17: 29,354,065 (GRCm39)		probably benign	Het
Rad9a	C	T	19: 4,247,547 (GRCm39)	G200R	probably damaging	Het
Ralgapb	A	G	2: 158,334,350 (GRCm39)	T1354A	probably benign	Het
Rere	A	G	4: 150,516,040 (GRCm39)	D111G	probably benign	Het
Rnase2b	A	T	14: 51,400,284 (GRCm39)	T122S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a2	C	G	18: 61,331,881 (GRCm39)	V517L	probably benign	Het
Spock2	A	G	10: 59,961,641 (GRCm39)	K195R	probably benign	Het
Tgm7	T	A	2: 120,928,867 (GRCm39)	D343V	probably damaging	Het
Tmf1	T	C	6: 97,137,227 (GRCm39)	T910A	probably benign	Het
Ttc3	T	C	16: 94,245,360 (GRCm39)	V1457A	probably benign	Het
Wdfy3	A	G	5: 102,078,716 (GRCm39)	V862A	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
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
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'- GTTCTTCAGAGGCCTGTGAC -3'
(R):5'- ATGGTTCAGGAACAATGTCAGG -3'

Sequencing Primer
(F):5'- GTGACACACACTTCCATCGCTG -3'
(R):5'- TCAGGAAGAAATAAATGCATAAGACC -3'

Posted On

2022-07-18