Mutagenetix > Incidental Mutations

Incidental Mutation 'R4582:Abra'

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343756

Institutional Source

Beutler Lab

Gene Symbol

Abra

Ensembl Gene

ENSMUSG00000042895

Gene Name

actin-binding Rho activating protein

Synonyms

STARS, C130068O12Rik

MMRRC Submission

041803-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41864076-41869720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41869285 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 128 (D128E)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054742]

Predicted Effect

probably benign
Transcript: ENSMUST00000054742
AA Change: D128E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: D128E

Domain	Start	End	E-Value	Type
Costars	298	374	6.22e-45	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,511,929	V1006E	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021	N95K	probably damaging	Het
Brd9	T	C	13: 73,947,733	F366L	probably benign	Het
Brinp2	A	G	1: 158,267,938	F118L	probably damaging	Het
Ccdc138	T	C	10: 58,507,643		probably null	Het
Celsr3	T	C	9: 108,845,723	F189L	probably damaging	Het
Cfap45	A	G	1: 172,529,912	T36A	probably benign	Het
Clec4a1	G	T	6: 122,932,191	V173L	possibly damaging	Het
Col6a5	G	A	9: 105,862,764	T2552I	probably benign	Het
Dcaf15	A	G	8: 84,097,969	V533A	probably damaging	Het
Dhrs9	A	T	2: 69,397,653	I204F	probably damaging	Het
Dock7	A	G	4: 99,003,916	V811A	possibly damaging	Het
Eef1akmt1	T	C	14: 57,550,448	D151G	probably damaging	Het
Eif4g3	G	A	4: 138,171,245	R1109H	probably damaging	Het
Gtpbp10	T	C	5: 5,542,395	T191A	possibly damaging	Het
Hectd4	A	G	5: 121,286,419	N714S	possibly damaging	Het
Lima1	T	C	15: 99,780,992	T523A	possibly damaging	Het
Lipe	A	G	7: 25,397,702	L272P	probably benign	Het
Llgl2	A	G	11: 115,850,706	E554G	possibly damaging	Het
Lrrc66	T	C	5: 73,608,237	S488G	possibly damaging	Het
Man2a1	C	T	17: 64,752,499	A1127V	probably benign	Het
Naglu	A	T	11: 101,071,929	I187F	probably damaging	Het
Nt5c1b	T	A	12: 10,390,054	M548K	probably damaging	Het
Olfr1338	A	T	4: 118,753,893	I217N	probably damaging	Het
Olfr768	A	T	10: 129,093,158	V272E	possibly damaging	Het
Pcdha3	T	C	18: 36,947,432	V409A	probably benign	Het
Pde6b	A	T	5: 108,425,231		probably null	Het
Pkd2	A	T	5: 104,502,344	K857*	probably null	Het
Rfx4	T	A	10: 84,844,300	S114T	possibly damaging	Het
Sacs	G	A	14: 61,191,698	G402D	probably damaging	Het
Slc22a5	C	T	11: 53,891,209	E111K	probably damaging	Het
Sptbn1	G	A	11: 30,219,597	R44C	probably damaging	Het
Taf1	T	C	X: 101,593,995	V1696A	possibly damaging	Het
Tm9sf3	C	A	19: 41,256,166	G91C	probably damaging	Het
Tmie	T	G	9: 110,873,797	E32A	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tsga13	A	T	6: 30,902,363	N138K	probably benign	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ugt1a10	A	T	1: 88,055,741	D87V	possibly damaging	Het
Vdac3-ps1	A	T	13: 18,031,592		noncoding transcript	Het
Vmn1r29	A	C	6: 58,308,032	I246L	probably damaging	Het
Zbtb16	A	G	9: 48,832,082	V310A	probably benign	Het

Other mutations in Abra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Abra	APN	15	41866017	missense	probably damaging	0.99
IGL02022:Abra	APN	15	41869406	missense	probably benign
IGL02370:Abra	APN	15	41869244	missense	probably damaging	1.00
IGL02406:Abra	APN	15	41869187	missense	probably damaging	1.00
R1860:Abra	UTSW	15	41869034	missense	probably damaging	1.00
R1861:Abra	UTSW	15	41869034	missense	probably damaging	1.00
R2385:Abra	UTSW	15	41869353	missense	probably damaging	0.97
R3718:Abra	UTSW	15	41866293	missense	probably benign
R4621:Abra	UTSW	15	41869224	missense	probably benign	0.10
R4724:Abra	UTSW	15	41865906	missense	probably damaging	1.00
R5926:Abra	UTSW	15	41866254	missense	probably damaging	1.00
R6417:Abra	UTSW	15	41866056	missense	probably benign	0.01
R6649:Abra	UTSW	15	41869233	missense	probably benign
R7348:Abra	UTSW	15	41866159	missense	probably damaging	1.00
R7487:Abra	UTSW	15	41869553	missense	probably damaging	1.00
R7997:Abra	UTSW	15	41866197	missense	probably damaging	1.00
RF053:Abra	UTSW	15	41866299	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTTACTGGGAGAGCAAGG -3'
(R):5'- AACGCTCCTAAAGAAGCCGG -3'

Sequencing Primer
(F):5'- ACAGGCGCTGCATCTTG -3'
(R):5'- GCTCCTAAAGAAGCCGGTCCTTAC -3'

Posted On

2015-09-24