Mutagenetix > Incidental Mutations

Incidental Mutation 'R7997:Abra'

616159

Institutional Source

Beutler Lab

Gene Symbol

Abra

Ensembl Gene

ENSMUSG00000042895

Gene Name

actin-binding Rho activating protein

Synonyms

STARS, C130068O12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R7997 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41864076-41869720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41866197 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 269 (M269R)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054742
AA Change: M269R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: M269R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,525,360	T198A	probably benign	Het
1700024B05Rik	G	A	14: 41,944,252		probably benign	Het
Atp6v0e2	A	G	6: 48,537,784	I12V	probably benign	Het
Bicral	T	A	17: 46,801,608	I889F	probably benign	Het
Cabin1	A	G	10: 75,733,775	V826A	probably benign	Het
Casq2	A	T	3: 102,086,842	K68N	probably damaging	Het
Cdh23	C	A	10: 60,596,739	Q135H	possibly damaging	Het
Chn2	A	T	6: 54,290,285	H253L	probably damaging	Het
Dnajc22	A	G	15: 99,101,633	E233G	probably damaging	Het
Fbxo6	A	G	4: 148,147,395	S96P	possibly damaging	Het
Gimap6	G	T	6: 48,702,315	N262K	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C	probably damaging	Het
Grid2	C	A	6: 64,320,136	H494Q	possibly damaging	Het
Hmgcl	T	A	4: 135,960,009	Y198*	probably null	Het
Hmgxb4	A	T	8: 75,001,328	Y313F	probably damaging	Het
Hr	G	A	14: 70,563,603	W676*	probably null	Het
Insc	A	G	7: 114,845,137	D453G	probably damaging	Het
Iqub	T	C	6: 24,501,414	N179S	possibly damaging	Het
Kdm3b	T	A	18: 34,808,283	S276T	probably benign	Het
Kmt2a	C	A	9: 44,833,923	K1597N	unknown	Het
Kntc1	T	C	5: 123,778,054	V682A	probably damaging	Het
Mcm9	T	A	10: 53,597,406		probably benign	Het
Med30	T	C	15: 52,730,071	L149P	probably damaging	Het
Mmd2	T	A	5: 142,574,860	H102L	possibly damaging	Het
Mybph	G	A	1: 134,194,667	R150H	probably damaging	Het
Ndufaf4	A	G	4: 24,901,919	T156A	probably benign	Het
Olfr123	T	A	17: 37,796,162	C239*	probably null	Het
Pecr	T	A	1: 72,276,316	K92*	probably null	Het
Pithd1	T	C	4: 135,976,412	T207A	probably benign	Het
Prdm10	T	A	9: 31,353,425	C719S	probably damaging	Het
Rasef	C	A	4: 73,740,562	W316L	possibly damaging	Het
Robo1	T	C	16: 72,904,693	V149A	probably damaging	Het
Ryr1	A	T	7: 29,003,543	V5034D	unknown	Het
Slc26a10	A	G	10: 127,173,309	V661A	possibly damaging	Het
Slc30a8	T	G	15: 52,325,685	I232S	possibly damaging	Het
Smg1	A	G	7: 118,173,141	F1464L	unknown	Het
Smg1	A	C	7: 118,173,142	H1463Q	unknown	Het
Spata1	G	A	3: 146,476,280	A245V	probably benign	Het
St8sia1	C	T	6: 142,963,650	C40Y	probably damaging	Het
Strn	T	C	17: 78,684,243	T216A	probably benign	Het
Tecpr2	G	A	12: 110,933,603	E802K	probably benign	Het
Tenm4	A	G	7: 96,874,305	I1685V	probably benign	Het
Tyw5	T	C	1: 57,388,524	D307G	probably benign	Het
Usp17le	A	T	7: 104,768,839	D365E	possibly damaging	Het
Vmn1r13	T	G	6: 57,210,344	S163A	possibly damaging	Het
Vmn1r75	A	T	7: 11,880,673	T111S	probably damaging	Het
Wdr95	G	T	5: 149,579,157		probably null	Het
Zfp292	G	A	4: 34,808,688	P1457L	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het
Zfp606	T	C	7: 12,494,207	S752P	possibly damaging	Het
Zscan29	T	G	2: 121,160,740	S856R	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
R4582:Abra	UTSW	15	41869285	missense	probably benign	0.16
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
RF053:Abra	UTSW	15	41866299	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCTGGATCTTGCCATCTC -3'
(R):5'- ACTACACATGGGAAGTACACG -3'

Sequencing Primer
(F):5'- ATCTCGTCTGTGGCGAGC -3'
(R):5'- GGTCCGGCACTTGCTTCATG -3'

Posted On

2020-01-23