Mutagenetix > Incidental Mutations

Incidental Mutation 'R5926:Abra'

459916

Institutional Source

Beutler Lab

Gene Symbol

Abra

Ensembl Gene

ENSMUSG00000042895

Gene Name

actin-binding Rho activating protein

Synonyms

STARS, C130068O12Rik

MMRRC Submission

044121-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41864076-41869720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41866254 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 250 (H250L)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054742
AA Change: H250L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: H250L

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,560,645	Y701F	probably benign	Het
Acer2	T	C	4: 86,874,568	V27A	probably benign	Het
Arhgef15	A	G	11: 68,951,955	L343S	possibly damaging	Het
Arnt2	G	T	7: 84,343,946	H129N	probably damaging	Het
Atp9a	T	A	2: 168,706,271	Y63F	probably damaging	Het
Brca2	A	G	5: 150,534,622	T213A	probably benign	Het
Cdk5r1	T	C	11: 80,478,302		probably null	Het
Cyb5r4	C	T	9: 87,057,261	L366F	probably benign	Het
Cyp20a1	T	A	1: 60,363,242	I162K	possibly damaging	Het
Dcaf1	T	C	9: 106,838,362	V226A	probably benign	Het
Ddx41	A	T	13: 55,534,299	M232K	probably damaging	Het
Dnm1	C	T	2: 32,315,804	V99I	probably benign	Het
Doc2a	T	C	7: 126,849,525	V134A	probably damaging	Het
Ghdc	C	T	11: 100,768,237	V380M	possibly damaging	Het
Gldn	A	G	9: 54,338,438	I424M	possibly damaging	Het
Haus6	A	T	4: 86,599,316	H270Q	probably benign	Het
Hfe	A	T	13: 23,708,264	M39K	probably damaging	Het
Jakmip1	C	T	5: 37,085,280		probably benign	Het
Kcnb2	A	G	1: 15,313,011	N187S	probably benign	Het
Kcnd2	A	G	6: 21,217,085	S263G	probably damaging	Het
Kcnh1	A	G	1: 192,413,077	N481S	probably benign	Het
Kcnn2	A	G	18: 45,685,284	I343V	probably benign	Het
L3hypdh	T	A	12: 72,077,185	S300C	probably damaging	Het
Lrit1	T	A	14: 37,055,009	C29S	probably damaging	Het
Mark3	T	A	12: 111,592,734	V70E	probably damaging	Het
Med16	C	T	10: 79,902,528	V319M	probably damaging	Het
Mindy3	T	C	2: 12,348,100	Y430C	probably damaging	Het
Mup5	A	T	4: 61,833,049	F121I	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Notch1	A	G	2: 26,476,104	Y813H	probably benign	Het
Olfr1415	A	T	1: 92,491,566	L63Q	probably damaging	Het
Olfr473	T	C	7: 107,933,903	S128P	probably damaging	Het
Olfr512	T	C	7: 108,713,587	L66S	probably damaging	Het
Pi4kb	A	G	3: 94,998,996	Y301C	probably damaging	Het
Ptch1	A	G	13: 63,545,055	S244P	probably benign	Het
Ptprn	G	A	1: 75,254,598	T554I	probably damaging	Het
Ptprt	T	C	2: 161,564,686	I969V	probably benign	Het
Raf1	T	C	6: 115,619,898	M519V	probably benign	Het
Ryr1	A	G	7: 29,104,360	V622A	probably damaging	Het
Spaca4	G	T	7: 45,725,295	H94Q	probably benign	Het
Spata31	A	G	13: 64,920,725	D229G	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Trpm8	T	A	1: 88,330,747	Y251N	probably damaging	Het
Vps16	T	A	2: 130,443,556	N806K	probably damaging	Het
Vwf	T	C	6: 125,604,174	F592L	probably damaging	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
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'- AACCTGGATCTTGCCATCTCG -3'
(R):5'- ACTACACATGGGAAGTACACG -3'

Sequencing Primer
(F):5'- CGAGCCATTGTGCGGATAAC -3'
(R):5'- CATGGGAAGTACACGGGGTCC -3'

Posted On

2017-02-28