Mutagenetix > Incidental Mutations

Incidental Mutation 'R2385:Abra'

247686

Institutional Source

Beutler Lab

Gene Symbol

Abra

Ensembl Gene

ENSMUSG00000042895

Gene Name

actin-binding Rho activating protein

Synonyms

STARS, C130068O12Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R2385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41864076-41869720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41869353 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054742
AA Change: T106A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: T106A

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 49,979,566	I595N	possibly damaging	Het
Aox3	A	G	1: 58,138,289	E221G	probably damaging	Het
Arpc1a	T	A	5: 145,104,523		probably null	Het
Cd180	A	G	13: 102,705,183	T246A	probably benign	Het
Cep250	A	G	2: 155,974,341	E672G	probably damaging	Het
Cyp2d12	A	T	15: 82,558,495	I380F	probably benign	Het
Dock3	A	T	9: 106,991,125	D653E	probably damaging	Het
Fbxw22	A	G	9: 109,382,142	S364P	probably damaging	Het
Ift122	T	C	6: 115,912,522	Y823H	probably benign	Het
Kif20b	T	C	19: 34,959,419	S1365P	probably damaging	Het
Nol11	C	T	11: 107,189,206	G18R	probably benign	Het
Olfr1047	A	T	2: 86,228,473	L166*	probably null	Het
Pde8a	T	G	7: 81,282,992	M134R	probably benign	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Polr3gl	A	G	3: 96,578,546	F135L	probably damaging	Het
Sdr16c6	T	A	4: 4,062,671	I216F	probably damaging	Het
Slc23a2	T	C	2: 132,089,201	D126G	probably benign	Het
Snx13	A	T	12: 35,119,793	Y579F	probably benign	Het
Vcan	T	C	13: 89,689,449	T1699A	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
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
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'- TTTGGTCAGCTCAGACACC -3'
(R):5'- TCAATTTGGCCCGAGGTTGG -3'

Sequencing Primer
(F):5'- TCAGCTCAGACACCAGGTTG -3'
(R):5'- AAACAGGCCCAGGAGCCTG -3'

Posted On

2014-11-11