Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02406:Abra'

292085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abra

Ensembl Gene

ENSMUSG00000042895

Gene Name

actin-binding Rho activating protein

Synonyms

C130068O12Rik, STARS

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

IGL02406

Quality Score

Status

Chromosome

Chromosomal Location

41728689-41733116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41732583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 161 (V161E)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

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

AlphaFold

Q8BUZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054742
AA Change: V161E

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

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: V161E

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

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,139,825 (GRCm39)	A1496S	probably damaging	Het
Adcy4	G	A	14: 56,007,504 (GRCm39)	T942I	possibly damaging	Het
Atrip	A	G	9: 108,894,487 (GRCm39)	V480A	probably damaging	Het
Azin1	A	T	15: 38,491,809 (GRCm39)	D382E	probably benign	Het
BC034090	G	T	1: 155,100,899 (GRCm39)	A455E	probably benign	Het
Clstn1	A	G	4: 149,711,816 (GRCm39)	Y121C	probably damaging	Het
Cpq	T	A	15: 33,302,654 (GRCm39)	N268K	probably damaging	Het
Cpsf7	A	G	19: 10,509,352 (GRCm39)	S88G	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2j11	G	A	4: 96,236,776 (GRCm39)	A10V	possibly damaging	Het
Dock4	T	C	12: 40,827,206 (GRCm39)	V983A	probably benign	Het
Dspp	G	T	5: 104,325,232 (GRCm39)	E532*	probably null	Het
Ercc4	G	T	16: 12,941,400 (GRCm39)	D243Y	probably damaging	Het
Fars2	C	A	13: 36,594,145 (GRCm39)	D383E	probably benign	Het
Fip1l1	A	G	5: 74,725,205 (GRCm39)	T280A	probably benign	Het
Gcgr	T	G	11: 120,428,010 (GRCm39)	N292K	probably damaging	Het
Gtpbp4	T	A	13: 9,041,786 (GRCm39)	K85M	possibly damaging	Het
Jhy	A	G	9: 40,822,285 (GRCm39)	Y618H	probably damaging	Het
Mbd4	A	T	6: 115,825,986 (GRCm39)	I314N	possibly damaging	Het
Mbtd1	C	T	11: 93,799,684 (GRCm39)	T70M	probably damaging	Het
Mki67	T	C	7: 135,300,522 (GRCm39)	H1504R	probably benign	Het
Mks1	T	C	11: 87,753,611 (GRCm39)	V515A	probably benign	Het
Msantd2	G	T	9: 37,434,755 (GRCm39)	V332L	probably damaging	Het
Myrip	A	T	9: 120,296,598 (GRCm39)	T836S	probably benign	Het
Nbea	T	C	3: 55,993,687 (GRCm39)	I238V	probably benign	Het
Plekhh1	T	C	12: 79,115,783 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,488,399 (GRCm39)	N507S	probably benign	Het
Prss12	G	A	3: 123,299,123 (GRCm39)	V632I	possibly damaging	Het
Puf60	A	G	15: 75,946,458 (GRCm39)	S121P	probably damaging	Het
Raet1e	G	A	10: 22,056,535 (GRCm39)	C37Y	probably damaging	Het
Ralgps2	G	T	1: 156,655,838 (GRCm39)	A362E	possibly damaging	Het
Scn1a	A	G	2: 66,156,380 (GRCm39)	S510P	possibly damaging	Het
Skap2	A	C	6: 51,851,453 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,021,113 (GRCm39)	V54M	probably benign	Het
Spata17	A	G	1: 186,849,458 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,410,671 (GRCm39)	N128K	probably damaging	Het
Tatdn2	T	A	6: 113,681,174 (GRCm39)	S402R	probably benign	Het
Tmprss11f	A	G	5: 86,681,525 (GRCm39)	W243R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,709 (GRCm39)	Y155H	probably benign	Het
Vmn2r86	T	A	10: 130,284,508 (GRCm39)	T528S	possibly damaging	Het
Zfhx3	C	T	8: 109,682,374 (GRCm39)	A3271V	unknown	Het
Zkscan3	T	C	13: 21,572,348 (GRCm39)	N428S	possibly damaging	Het
Zxdc	A	G	6: 90,375,818 (GRCm39)	S765G	probably benign	Het

Other mutations in Abra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Abra	APN	15	41,729,413 (GRCm39)	missense	probably damaging	0.99
IGL02022:Abra	APN	15	41,732,802 (GRCm39)	missense	probably benign
IGL02370:Abra	APN	15	41,732,640 (GRCm39)	missense	probably damaging	1.00
R1860:Abra	UTSW	15	41,732,430 (GRCm39)	missense	probably damaging	1.00
R1861:Abra	UTSW	15	41,732,430 (GRCm39)	missense	probably damaging	1.00
R2385:Abra	UTSW	15	41,732,749 (GRCm39)	missense	probably damaging	0.97
R3718:Abra	UTSW	15	41,729,689 (GRCm39)	missense	probably benign
R4582:Abra	UTSW	15	41,732,681 (GRCm39)	missense	probably benign	0.16
R4621:Abra	UTSW	15	41,732,620 (GRCm39)	missense	probably benign	0.10
R4724:Abra	UTSW	15	41,729,302 (GRCm39)	missense	probably damaging	1.00
R5926:Abra	UTSW	15	41,729,650 (GRCm39)	missense	probably damaging	1.00
R6417:Abra	UTSW	15	41,729,452 (GRCm39)	missense	probably benign	0.01
R6649:Abra	UTSW	15	41,732,629 (GRCm39)	missense	probably benign
R7348:Abra	UTSW	15	41,729,555 (GRCm39)	missense	probably damaging	1.00
R7487:Abra	UTSW	15	41,732,949 (GRCm39)	missense	probably damaging	1.00
R7997:Abra	UTSW	15	41,729,593 (GRCm39)	missense	probably damaging	1.00
R8785:Abra	UTSW	15	41,729,656 (GRCm39)	missense	probably damaging	0.99
R9171:Abra	UTSW	15	41,732,512 (GRCm39)	missense	possibly damaging	0.92
RF053:Abra	UTSW	15	41,729,695 (GRCm39)	small deletion	probably benign

Posted On

2015-04-16