Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01512:Abra'

89266

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 #

IGL01512

Quality Score

Status

Chromosome

Chromosomal Location

41728689-41733116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41729413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022918] [ENSMUST00000054742] [ENSMUST00000090095] [ENSMUST00000090096] [ENSMUST00000110297] [ENSMUST00000170127] [ENSMUST00000179393] [ENSMUST00000230203]

AlphaFold

Q8BUZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000022918

SMART Domains

Protein: ENSMUSP00000022918
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	11	54	2.48e-9	SMART
low complexity region	113	120	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
TLDc	616	778	1.05e-80	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000054742
AA Change: E329G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: E329G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090095

SMART Domains

Protein: ENSMUSP00000087553
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	11	54	2.48e-9	SMART
low complexity region	113	120	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
TLDc	589	751	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090096

SMART Domains

Protein: ENSMUSP00000087554
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	11	54	2.48e-9	SMART
low complexity region	113	120	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
TLDc	589	751	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110297

SMART Domains

Protein: ENSMUSP00000105926
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
LysM	99	142	2.48e-9	SMART
low complexity region	201	208	N/A	INTRINSIC
low complexity region	628	645	N/A	INTRINSIC
TLDc	704	866	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170127

SMART Domains

Protein: ENSMUSP00000126266
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	92	135	2.48e-9	SMART
low complexity region	194	201	N/A	INTRINSIC
low complexity region	621	638	N/A	INTRINSIC
TLDc	670	832	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179393

SMART Domains

Protein: ENSMUSP00000136923
Gene: ENSMUSG00000022307

Domain	Start	End	E-Value	Type
LysM	11	54	2.48e-9	SMART
low complexity region	113	120	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
TLDc	589	751	1.05e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000230203

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,208,649 (GRCm39)	I223V	probably benign	Het
Ahsa2	C	T	11: 23,441,582 (GRCm39)	A163T	probably benign	Het
Atxn1	T	C	13: 45,720,077 (GRCm39)	Q606R	probably damaging	Het
Fads1	T	A	19: 10,160,506 (GRCm39)	S31T	probably benign	Het
Il6st	T	A	13: 112,640,900 (GRCm39)	M831K	probably benign	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Megf6	G	A	4: 154,347,040 (GRCm39)	R755Q	possibly damaging	Het
Ndn	T	G	7: 61,998,481 (GRCm39)	L109R	probably damaging	Het
Or2b4	T	G	17: 38,116,503 (GRCm39)	S156A	probably damaging	Het
Or4c52	A	G	2: 89,845,636 (GRCm39)	I121V	probably damaging	Het
Psmd6	T	C	14: 14,114,237 (GRCm38)	Y294C	probably damaging	Het
Serpina6	A	G	12: 103,620,318 (GRCm39)	Y144H	probably damaging	Het
Top3b	T	C	16: 16,709,286 (GRCm39)	I68T	possibly damaging	Het
Trav6d-4	G	A	14: 52,990,870 (GRCm39)	V6I	probably benign	Het
Utp3	T	C	5: 88,703,803 (GRCm39)	V444A	probably damaging	Het
Wdr72	T	C	9: 74,056,041 (GRCm39)	V299A	probably benign	Het
Zfp791	C	T	8: 85,840,172 (GRCm39)	V32M	probably damaging	Het
Zfp9	A	G	6: 118,444,292 (GRCm39)	F17S	probably damaging	Het

Other mutations in Abra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02022:Abra	APN	15	41,732,802 (GRCm39)	missense	probably benign
IGL02370:Abra	APN	15	41,732,640 (GRCm39)	missense	probably damaging	1.00
IGL02406:Abra	APN	15	41,732,583 (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

2013-12-03