Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01122:Arhgap6'

53345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap6

Ensembl Gene

ENSMUSG00000031355

Gene Name

Rho GTPase activating protein 6

Synonyms

RhoGAPX-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01122

Quality Score

Status

Chromosome

Chromosomal Location

167578095-168087431 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 168029666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 142 (K142N)

Ref Sequence

ENSEMBL: ENSMUSP00000107759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033721] [ENSMUST00000087016] [ENSMUST00000112127] [ENSMUST00000112129] [ENSMUST00000112131] [ENSMUST00000139146] [ENSMUST00000154638]

AlphaFold

O54834

Predicted Effect

probably benign
Transcript: ENSMUST00000033721
AA Change: K324N

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033721
Gene: ENSMUSG00000031355
AA Change: K324N

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
low complexity region	138	164	N/A	INTRINSIC
low complexity region	250	268	N/A	INTRINSIC
low complexity region	328	361	N/A	INTRINSIC
RhoGAP	410	601	2.25e-65	SMART
low complexity region	712	726	N/A	INTRINSIC
low complexity region	765	776	N/A	INTRINSIC
low complexity region	880	895	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087016
AA Change: K142N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084239
Gene: ENSMUSG00000031355
AA Change: K142N

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
Pfam:RhoGAP	231	287	9e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112127
AA Change: K132N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107755
Gene: ENSMUSG00000031355
AA Change: K132N

Domain	Start	End	E-Value	Type
low complexity region	58	76	N/A	INTRINSIC
low complexity region	136	169	N/A	INTRINSIC
RhoGAP	218	409	2.25e-65	SMART
low complexity region	520	534	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
low complexity region	688	703	N/A	INTRINSIC
low complexity region	745	756	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112129
AA Change: K142N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107757
Gene: ENSMUSG00000031355
AA Change: K142N

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
RhoGAP	228	374	5.21e-38	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112131
AA Change: K142N

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107759
Gene: ENSMUSG00000031355
AA Change: K142N

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
RhoGAP	228	419	2.25e-65	SMART
low complexity region	530	544	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	698	713	N/A	INTRINSIC
low complexity region	755	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139146
AA Change: K142N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134512
Gene: ENSMUSG00000031355
AA Change: K142N

Domain	Start	End	E-Value	Type
low complexity region	68	86	N/A	INTRINSIC
low complexity region	146	179	N/A	INTRINSIC
RhoGAP	228	419	2.25e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143048

Predicted Effect

probably benign
Transcript: ENSMUST00000154638

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any observable abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a1	T	A	8: 70,251,555 (GRCm39)	L540Q	probably damaging	Het
Cacna1a	T	C	8: 85,341,422 (GRCm39)		probably null	Het
Cops6	A	G	5: 138,160,635 (GRCm39)	K129E	probably benign	Het
Cracd	T	C	5: 77,018,522 (GRCm39)	*1289Q	probably null	Het
Cyp11a1	T	C	9: 57,923,589 (GRCm39)	I98T	probably damaging	Het
Cyp2c65	A	G	19: 39,060,621 (GRCm39)		probably null	Het
Dapl1	A	T	2: 59,324,839 (GRCm39)	K30I	probably damaging	Het
Dlg2	A	G	7: 92,091,816 (GRCm39)	M894V	possibly damaging	Het
Eme2	C	T	17: 25,112,320 (GRCm39)	A202T	possibly damaging	Het
Fbxw22	A	T	9: 109,215,739 (GRCm39)	S170T	probably damaging	Het
Havcr2	A	G	11: 46,347,254 (GRCm39)	Y77C	probably damaging	Het
Ivd	T	A	2: 118,707,361 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,778,900 (GRCm39)	D471G	possibly damaging	Het
Med12	T	C	X: 100,325,149 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,338,264 (GRCm39)	R445W	probably damaging	Het
Mptx1	A	G	1: 174,159,964 (GRCm39)	Y90C	probably damaging	Het
Nek1	G	A	8: 61,574,000 (GRCm39)	V1083I	possibly damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Or4a72	A	G	2: 89,405,767 (GRCm39)	I101T	possibly damaging	Het
Pbdc1	T	C	X: 104,126,297 (GRCm39)		probably benign	Het
Phlpp1	G	T	1: 106,101,166 (GRCm39)	R478L	possibly damaging	Het
Ppp2r3c	C	T	12: 55,344,587 (GRCm39)	G127D	probably benign	Het
Ppp2r3d	A	G	9: 101,088,844 (GRCm39)	L493P	probably benign	Het
Pramel24	A	G	4: 143,454,971 (GRCm39)	D423G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Rdh13	T	C	7: 4,445,694 (GRCm39)	K60R	probably benign	Het
Scaf4	A	G	16: 90,045,518 (GRCm39)	S528P	unknown	Het
Sfmbt1	A	G	14: 30,532,268 (GRCm39)	I543V	probably damaging	Het
Speg	T	C	1: 75,386,679 (GRCm39)	L1271P	probably damaging	Het
Stard9	C	A	2: 120,528,960 (GRCm39)	T1739K	possibly damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Tmprss11b	G	T	5: 86,811,376 (GRCm39)	T186K	probably benign	Het
U2surp	G	T	9: 95,372,287 (GRCm39)	Q291K	probably benign	Het
Ulk4	A	G	9: 120,997,358 (GRCm39)	I738T	possibly damaging	Het
Urb1	A	T	16: 90,601,346 (GRCm39)	S142T	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,988 (GRCm39)	I222N	probably benign	Het
Zmym4	T	C	4: 126,758,045 (GRCm39)	N1503S	probably damaging	Het

Other mutations in Arhgap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02609:Arhgap6	APN	X	167,961,062 (GRCm39)	intron	probably benign
R1499:Arhgap6	UTSW	X	167,579,499 (GRCm39)	missense	possibly damaging	0.92
R1553:Arhgap6	UTSW	X	168,048,480 (GRCm39)	missense	probably damaging	1.00
R2146:Arhgap6	UTSW	X	167,579,496 (GRCm39)	missense	probably benign	0.00
R2148:Arhgap6	UTSW	X	167,579,496 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21