Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00741:Arhgap31'

9024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap31

Ensembl Gene

ENSMUSG00000022799

Gene Name

Rho GTPase activating protein 31

Synonyms

CdGAP

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

IGL00741

Quality Score

Status

Chromosome

Chromosomal Location

38418705-38533397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38423363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 901 (V901A)

Ref Sequence

ENSEMBL: ENSMUSP00000023487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023487]

AlphaFold

A6X8Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023487
AA Change: V901A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: V901A

Domain	Start	End	E-Value	Type
RhoGAP	32	213	1.04e-60	SMART
low complexity region	291	303	N/A	INTRINSIC
low complexity region	503	522	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
low complexity region	722	733	N/A	INTRINSIC
low complexity region	766	786	N/A	INTRINSIC

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 GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,941,768 (GRCm39)		probably benign	Het
Abcc9	A	C	6: 142,632,956 (GRCm39)	V262G	probably benign	Het
Adamtsl1	T	C	4: 86,195,185 (GRCm39)	V534A	probably damaging	Het
C3	A	G	17: 57,527,206 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,839,454 (GRCm39)	V1330A	probably damaging	Het
Dop1a	A	G	9: 86,404,859 (GRCm39)	T255A	possibly damaging	Het
Eef1a2	T	C	2: 180,794,803 (GRCm39)	Q132R	possibly damaging	Het
Pamr1	A	C	2: 102,416,966 (GRCm39)	S93R	possibly damaging	Het
Tacc3	A	G	5: 33,826,984 (GRCm39)	Y531C	probably damaging	Het
Tcerg1	A	G	18: 42,701,518 (GRCm39)	E860G	possibly damaging	Het
Tmco4	T	A	4: 138,723,885 (GRCm39)		probably null	Het
Zfyve16	A	G	13: 92,660,761 (GRCm39)	L16P	probably damaging	Het

Other mutations in Arhgap31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Arhgap31	APN	16	38,421,818 (GRCm39)	missense	probably damaging	1.00
IGL01152:Arhgap31	APN	16	38,422,601 (GRCm39)	missense	possibly damaging	0.49
IGL01680:Arhgap31	APN	16	38,423,976 (GRCm39)	missense	probably benign	0.04
IGL01739:Arhgap31	APN	16	38,423,793 (GRCm39)	missense	probably benign
IGL01870:Arhgap31	APN	16	38,438,604 (GRCm39)	missense	probably damaging	1.00
IGL01936:Arhgap31	APN	16	38,423,287 (GRCm39)	missense	probably damaging	1.00
IGL01981:Arhgap31	APN	16	38,421,935 (GRCm39)	missense	probably damaging	1.00
IGL01983:Arhgap31	APN	16	38,422,127 (GRCm39)	missense	probably damaging	1.00
IGL02157:Arhgap31	APN	16	38,444,263 (GRCm39)	missense	probably damaging	1.00
IGL02629:Arhgap31	APN	16	38,429,526 (GRCm39)	missense	probably benign	0.00
IGL03375:Arhgap31	APN	16	38,423,190 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Arhgap31	UTSW	16	38,429,354 (GRCm39)	missense	probably damaging	1.00
R0271:Arhgap31	UTSW	16	38,422,872 (GRCm39)	missense	possibly damaging	0.61
R1325:Arhgap31	UTSW	16	38,423,304 (GRCm39)	missense	probably benign	0.00
R1753:Arhgap31	UTSW	16	38,421,974 (GRCm39)	missense	possibly damaging	0.92
R1766:Arhgap31	UTSW	16	38,445,952 (GRCm39)	missense	probably damaging	1.00
R1834:Arhgap31	UTSW	16	38,424,065 (GRCm39)	missense	probably benign	0.02
R2104:Arhgap31	UTSW	16	38,445,941 (GRCm39)	missense	probably benign	0.03
R2261:Arhgap31	UTSW	16	38,429,639 (GRCm39)	missense	probably damaging	1.00
R3011:Arhgap31	UTSW	16	38,422,269 (GRCm39)	missense	possibly damaging	0.58
R3712:Arhgap31	UTSW	16	38,422,895 (GRCm39)	missense	possibly damaging	0.91
R3757:Arhgap31	UTSW	16	38,457,362 (GRCm39)	missense	probably damaging	1.00
R3953:Arhgap31	UTSW	16	38,423,826 (GRCm39)	missense	probably benign	0.00
R4105:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4107:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4108:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4109:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4198:Arhgap31	UTSW	16	38,444,275 (GRCm39)	missense	probably damaging	1.00
R4200:Arhgap31	UTSW	16	38,444,275 (GRCm39)	missense	probably damaging	1.00
R4273:Arhgap31	UTSW	16	38,422,697 (GRCm39)	missense	possibly damaging	0.92
R5020:Arhgap31	UTSW	16	38,423,438 (GRCm39)	missense	probably damaging	1.00
R5100:Arhgap31	UTSW	16	38,421,821 (GRCm39)	missense	probably damaging	1.00
R6516:Arhgap31	UTSW	16	38,429,766 (GRCm39)	missense	possibly damaging	0.47
R6879:Arhgap31	UTSW	16	38,422,676 (GRCm39)	missense	probably benign
R7341:Arhgap31	UTSW	16	38,532,876 (GRCm39)	splice site	probably null
R7880:Arhgap31	UTSW	16	38,423,087 (GRCm39)	missense	probably benign	0.37
R7884:Arhgap31	UTSW	16	38,422,593 (GRCm39)	missense	probably damaging	0.97
R8156:Arhgap31	UTSW	16	38,445,991 (GRCm39)	missense	probably damaging	1.00
R8223:Arhgap31	UTSW	16	38,424,084 (GRCm39)	missense	probably benign	0.21
R8413:Arhgap31	UTSW	16	38,423,283 (GRCm39)	missense	possibly damaging	0.76
R8545:Arhgap31	UTSW	16	38,423,408 (GRCm39)	missense	probably damaging	0.98
R8679:Arhgap31	UTSW	16	38,422,966 (GRCm39)	missense	probably damaging	0.97
R8721:Arhgap31	UTSW	16	38,427,058 (GRCm39)	missense	probably benign
R8815:Arhgap31	UTSW	16	38,429,790 (GRCm39)	missense	probably benign
R9056:Arhgap31	UTSW	16	38,427,017 (GRCm39)	missense	probably benign	0.00
R9077:Arhgap31	UTSW	16	38,422,730 (GRCm39)	missense	probably damaging	0.98
R9251:Arhgap31	UTSW	16	38,423,218 (GRCm39)	missense	probably benign
R9382:Arhgap31	UTSW	16	38,422,988 (GRCm39)	missense	probably benign	0.14
R9500:Arhgap31	UTSW	16	38,460,683 (GRCm39)	missense	probably damaging	1.00
R9544:Arhgap31	UTSW	16	38,423,976 (GRCm39)	missense	probably damaging	0.99
X0063:Arhgap31	UTSW	16	38,422,760 (GRCm39)	missense	probably damaging	0.99
Z1176:Arhgap31	UTSW	16	38,444,255 (GRCm39)	missense	possibly damaging	0.95

Posted On

2012-12-06