Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01870:Arhgap31'

178690

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

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

38598340-38713274 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38618242 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 300 (K300E)

Ref Sequence

ENSEMBL: ENSMUSP00000023487 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023487
AA Change: K300E

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

SMART Domains

Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: K300E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124866

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,381,327	D125G	probably damaging	Het
Cma2	C	A	14: 55,973,737	S162Y	probably benign	Het
Cntn4	A	G	6: 106,489,715	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,952,528	M556L	probably benign	Het
Dld	A	G	12: 31,335,467	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,032,569	D3746E	probably benign	Het
Eea1	A	G	10: 95,973,986	T9A	probably damaging	Het
Fam102a	T	C	2: 32,566,282	S319P	probably benign	Het
Gbf1	A	G	19: 46,285,669	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm12794	T	A	4: 101,940,690	L95H	probably benign	Het
H2-M1	A	T	17: 36,670,063	M327K	probably benign	Het
Ifnz	T	A	4: 88,783,311	S176T	possibly damaging	Het
Irak4	T	C	15: 94,547,870	Y10H	probably benign	Het
Irx5	T	C	8: 92,359,777	F163L	probably damaging	Het
Jak3	C	T	8: 71,680,790	P376S	probably damaging	Het
Lrrc25	T	C	8: 70,617,787	S73P	possibly damaging	Het
Macf1	C	T	4: 123,474,113	G2285D	probably damaging	Het
Muc4	A	T	16: 32,753,196	T1025S	probably benign	Het
Mylk2	A	G	2: 152,915,214	N303S	probably benign	Het
Olfr111	G	A	17: 37,530,664	R229H	probably benign	Het
Pcnx	T	C	12: 81,975,893	V1512A	probably benign	Het
Phlda3	A	G	1: 135,766,638	S64G	probably benign	Het
Pptc7	C	A	5: 122,313,602	S40R	probably damaging	Het
Ptpn4	A	C	1: 119,675,547		probably null	Het
Slc10a1	T	C	12: 80,960,528	M160V	probably benign	Het
Stac	T	C	9: 111,572,332	I349V	probably benign	Het
Synm	A	G	7: 67,736,118	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,162,088	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,624,477	V883I	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Whamm	C	T	7: 81,595,974	T726I	probably damaging	Het

Other mutations in Arhgap31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00741:Arhgap31	APN	16	38603001	missense	probably damaging	1.00
IGL01062:Arhgap31	APN	16	38601456	missense	probably damaging	1.00
IGL01152:Arhgap31	APN	16	38602239	missense	possibly damaging	0.49
IGL01680:Arhgap31	APN	16	38603614	missense	probably benign	0.04
IGL01739:Arhgap31	APN	16	38603431	missense	probably benign
IGL01936:Arhgap31	APN	16	38602925	missense	probably damaging	1.00
IGL01981:Arhgap31	APN	16	38601573	missense	probably damaging	1.00
IGL01983:Arhgap31	APN	16	38601765	missense	probably damaging	1.00
IGL02157:Arhgap31	APN	16	38623901	missense	probably damaging	1.00
IGL02629:Arhgap31	APN	16	38609164	missense	probably benign	0.00
IGL03375:Arhgap31	APN	16	38602828	missense	probably damaging	1.00
PIT4283001:Arhgap31	UTSW	16	38608992	missense	probably damaging	1.00
R0271:Arhgap31	UTSW	16	38602510	missense	possibly damaging	0.61
R1325:Arhgap31	UTSW	16	38602942	missense	probably benign	0.00
R1753:Arhgap31	UTSW	16	38601612	missense	possibly damaging	0.92
R1766:Arhgap31	UTSW	16	38625590	missense	probably damaging	1.00
R1834:Arhgap31	UTSW	16	38603703	missense	probably benign	0.02
R2104:Arhgap31	UTSW	16	38625579	missense	probably benign	0.03
R2261:Arhgap31	UTSW	16	38609277	missense	probably damaging	1.00
R3011:Arhgap31	UTSW	16	38601907	missense	possibly damaging	0.58
R3712:Arhgap31	UTSW	16	38602533	missense	possibly damaging	0.91
R3757:Arhgap31	UTSW	16	38637000	missense	probably damaging	1.00
R3953:Arhgap31	UTSW	16	38603464	missense	probably benign	0.00
R4105:Arhgap31	UTSW	16	38602426	missense	probably damaging	1.00
R4107:Arhgap31	UTSW	16	38602426	missense	probably damaging	1.00
R4108:Arhgap31	UTSW	16	38602426	missense	probably damaging	1.00
R4109:Arhgap31	UTSW	16	38602426	missense	probably damaging	1.00
R4198:Arhgap31	UTSW	16	38623913	missense	probably damaging	1.00
R4200:Arhgap31	UTSW	16	38623913	missense	probably damaging	1.00
R4273:Arhgap31	UTSW	16	38602335	missense	possibly damaging	0.92
R5020:Arhgap31	UTSW	16	38603076	missense	probably damaging	1.00
R5100:Arhgap31	UTSW	16	38601459	missense	probably damaging	1.00
R6516:Arhgap31	UTSW	16	38609404	missense	possibly damaging	0.47
R6879:Arhgap31	UTSW	16	38602314	missense	probably benign
R7341:Arhgap31	UTSW	16	38712514	intron	probably null
R7880:Arhgap31	UTSW	16	38602725	missense	probably benign	0.37
R7884:Arhgap31	UTSW	16	38602231	missense	probably damaging	0.97
R7963:Arhgap31	UTSW	16	38602725	missense	probably benign	0.37
R7967:Arhgap31	UTSW	16	38602231	missense	probably damaging	0.97
X0063:Arhgap31	UTSW	16	38602398	missense	probably damaging	0.99
Z1176:Arhgap31	UTSW	16	38623893	missense	possibly damaging	0.95

Posted On

2014-05-07