Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03062:Arhgap17'

409528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap17

Ensembl Gene

ENSMUSG00000030766

Gene Name

Rho GTPase activating protein 17

Synonyms

Nadrin2, Nadrin, WBP15, 5730403H17Rik, Rich1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

123279218-123369915 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 123321874 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000205936] [ENSMUST00000206117] [ENSMUST00000207010]

Predicted Effect

probably null
Transcript: ENSMUST00000098060

SMART Domains

Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	554	595	N/A	INTRINSIC
low complexity region	624	640	N/A	INTRINSIC
low complexity region	644	664	N/A	INTRINSIC
low complexity region	683	704	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106442

SMART Domains

Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	542	557	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	632	673	N/A	INTRINSIC
low complexity region	702	718	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167309

SMART Domains

Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766

Domain	Start	End	E-Value	Type
BAR	1	239	4.45e-65	SMART
RhoGAP	263	439	1.2e-60	SMART
low complexity region	542	557	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	632	673	N/A	INTRINSIC
low complexity region	702	718	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	761	782	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000205262

Predicted Effect

probably benign
Transcript: ENSMUST00000205936

Predicted Effect

probably benign
Transcript: ENSMUST00000206117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206294

Predicted Effect

probably null
Transcript: ENSMUST00000207010

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,038,517		probably benign	Het
Abcb10	C	T	8: 123,954,315	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,936,087	I282L	probably benign	Het
Aox1	A	T	1: 58,078,465	E835D	probably benign	Het
Calcr	C	T	6: 3,693,718	V359I	probably benign	Het
Chd9	T	A	8: 91,015,267		probably benign	Het
Col28a1	T	C	6: 8,017,029		probably benign	Het
Dnajc11	A	G	4: 151,970,861	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,264,684	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,993,077		probably null	Het
Fam98a	A	G	17: 75,540,105		probably benign	Het
Ficd	A	G	5: 113,738,253	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,506,804	S66P	probably damaging	Het
Fmo5	A	G	3: 97,635,593	Y73C	probably damaging	Het
Galnt12	C	A	4: 47,122,566	R574S	possibly damaging	Het
Klc3	C	A	7: 19,395,062	G461W	probably damaging	Het
Lmo7	A	T	14: 101,912,079	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,311,910	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,718,304	V127A	probably benign	Het
Lyrm1	T	C	7: 119,916,131		probably benign	Het
Med28	G	A	5: 45,522,469	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,388,461	Y179H	probably damaging	Het
Micall1	A	C	15: 79,114,681	N58T	probably damaging	Het
Ncoa4	T	A	14: 32,173,420	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,248,933	Q879R	probably benign	Het
Olfr1428	C	T	19: 12,109,148	V133I	probably benign	Het
Olfr870	T	A	9: 20,171,167	I135F	probably damaging	Het
Olfr965	T	A	9: 39,720,035	D269E	probably benign	Het
Phf11b	T	C	14: 59,324,924	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,714,707	I27L	probably benign	Het
Plxna2	T	C	1: 194,762,550	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,510,039	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,732,304	G744*	probably null	Het
Rsbn1	C	A	3: 103,953,629		probably benign	Het
Sars2	T	A	7: 28,746,781	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,011,880	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,463,379	D42G	probably benign	Het
Sidt2	A	G	9: 45,942,683		probably null	Het
Slc39a8	T	C	3: 135,886,797		probably benign	Het
Slc9c1	T	C	16: 45,599,758	S1059P	probably benign	Het
Socs6	A	T	18: 88,869,846	M315K	probably benign	Het
Soga3	T	A	10: 29,198,949	F911Y	probably damaging	Het
Speer2	T	C	16: 69,857,977	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,624,182		probably null	Het
Tmbim1	A	T	1: 74,291,699	I168N	possibly damaging	Het
Trim38	T	C	13: 23,782,963	V131A	probably damaging	Het
Ube2o	A	G	11: 116,541,642	S833P	probably damaging	Het
Uggt2	T	C	14: 119,075,346	I350M	probably damaging	Het
Unc80	A	G	1: 66,509,489	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,156,282	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,632,428	C193Y	probably damaging	Het

Other mutations in Arhgap17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Arhgap17	APN	7	123286568	utr 3 prime	probably benign
IGL02112:Arhgap17	APN	7	123318417	missense	possibly damaging	0.92
IGL02117:Arhgap17	APN	7	123286773	utr 3 prime	probably benign
gensing	UTSW	7	123314690	missense	probably damaging	1.00
Nightshade	UTSW	7	123327244	missense	probably damaging	1.00
tuberose	UTSW	7	123308377	missense	probably damaging	1.00
yam	UTSW	7	123306420	missense	probably damaging	1.00
P0028:Arhgap17	UTSW	7	123286677	utr 3 prime	probably benign
R0480:Arhgap17	UTSW	7	123294644	missense	probably damaging	0.98
R0593:Arhgap17	UTSW	7	123286743	utr 3 prime	probably benign
R0594:Arhgap17	UTSW	7	123294518	missense	probably benign	0.00
R0599:Arhgap17	UTSW	7	123303790	splice site	probably benign
R0751:Arhgap17	UTSW	7	123314690	missense	probably damaging	1.00
R1184:Arhgap17	UTSW	7	123314690	missense	probably damaging	1.00
R1791:Arhgap17	UTSW	7	123286702	missense	probably benign	0.23
R2036:Arhgap17	UTSW	7	123318494	missense	possibly damaging	0.92
R3428:Arhgap17	UTSW	7	123323631	missense	probably damaging	1.00
R4032:Arhgap17	UTSW	7	123280066	utr 3 prime	probably benign
R4119:Arhgap17	UTSW	7	123306994	missense	probably damaging	1.00
R4652:Arhgap17	UTSW	7	123286618	utr 3 prime	probably benign
R4687:Arhgap17	UTSW	7	123321603	missense	probably damaging	1.00
R4910:Arhgap17	UTSW	7	123308377	missense	probably damaging	1.00
R4960:Arhgap17	UTSW	7	123286926	utr 3 prime	probably benign
R4963:Arhgap17	UTSW	7	123308360	missense	possibly damaging	0.91
R5028:Arhgap17	UTSW	7	123294673	missense	probably benign	0.05
R5253:Arhgap17	UTSW	7	123303748	missense	probably benign	0.00
R5316:Arhgap17	UTSW	7	123296527	missense	possibly damaging	0.63
R5410:Arhgap17	UTSW	7	123297493	critical splice donor site	probably null
R5890:Arhgap17	UTSW	7	123286758	utr 3 prime	probably benign
R6367:Arhgap17	UTSW	7	123308363	makesense	probably null
R6376:Arhgap17	UTSW	7	123300504	missense	probably damaging	1.00
R6513:Arhgap17	UTSW	7	123292156	missense	possibly damaging	0.87
R6862:Arhgap17	UTSW	7	123321901	missense	probably damaging	0.98
R6962:Arhgap17	UTSW	7	123296432	missense	probably damaging	1.00
R7077:Arhgap17	UTSW	7	123280008	missense	unknown
R7178:Arhgap17	UTSW	7	123285358	splice site	probably null
R7205:Arhgap17	UTSW	7	123306438	missense	probably damaging	1.00
R7342:Arhgap17	UTSW	7	123327244	missense	probably damaging	1.00
R7524:Arhgap17	UTSW	7	123306420	missense	probably damaging	1.00
R7812:Arhgap17	UTSW	7	123280067	missense	unknown
R7901:Arhgap17	UTSW	7	123286568	utr 3 prime	probably benign
R7950:Arhgap17	UTSW	7	123286816	missense	probably benign	0.23
R7952:Arhgap17	UTSW	7	123286691	missense	probably benign	0.23
RF009:Arhgap17	UTSW	7	123286862	small deletion	probably benign
RF015:Arhgap17	UTSW	7	123286862	small deletion	probably benign

Posted On

2016-08-02