Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Arhgap30'

380432

Institutional Source

Beutler Lab

Gene Symbol

Arhgap30

Ensembl Gene

ENSMUSG00000048865

Gene Name

Rho GTPase activating protein 30

Synonyms

6030405P05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171216528-171237808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171230897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 218 (D218G)

Ref Sequence

ENSEMBL: ENSMUSP00000059389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056449]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056449
AA Change: D218G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: D218G

Domain	Start	End	E-Value	Type
low complexity region	6	14	N/A	INTRINSIC
RhoGAP	31	212	1.4e-61	SMART
Blast:RhoGAP	225	285	2e-24	BLAST
low complexity region	348	366	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC
low complexity region	452	463	N/A	INTRINSIC
low complexity region	498	510	N/A	INTRINSIC
low complexity region	514	534	N/A	INTRINSIC
low complexity region	667	690	N/A	INTRINSIC
low complexity region	736	752	N/A	INTRINSIC
low complexity region	924	940	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135312

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

Validation Efficiency

Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(2)

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,067 (GRCm39)	F597S	probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca16	G	T	7: 120,126,309 (GRCm39)	C1155F	probably damaging	Het
Adam26a	T	C	8: 44,021,918 (GRCm39)	D524G	probably damaging	Het
Adamts20	G	C	15: 94,277,656 (GRCm39)	H269D	probably benign	Het
Akap9	T	A	5: 4,100,145 (GRCm39)		probably null	Het
Akt3	T	C	1: 176,877,693 (GRCm39)	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,189,376 (GRCm39)	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974 (GRCm39)	S105P	probably benign	Het
Amph	A	G	13: 19,288,515 (GRCm39)	T335A	probably damaging	Het
Ank2	C	T	3: 126,756,050 (GRCm39)	V1056M	probably damaging	Het
Apoh	A	G	11: 108,298,204 (GRCm39)	D168G	probably benign	Het
Arfgef3	C	T	10: 18,465,454 (GRCm39)	A2130T	probably damaging	Het
Ascc3	C	T	10: 50,699,894 (GRCm39)	P1906S	probably damaging	Het
Atp11b	T	G	3: 35,861,157 (GRCm39)		probably null	Het
B4galnt2	A	G	11: 95,759,255 (GRCm39)	V343A	probably damaging	Het
Barhl1	T	C	2: 28,799,785 (GRCm39)	Y280C	probably damaging	Het
Bcar1	A	T	8: 112,447,669 (GRCm39)	Y103N	probably damaging	Het
Bid	A	G	6: 120,872,707 (GRCm39)	I150T	probably benign	Het
Ccdc171	T	C	4: 83,467,876 (GRCm39)	S74P	probably damaging	Het
Ccni	A	T	5: 93,336,113 (GRCm39)		probably null	Het
Cct8l1	A	G	5: 25,721,891 (GRCm39)	E202G	probably benign	Het
Cd200r3	A	G	16: 44,774,622 (GRCm39)	K212E	probably benign	Het
Cdh19	A	G	1: 110,817,694 (GRCm39)	S683P	probably damaging	Het
Ces2b	A	T	8: 105,559,413 (GRCm39)	H93L	probably benign	Het
Cimip2b	T	A	4: 43,427,514 (GRCm39)	Q270L	possibly damaging	Het
Clec4a1	G	A	6: 122,907,654 (GRCm39)	C114Y	probably damaging	Het
Dcc	G	T	18: 71,675,320 (GRCm39)	S636*	probably null	Het
Dcdc2c	T	C	12: 28,580,472 (GRCm39)	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,164,657 (GRCm39)	E150*	probably null	Het
Dhx30	A	G	9: 109,915,029 (GRCm39)	L884P	probably damaging	Het
Dmwd	T	G	7: 18,815,228 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,932,980 (GRCm39)	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,392,633 (GRCm39)	S447N	probably benign	Het
Elk4	G	A	1: 131,945,419 (GRCm39)	G99D	probably damaging	Het
Entpd1	A	T	19: 40,727,965 (GRCm39)		probably benign	Het
Fam114a1	T	A	5: 65,137,070 (GRCm39)	D4E	probably damaging	Het
Fbln2	A	G	6: 91,241,681 (GRCm39)	D754G	probably damaging	Het
Fhip2a	T	C	19: 57,367,069 (GRCm39)	V204A	probably benign	Het
Foxred2	T	C	15: 77,840,035 (GRCm39)	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591 (GRCm39)		probably benign	Het
Gm1818	G	A	12: 48,606,607 (GRCm39)		noncoding transcript	Het
Gm4894	C	A	9: 49,190,000 (GRCm39)	Q92K	unknown	Het
Gpx2	T	C	12: 76,839,574 (GRCm39)	I141M	probably benign	Het
Gusb	T	C	5: 130,024,326 (GRCm39)	T476A	probably damaging	Het
Hmmr	G	A	11: 40,612,667 (GRCm39)	T180I	possibly damaging	Het
Itgbl1	T	C	14: 124,210,780 (GRCm39)	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,187,951 (GRCm39)	C93*	probably null	Het
Ldaf1	T	C	7: 119,715,535 (GRCm39)	S120P	probably damaging	Het
Lpar3	A	G	3: 145,990,506 (GRCm39)	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,692,897 (GRCm39)		probably null	Het
Lrrc63	C	T	14: 75,322,389 (GRCm39)	G572S	probably damaging	Het
Mapk11	A	T	15: 89,030,685 (GRCm39)	D98E	probably benign	Het
Mgat4f	T	A	1: 134,317,714 (GRCm39)	M162K	probably benign	Het
Net1	G	A	13: 3,934,905 (GRCm39)	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005 (GRCm38)		noncoding transcript	Het
Nrap	T	A	19: 56,335,652 (GRCm39)	Y923F	probably damaging	Het
Or13a20	T	A	7: 140,232,534 (GRCm39)	M214K	probably benign	Het
Or4c108	T	A	2: 88,803,834 (GRCm39)	I134F	probably damaging	Het
Or6c215	A	T	10: 129,637,932 (GRCm39)	V154E	probably benign	Het
Plxnc1	A	G	10: 94,677,335 (GRCm39)	V964A	probably damaging	Het
Pmfbp1	A	G	8: 110,262,498 (GRCm39)	I731V	probably benign	Het
Polq	T	A	16: 36,848,274 (GRCm39)	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,811,620 (GRCm39)	D387G	probably benign	Het
Pramel25	T	C	4: 143,520,407 (GRCm39)	V53A	possibly damaging	Het
Prmt2	G	A	10: 76,056,842 (GRCm39)	T227I	probably damaging	Het
Psmd1	T	A	1: 86,010,947 (GRCm39)	F341I	probably damaging	Het
Ptpn23	T	C	9: 110,221,806 (GRCm39)	M127V	probably benign	Het
Ptprc	A	G	1: 138,017,238 (GRCm39)	F483L	probably damaging	Het
Rab35	A	C	5: 115,778,147 (GRCm39)	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,548,143 (GRCm39)	T486A	probably damaging	Het
Rgl3	A	T	9: 21,899,004 (GRCm39)	C68*	probably null	Het
Rilpl1	T	C	5: 124,653,594 (GRCm39)	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,393,520 (GRCm39)	I354V	probably benign	Het
Rspo3	T	C	10: 29,382,524 (GRCm39)	D50G	probably damaging	Het
Sbno1	A	G	5: 124,512,672 (GRCm39)	S1366P	possibly damaging	Het
Sema3c	A	G	5: 17,899,684 (GRCm39)	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,436,935 (GRCm39)	Y85F	probably benign	Het
Shprh	C	T	10: 11,032,863 (GRCm39)	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,388,103 (GRCm39)	S110P	probably benign	Het
Slc16a12	T	A	19: 34,652,643 (GRCm39)	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,109,268 (GRCm39)	S221P	probably damaging	Het
Slc35b3	A	T	13: 39,116,887 (GRCm39)	I366K	possibly damaging	Het
Slc44a5	T	C	3: 153,949,252 (GRCm39)		probably null	Het
Slc5a12	A	T	2: 110,450,753 (GRCm39)	D316V	probably damaging	Het
Ssr3	A	G	3: 65,299,874 (GRCm39)	S29P	probably damaging	Het
Taf2	G	A	15: 54,890,619 (GRCm39)	Q1055*	probably null	Het
Them6	A	T	15: 74,593,367 (GRCm39)	D75V	probably damaging	Het
Tom1l2	A	G	11: 60,149,744 (GRCm39)	S239P	probably damaging	Het
Tspear	A	G	10: 77,710,877 (GRCm39)	T500A	probably damaging	Het
Tubgcp6	G	A	15: 88,985,752 (GRCm39)	A1487V	probably damaging	Het
Uba7	G	A	9: 107,856,190 (GRCm39)	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147 (GRCm39)	C901*	probably null	Het
Vmn1r172	A	T	7: 23,359,312 (GRCm39)	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,215,010 (GRCm39)	Y331F	probably benign	Het
Wdr55	G	A	18: 36,895,451 (GRCm39)	V143I	probably benign	Het
Zbtb49	A	T	5: 38,371,307 (GRCm39)	D191E	possibly damaging	Het
Zfhx4	A	G	3: 5,307,071 (GRCm39)	H99R	probably damaging	Het
Zfp1005	C	T	2: 150,110,680 (GRCm39)	H457Y	unknown	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,478,354 (GRCm39)	A177V	probably benign	Het
Zfp653	C	T	9: 21,967,074 (GRCm39)	E604K	probably damaging	Het

Other mutations in Arhgap30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Arhgap30	APN	1	171,225,138 (GRCm39)	missense	probably damaging	1.00
IGL02016:Arhgap30	APN	1	171,235,315 (GRCm39)	missense	probably damaging	1.00
IGL02552:Arhgap30	APN	1	171,235,324 (GRCm39)	missense	probably damaging	1.00
IGL03343:Arhgap30	APN	1	171,236,662 (GRCm39)	missense	probably damaging	1.00
consonance	UTSW	1	171,231,707 (GRCm39)	critical splice donor site	probably null
deliverance	UTSW	1	171,225,086 (GRCm39)	nonsense	probably null
redemption	UTSW	1	171,229,822 (GRCm39)	missense	probably damaging	1.00
tercero	UTSW	1	171,235,909 (GRCm39)	missense	probably benign
FR4304:Arhgap30	UTSW	1	171,232,736 (GRCm39)	small insertion	probably benign
P0017:Arhgap30	UTSW	1	171,236,272 (GRCm39)	missense	probably benign	0.02
R0045:Arhgap30	UTSW	1	171,235,998 (GRCm39)	missense	probably benign
R0045:Arhgap30	UTSW	1	171,235,998 (GRCm39)	missense	probably benign
R0115:Arhgap30	UTSW	1	171,235,516 (GRCm39)	missense	possibly damaging	0.92
R0320:Arhgap30	UTSW	1	171,231,372 (GRCm39)	missense	possibly damaging	0.81
R0399:Arhgap30	UTSW	1	171,232,384 (GRCm39)	missense	probably damaging	0.97
R0945:Arhgap30	UTSW	1	171,230,854 (GRCm39)	missense	probably damaging	1.00
R1484:Arhgap30	UTSW	1	171,230,839 (GRCm39)	missense	probably damaging	1.00
R1595:Arhgap30	UTSW	1	171,235,909 (GRCm39)	missense	probably benign
R2173:Arhgap30	UTSW	1	171,235,335 (GRCm39)	missense	probably damaging	1.00
R2281:Arhgap30	UTSW	1	171,216,896 (GRCm39)	missense	probably damaging	1.00
R2864:Arhgap30	UTSW	1	171,235,774 (GRCm39)	missense	probably damaging	1.00
R4066:Arhgap30	UTSW	1	171,235,891 (GRCm39)	missense	probably benign
R4888:Arhgap30	UTSW	1	171,236,880 (GRCm39)	missense	probably benign
R4944:Arhgap30	UTSW	1	171,229,822 (GRCm39)	missense	probably damaging	1.00
R5170:Arhgap30	UTSW	1	171,235,618 (GRCm39)	missense	probably benign	0.00
R5218:Arhgap30	UTSW	1	171,236,328 (GRCm39)	missense	probably benign
R5385:Arhgap30	UTSW	1	171,235,848 (GRCm39)	missense	probably benign
R5541:Arhgap30	UTSW	1	171,231,707 (GRCm39)	critical splice donor site	probably null
R6028:Arhgap30	UTSW	1	171,235,888 (GRCm39)	missense	probably benign
R6747:Arhgap30	UTSW	1	171,235,297 (GRCm39)	missense	probably damaging	1.00
R6748:Arhgap30	UTSW	1	171,232,378 (GRCm39)	missense	possibly damaging	0.50
R6869:Arhgap30	UTSW	1	171,236,623 (GRCm39)	missense	probably damaging	1.00
R7223:Arhgap30	UTSW	1	171,235,139 (GRCm39)	missense	probably damaging	1.00
R8113:Arhgap30	UTSW	1	171,225,086 (GRCm39)	nonsense	probably null
R8543:Arhgap30	UTSW	1	171,232,530 (GRCm39)	missense	probably damaging	1.00
R8545:Arhgap30	UTSW	1	171,234,998 (GRCm39)	missense	probably damaging	1.00
R8682:Arhgap30	UTSW	1	171,234,970 (GRCm39)	missense	probably benign	0.00
R8693:Arhgap30	UTSW	1	171,225,094 (GRCm39)	missense	probably damaging	1.00
R9026:Arhgap30	UTSW	1	171,228,258 (GRCm39)	missense	probably damaging	1.00
R9245:Arhgap30	UTSW	1	171,235,957 (GRCm39)	missense	possibly damaging	0.90
R9515:Arhgap30	UTSW	1	171,236,002 (GRCm39)	missense	probably benign	0.38
R9524:Arhgap30	UTSW	1	171,225,114 (GRCm39)	missense	probably damaging	0.99
R9703:Arhgap30	UTSW	1	171,235,339 (GRCm39)	missense	probably damaging	1.00
X0020:Arhgap30	UTSW	1	171,232,653 (GRCm39)	missense	possibly damaging	0.53
Z1177:Arhgap30	UTSW	1	171,235,476 (GRCm39)	missense	probably benign	0.01
Z1189:Arhgap30	UTSW	1	171,235,938 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACGAGATCCTGACCTGTCTG -3'
(R):5'- ATGAGAGACGCTTCCTACCCAC -3'

Sequencing Primer
(F):5'- GAGATCCTGACCTGTCTGTCTTG -3'
(R):5'- GCTTCCTACCCACAGTATGAG -3'

Posted On

2016-04-15