Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Arhgap30'

163278

Institutional Source

Beutler Lab

Gene Symbol

Arhgap30

Ensembl Gene

ENSMUSG00000048865

Gene Name

Rho GTPase activating protein 30

Synonyms

6030405P05Rik

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171216528-171237808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 171230839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 199 (V199M)

Ref Sequence

ENSEMBL: ENSMUSP00000059389 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000056449
AA Change: V199M

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

SMART Domains

Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: V199M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

Allele List at MGI

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

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	probably benign	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
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
R4937:Arhgap30	UTSW	1	171,230,897 (GRCm39)	missense	probably benign	0.03
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'- CATAGTAGGGTATTTCAGAAGCAGGGC -3'
(R):5'- TCTATGAGAGACGCTTCCTACCCAC -3'

Sequencing Primer
(F):5'- ATAACGAGATCCTGACCTGTCTG -3'
(R):5'- AAATGACTTTGAGGCTCCTCAC -3'

Posted On

2014-03-28