Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Arhgap40'

592082

Institutional Source

Beutler Lab

Gene Symbol

Arhgap40

Ensembl Gene

ENSMUSG00000074625

Gene Name

Rho GTPase activating protein 40

Synonyms

Gm14203

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158512796-158550762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158531925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 209 (S209T)

Ref Sequence

ENSEMBL: ENSMUSP00000096736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099133] [ENSMUST00000165398]

AlphaFold

E9Q6X9

Predicted Effect

probably benign
Transcript: ENSMUST00000099133
AA Change: S209T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: S209T

Domain	Start	End	E-Value	Type
low complexity region	123	143	N/A	INTRINSIC
RhoGAP	340	519	1.84e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165398
AA Change: S206T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: S206T

Domain	Start	End	E-Value	Type
low complexity region	120	140	N/A	INTRINSIC
RhoGAP	337	516	1.84e-47	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974		probably null	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864		probably null	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		probably benign	Het

Other mutations in Arhgap40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Arhgap40	APN	2	158531158	missense	probably benign	0.41
IGL00547:Arhgap40	APN	2	158538626	splice site	probably benign
IGL00911:Arhgap40	APN	2	158534716	splice site	probably benign
IGL01084:Arhgap40	APN	2	158543218	missense	probably damaging	1.00
IGL02037:Arhgap40	APN	2	158534822	missense	probably damaging	1.00
IGL02111:Arhgap40	APN	2	158539844	missense	probably damaging	0.99
IGL02131:Arhgap40	APN	2	158531939	splice site	probably null
IGL02552:Arhgap40	APN	2	158546801	missense	probably benign
PIT4305001:Arhgap40	UTSW	2	158531905	missense	probably benign	0.00
R0212:Arhgap40	UTSW	2	158550575	missense	probably damaging	1.00
R0508:Arhgap40	UTSW	2	158546750	missense	probably damaging	1.00
R0787:Arhgap40	UTSW	2	158547790	missense	probably benign
R1075:Arhgap40	UTSW	2	158549647	missense	possibly damaging	0.54
R1201:Arhgap40	UTSW	2	158534769	missense	probably damaging	1.00
R1511:Arhgap40	UTSW	2	158527161	missense	probably benign
R1519:Arhgap40	UTSW	2	158546801	missense	probably benign
R1567:Arhgap40	UTSW	2	158546799	missense	probably damaging	1.00
R1662:Arhgap40	UTSW	2	158539270	missense	probably damaging	1.00
R4120:Arhgap40	UTSW	2	158532330	missense	probably benign	0.02
R4592:Arhgap40	UTSW	2	158546709	missense	possibly damaging	0.88
R4678:Arhgap40	UTSW	2	158532306	missense	probably benign	0.01
R4818:Arhgap40	UTSW	2	158539719	missense	probably damaging	1.00
R4953:Arhgap40	UTSW	2	158543406	missense	possibly damaging	0.57
R5108:Arhgap40	UTSW	2	158547679	missense	probably damaging	1.00
R5578:Arhgap40	UTSW	2	158531206	missense	probably damaging	0.99
R6924:Arhgap40	UTSW	2	158527146	missense	probably benign	0.00
R6931:Arhgap40	UTSW	2	158531218	missense	probably benign	0.00
R7028:Arhgap40	UTSW	2	158531374	critical splice donor site	probably null
R7253:Arhgap40	UTSW	2	158547656	missense	probably benign
R7385:Arhgap40	UTSW	2	158543227	missense	probably damaging	1.00
R7813:Arhgap40	UTSW	2	158538700	missense	probably benign	0.00
R7824:Arhgap40	UTSW	2	158534746	missense	probably damaging	1.00
R8179:Arhgap40	UTSW	2	158539856	missense	probably damaging	1.00
R8559:Arhgap40	UTSW	2	158541801	missense	probably damaging	1.00
R8799:Arhgap40	UTSW	2	158512838	missense	probably benign	0.33
R8804:Arhgap40	UTSW	2	158547706	missense	probably benign	0.00
R9096:Arhgap40	UTSW	2	158547664	missense	probably benign	0.01
R9097:Arhgap40	UTSW	2	158547664	missense	probably benign	0.01
R9222:Arhgap40	UTSW	2	158546772	missense	probably damaging	1.00
R9488:Arhgap40	UTSW	2	158549651	missense	possibly damaging	0.78
Z1176:Arhgap40	UTSW	2	158534885	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCCAGCAATGTATCTTCTGTG -3'
(R):5'- CCTGAAGGCAGTGGTCCATTTAG -3'

Sequencing Primer
(F):5'- GGATCTTGGCTAAGTAACATTGCCC -3'
(R):5'- GCAGTGGTCCATTTAGGGAAC -3'

Posted On

2019-11-12