Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Arhgap40'

671894

Institutional Source

Beutler Lab

Gene Symbol

Arhgap40

Ensembl Gene

ENSMUSG00000074625

Gene Name

Rho GTPase activating protein 40

Synonyms

Gm14203

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158512796-158550762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158547706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 600 (T600A)

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: T600A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: T600A

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: T597A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: T597A

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: 99.2%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,628,656		probably benign	Het
Adamts1	A	G	16: 85,802,412	F100S	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably benign	Het
Adgrb2	T	A	4: 130,005,419	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,847,016	V617E	probably damaging	Het
Akt1	T	C	12: 112,658,607	E169G	probably damaging	Het
B4galt3	C	T	1: 171,276,374	H395Y	probably benign	Het
BC024139	T	G	15: 76,124,084	T376P	possibly damaging	Het
Bin3	A	G	14: 70,123,847	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,806	I480N	probably damaging	Het
Camsap3	A	G	8: 3,602,624	T401A	probably benign	Het
Cdhr5	T	C	7: 141,269,407	T747A	probably benign	Het
Chn2	A	G	6: 54,273,076	I193V	probably benign	Het
Clca3b	T	C	3: 144,839,137	N363S	probably benign	Het
Clec7a	T	C	6: 129,465,555	T125A	probably benign	Het
Cys1	A	T	12: 24,668,611	L81Q	unknown	Het
Dcbld2	G	A	16: 58,461,049		probably benign	Het
Ddx60	T	A	8: 61,958,606	D497E	probably benign	Het
Dnah2	T	C	11: 69,465,685	I2117V	probably benign	Het
Dnah6	G	A	6: 73,065,773	S3274F	probably benign	Het
Dock9	A	T	14: 121,605,183	I1225N	probably damaging	Het
Egfr	A	G	11: 16,869,339	T290A	probably benign	Het
Elmod2	T	A	8: 83,319,521	K142N	probably benign	Het
Ephx2	T	C	14: 66,087,020	T441A	probably benign	Het
Fam234a	A	G	17: 26,216,557		probably benign	Het
Fer1l4	C	A	2: 156,051,994	E102D	probably benign	Het
Fermt3	A	G	19: 7,014,326		probably benign	Het
Fgd5	C	T	6: 91,987,526	R247C	probably benign	Het
Gm14443	G	A	2: 175,169,859	H265Y	probably damaging	Het
Gm8251	T	C	1: 44,056,649	N1763S	probably benign	Het
Gykl1	A	G	18: 52,694,536	D272G	probably benign	Het
Hip1r	T	C	5: 124,001,512	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Hrasls	T	A	16: 29,220,453	V95E	probably benign	Het
Ighv1-36	G	T	12: 114,879,961	T93K	probably benign	Het
Igsf10	T	G	3: 59,336,455	T153P	probably damaging	Het
Kif13b	T	C	14: 64,750,342	C773R	probably damaging	Het
Lipf	T	A	19: 33,964,798	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,264,904	D90G	probably damaging	Het
Msh5	A	T	17: 35,032,854	I410K	probably benign	Het
Mylk3	T	C	8: 85,359,245	D220G	probably benign	Het
Ncdn	G	A	4: 126,750,105	A308V	probably benign	Het
Nfu1	T	A	6: 87,016,432		probably benign	Het
Nup153	A	G	13: 46,687,159	V991A	probably benign	Het
Nup188	T	A	2: 30,330,879	H960Q	probably benign	Het
Parp4	G	T	14: 56,616,443	E839*	probably null	Het
Pfas	T	C	11: 68,991,082	N30D		Het
Pitpnc1	T	A	11: 107,212,605	N223Y	probably damaging	Het
Plod1	C	T	4: 147,913,321	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,880,470	T548A	unknown	Het
Psg20	A	T	7: 18,682,659	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,200,251	I173N	probably damaging	Het
Rimkla	G	A	4: 119,468,076	Q379*	probably null	Het
Rnasel	G	T	1: 153,753,915	G59V	probably damaging	Het
Rptn	A	T	3: 93,395,843	D161V	probably damaging	Het
Scrt1	C	A	15: 76,519,211	C193F	unknown	Het
Sdk2	G	T	11: 113,873,152	Y269*	probably null	Het
Sfxn2	G	C	19: 46,585,804		probably benign	Het
Slc17a4	G	T	13: 23,903,262	T264K	probably benign	Het
Slfn8	T	A	11: 83,016,813	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,792,127	S231F	probably benign	Het
Spag17	T	A	3: 99,967,190	S137T	probably benign	Het
Srd5a2	A	T	17: 74,047,634	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,535,256	H967R	probably benign	Het
Sun1	A	G	5: 139,231,165	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,692,963	L15P	probably benign	Het
Tas2r140	T	A	6: 133,055,363	N144I	probably damaging	Het
Thpo	T	A	16: 20,725,957	R174S	probably damaging	Het
Tnik	A	T	3: 28,594,053	Q418L	unknown	Het
Tnr	A	T	1: 159,858,312	Q371L	probably benign	Het
Tulp2	G	A	7: 45,520,974	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,235,324	W29L	probably damaging	Het
Vrk3	T	A	7: 44,757,846	C80*	probably null	Het
Washc4	T	C	10: 83,572,151	L540P	probably damaging	Het
Wscd1	T	C	11: 71,784,335	F356S	probably damaging	Het
Wwc1	A	T	11: 35,883,317	M372K	probably benign	Het
Zfhx2	A	G	14: 55,074,734	F168L	probably benign	Het
Zfp28	A	G	7: 6,390,400	D175G	probably damaging	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
R7670:Arhgap40	UTSW	2	158531925	missense	probably benign	0.03
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
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'- TGCATTTCCACACCTGGCTG -3'
(R):5'- AACTCCTCATGGCCTTCAGC -3'

Sequencing Primer
(F):5'- ATTTCCACACCTGGCTGTAGACG -3'
(R):5'- TTCAGCTGGAAGGGACCAAACC -3'

Posted On

2021-04-30