Mutagenetix > Incidental Mutation

Incidental Mutation 'R4120:Arhgap40'

315258

Institutional Source

Beutler Lab

Gene Symbol

Arhgap40

Ensembl Gene

ENSMUSG00000074625

Gene Name

Rho GTPase activating protein 40

Synonyms

Gm14203

MMRRC Submission

040993-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R4120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158354716-158392682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158374250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 222 (M222V)

Ref Sequence

ENSEMBL: ENSMUSP00000130349 (fasta)

Gene Model

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

AlphaFold

E9Q6X9

Predicted Effect

probably benign
Transcript: ENSMUST00000099133
AA Change: M225V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: M225V

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: M222V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: M222V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (55/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,133,388 (GRCm39)	E1233*	probably null	Het
Afap1l1	T	C	18: 61,872,243 (GRCm39)	D526G	probably damaging	Het
Ago4	A	G	4: 126,390,600 (GRCm39)	Y807H	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Asnsd1	A	G	1: 53,387,154 (GRCm39)	S158P	probably damaging	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Col4a1	G	A	8: 11,256,263 (GRCm39)	P1535S	unknown	Het
Dennd2a	G	A	6: 39,442,030 (GRCm39)	R947C	probably damaging	Het
Dlg2	G	A	7: 91,614,846 (GRCm39)	V217I	probably damaging	Het
Dnaaf2	T	C	12: 69,244,812 (GRCm39)	D83G	possibly damaging	Het
Dppa5a	A	T	9: 78,275,137 (GRCm39)	M55K	possibly damaging	Het
Ect2l	A	G	10: 18,006,466 (GRCm39)	V779A	probably benign	Het
Ehhadh	A	G	16: 21,581,934 (GRCm39)	S353P	probably benign	Het
Etv3	A	G	3: 87,443,589 (GRCm39)	D391G	probably benign	Het
Fastkd1	T	A	2: 69,537,654 (GRCm39)	K309N	probably damaging	Het
Fip1l1	T	A	5: 74,748,852 (GRCm39)	Y375N	probably damaging	Het
Flvcr2	T	C	12: 85,832,903 (GRCm39)	S308P	probably benign	Het
Fyco1	T	C	9: 123,654,691 (GRCm39)	Y1065C	probably benign	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Gm17175	A	T	14: 51,810,534 (GRCm39)	I31N	probably damaging	Het
Gm6003	T	A	7: 32,864,976 (GRCm39)		noncoding transcript	Het
Gm9951	T	C	8: 34,522,993 (GRCm39)		noncoding transcript	Het
Hspa2	A	G	12: 76,452,008 (GRCm39)	E234G	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Iqsec1	A	T	6: 90,639,584 (GRCm39)	Y1065*	probably null	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Map2	G	A	1: 66,455,063 (GRCm39)	A1318T	probably damaging	Het
Mas1	A	T	17: 13,061,233 (GRCm39)	N63K	probably damaging	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nav3	A	G	10: 109,739,605 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,133,359 (GRCm39)		noncoding transcript	Het
Oca2	A	T	7: 55,904,630 (GRCm39)	D32V	probably damaging	Het
Or51v8	T	C	7: 103,320,221 (GRCm39)	T6A	probably benign	Het
Or8b9	T	C	9: 37,766,705 (GRCm39)	L197S	possibly damaging	Het
Otub2	T	C	12: 103,370,489 (GRCm39)	V257A	probably damaging	Het
Pink1	G	A	4: 138,042,822 (GRCm39)	R461*	probably null	Het
Plxna2	T	C	1: 194,462,935 (GRCm39)	C901R	probably damaging	Het
Ptchd3	T	A	11: 121,721,572 (GRCm39)	N148K	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,711,637 (GRCm39)	N107S	probably damaging	Het
Slc12a2	A	G	18: 58,032,427 (GRCm39)	M376V	possibly damaging	Het
Sp140l2	C	T	1: 85,237,542 (GRCm39)	V81M	possibly damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Stradb	T	A	1: 59,019,168 (GRCm39)	Y30N	possibly damaging	Het
Syne1	T	A	10: 5,359,798 (GRCm39)	Q328L	probably damaging	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Vmn2r100	T	C	17: 19,752,215 (GRCm39)	S753P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,778 (GRCm39)		noncoding transcript	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp936	A	G	7: 42,839,630 (GRCm39)	T366A	probably benign	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	possibly damaging	Het

Other mutations in Arhgap40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Arhgap40	APN	2	158,373,078 (GRCm39)	missense	probably benign	0.41
IGL00547:Arhgap40	APN	2	158,380,546 (GRCm39)	splice site	probably benign
IGL00911:Arhgap40	APN	2	158,376,636 (GRCm39)	splice site	probably benign
IGL01084:Arhgap40	APN	2	158,385,138 (GRCm39)	missense	probably damaging	1.00
IGL02037:Arhgap40	APN	2	158,376,742 (GRCm39)	missense	probably damaging	1.00
IGL02111:Arhgap40	APN	2	158,381,764 (GRCm39)	missense	probably damaging	0.99
IGL02131:Arhgap40	APN	2	158,373,859 (GRCm39)	splice site	probably null
IGL02552:Arhgap40	APN	2	158,388,721 (GRCm39)	missense	probably benign
PIT4305001:Arhgap40	UTSW	2	158,373,825 (GRCm39)	missense	probably benign	0.00
R0212:Arhgap40	UTSW	2	158,392,495 (GRCm39)	missense	probably damaging	1.00
R0508:Arhgap40	UTSW	2	158,388,670 (GRCm39)	missense	probably damaging	1.00
R0787:Arhgap40	UTSW	2	158,389,710 (GRCm39)	missense	probably benign
R1075:Arhgap40	UTSW	2	158,391,567 (GRCm39)	missense	possibly damaging	0.54
R1201:Arhgap40	UTSW	2	158,376,689 (GRCm39)	missense	probably damaging	1.00
R1511:Arhgap40	UTSW	2	158,369,081 (GRCm39)	missense	probably benign
R1519:Arhgap40	UTSW	2	158,388,721 (GRCm39)	missense	probably benign
R1567:Arhgap40	UTSW	2	158,388,719 (GRCm39)	missense	probably damaging	1.00
R1662:Arhgap40	UTSW	2	158,381,190 (GRCm39)	missense	probably damaging	1.00
R4592:Arhgap40	UTSW	2	158,388,629 (GRCm39)	missense	possibly damaging	0.88
R4678:Arhgap40	UTSW	2	158,374,226 (GRCm39)	missense	probably benign	0.01
R4818:Arhgap40	UTSW	2	158,381,639 (GRCm39)	missense	probably damaging	1.00
R4953:Arhgap40	UTSW	2	158,385,326 (GRCm39)	missense	possibly damaging	0.57
R5108:Arhgap40	UTSW	2	158,389,599 (GRCm39)	missense	probably damaging	1.00
R5578:Arhgap40	UTSW	2	158,373,126 (GRCm39)	missense	probably damaging	0.99
R6924:Arhgap40	UTSW	2	158,369,066 (GRCm39)	missense	probably benign	0.00
R6931:Arhgap40	UTSW	2	158,373,138 (GRCm39)	missense	probably benign	0.00
R7028:Arhgap40	UTSW	2	158,373,294 (GRCm39)	critical splice donor site	probably null
R7253:Arhgap40	UTSW	2	158,389,576 (GRCm39)	missense	probably benign
R7385:Arhgap40	UTSW	2	158,385,147 (GRCm39)	missense	probably damaging	1.00
R7670:Arhgap40	UTSW	2	158,373,845 (GRCm39)	missense	probably benign	0.03
R7813:Arhgap40	UTSW	2	158,380,620 (GRCm39)	missense	probably benign	0.00
R7824:Arhgap40	UTSW	2	158,376,666 (GRCm39)	missense	probably damaging	1.00
R8179:Arhgap40	UTSW	2	158,381,776 (GRCm39)	missense	probably damaging	1.00
R8559:Arhgap40	UTSW	2	158,383,721 (GRCm39)	missense	probably damaging	1.00
R8799:Arhgap40	UTSW	2	158,354,758 (GRCm39)	missense	probably benign	0.33
R8804:Arhgap40	UTSW	2	158,389,626 (GRCm39)	missense	probably benign	0.00
R9096:Arhgap40	UTSW	2	158,389,584 (GRCm39)	missense	probably benign	0.01
R9097:Arhgap40	UTSW	2	158,389,584 (GRCm39)	missense	probably benign	0.01
R9222:Arhgap40	UTSW	2	158,388,692 (GRCm39)	missense	probably damaging	1.00
R9488:Arhgap40	UTSW	2	158,391,571 (GRCm39)	missense	possibly damaging	0.78
Z1176:Arhgap40	UTSW	2	158,376,805 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTGAACACTTTTGTTGGCC -3'
(R):5'- ATGATTCAATGACTTCCCAGCTAG -3'

Sequencing Primer
(F):5'- TGTTGGCCTCAGATAAGAACTCGC -3'
(R):5'- AATGACTTCCCAGCTAGGTGCC -3'

Posted On

2015-05-14