Mutagenetix > Incidental Mutation

Incidental Mutation 'R0212:Arhgap40'

33518

Institutional Source

Beutler Lab

Gene Symbol

Arhgap40

Ensembl Gene

ENSMUSG00000074625

Gene Name

Rho GTPase activating protein 40

Synonyms

Gm14203

MMRRC Submission

038463-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R0212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158354716-158392682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 158392495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 656 (L656V)

Ref Sequence

ENSEMBL: ENSMUSP00000130349 (fasta)

Gene Model

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

AlphaFold

E9Q6X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099133
AA Change: L659V

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

SMART Domains

Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: L659V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135838

Predicted Effect

probably damaging
Transcript: ENSMUST00000165398
AA Change: L656V

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

SMART Domains

Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: L656V

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,006,254 (GRCm39)		probably null	Het
Adat1	T	A	8: 112,713,840 (GRCm39)	D113V	possibly damaging	Het
Atg2a	T	C	19: 6,296,584 (GRCm39)	I330T	probably damaging	Het
Cad	A	G	5: 31,235,454 (GRCm39)	D2137G	probably damaging	Het
Cd8a	G	A	6: 71,350,633 (GRCm39)	E33K	probably benign	Het
Cemip	C	A	7: 83,622,398 (GRCm39)	G594C	probably damaging	Het
Chd6	T	A	2: 160,894,767 (GRCm39)	D31V	probably damaging	Het
Cmpk1	A	T	4: 114,822,216 (GRCm39)	M111K	possibly damaging	Het
Crispld2	T	G	8: 120,737,370 (GRCm39)	H40Q	probably benign	Het
Depdc5	A	G	5: 33,069,586 (GRCm39)	T441A	probably benign	Het
Dpm1	T	C	2: 168,069,414 (GRCm39)	N5S	probably benign	Het
Ercc4	A	G	16: 12,941,196 (GRCm39)		probably null	Het
Fam83f	A	T	15: 80,574,779 (GRCm39)	M229L	probably benign	Het
Fgd5	A	T	6: 91,965,189 (GRCm39)	D474V	probably damaging	Het
Fgf21	G	T	7: 45,263,526 (GRCm39)	P184Q	probably benign	Het
Fry	A	T	5: 150,419,862 (GRCm39)	D1008V	probably damaging	Het
Gjd2	T	C	2: 113,841,953 (GRCm39)	T175A	probably benign	Het
Gphn	C	T	12: 78,684,326 (GRCm39)	T577I	probably damaging	Het
Ifi207	A	T	1: 173,563,964 (GRCm39)	N18K	possibly damaging	Het
Ifne	T	C	4: 88,797,972 (GRCm39)	R149G	possibly damaging	Het
Ift80	A	T	3: 68,847,506 (GRCm39)	L330H	probably benign	Het
Inpp4b	A	T	8: 82,497,546 (GRCm39)	H122L	probably benign	Het
Inpp5e	T	C	2: 26,298,352 (GRCm39)		probably null	Het
Ism1	T	C	2: 139,582,177 (GRCm39)	L163S	probably benign	Het
Itga11	T	A	9: 62,653,251 (GRCm39)	V375E	probably benign	Het
Itpr3	T	G	17: 27,308,293 (GRCm39)	F306V	probably damaging	Het
Kif19a	A	T	11: 114,675,736 (GRCm39)	I403F	possibly damaging	Het
Klf12	A	T	14: 100,260,298 (GRCm39)	S144T	probably benign	Het
Lyst	C	T	13: 13,810,570 (GRCm39)	H747Y	possibly damaging	Het
Mccc2	A	G	13: 100,091,163 (GRCm39)	Y445H	probably benign	Het
Mei1	G	A	15: 81,980,132 (GRCm39)		probably null	Het
Metap2	T	A	10: 93,697,242 (GRCm39)	K479N	probably damaging	Het
Mief2	A	T	11: 60,621,493 (GRCm39)	D62V	probably damaging	Het
Mtrf1	A	G	14: 79,656,719 (GRCm39)	D407G	probably benign	Het
Myo3a	A	G	2: 22,296,659 (GRCm39)	R210G	probably damaging	Het
Nkx2-2	T	C	2: 147,026,090 (GRCm39)	H216R	probably damaging	Het
Nos1	A	G	5: 118,048,277 (GRCm39)	E694G	possibly damaging	Het
Nptn	A	T	9: 58,535,164 (GRCm39)	Y103F	probably benign	Het
Nrxn1	A	G	17: 90,670,186 (GRCm39)		probably benign	Het
Numbl	T	C	7: 26,980,184 (GRCm39)	S389P	probably damaging	Het
Or10d5	A	G	9: 39,861,236 (GRCm39)	V277A	probably benign	Het
Or1q1	T	A	2: 36,887,644 (GRCm39)	V274E	possibly damaging	Het
Or1q1	A	T	2: 36,887,335 (GRCm39)	D171V	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5d16	A	G	2: 87,773,435 (GRCm39)	F179S	probably damaging	Het
Or5i1	C	T	2: 87,613,826 (GRCm39)	P314L	unknown	Het
Or8g20	C	A	9: 39,396,384 (GRCm39)	S55I	probably damaging	Het
Osm	T	G	11: 4,188,465 (GRCm39)	S31A	probably benign	Het
Paqr4	T	C	17: 23,957,294 (GRCm39)	M70V	probably benign	Het
Pikfyve	T	A	1: 65,302,064 (GRCm39)	Y1607N	probably benign	Het
Plec	A	C	15: 76,075,505 (GRCm39)	Y402*	probably null	Het
Polq	A	G	16: 36,887,216 (GRCm39)	K1631E	probably damaging	Het
Pou6f1	A	G	15: 100,478,696 (GRCm39)	V129A	possibly damaging	Het
Prm2	A	G	16: 10,609,463 (GRCm39)		probably benign	Het
Prtn3	A	G	10: 79,716,971 (GRCm39)	Y112C	probably damaging	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rps6ka5	A	T	12: 100,519,428 (GRCm39)		probably null	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Slc10a1	A	C	12: 81,014,486 (GRCm39)	L78R	possibly damaging	Het
Slc26a5	A	T	5: 22,028,547 (GRCm39)	Y340*	probably null	Het
Sptbn2	T	C	19: 4,796,970 (GRCm39)		probably null	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Tmem131l	A	T	3: 83,820,575 (GRCm39)	S1226T	probably benign	Het
Togaram2	C	T	17: 72,031,978 (GRCm39)	L866F	probably damaging	Het
Txndc17	A	G	11: 72,098,558 (GRCm39)	T37A	probably benign	Het
Vmn2r105	C	A	17: 20,428,827 (GRCm39)	V750F	possibly damaging	Het
Vmn2r54	T	A	7: 12,366,424 (GRCm39)	Y170F	probably benign	Het
Wrnip1	T	C	13: 33,005,889 (GRCm39)	V577A	probably benign	Het
Zc3h7b	A	G	15: 81,660,529 (GRCm39)	T226A	probably benign	Het
Zfp948	T	C	17: 21,808,422 (GRCm39)	I538T	probably benign	Het
Zzef1	A	G	11: 72,764,736 (GRCm39)	E1401G	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
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
R4120:Arhgap40	UTSW	2	158,374,250 (GRCm39)	missense	probably benign	0.02
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'- AGCCACGGCAAGGCTCCTATAATC -3'
(R):5'- GCCTGTTCCTGAGAGAGTTGTCAC -3'

Sequencing Primer
(F):5'- CAAGGCTCCTATAATCAGAAGGTG -3'
(R):5'- ATTGTGGACAAACCCCTGG -3'

Posted On

2013-05-09