Mutagenetix > Incidental Mutations

Incidental Mutation 'R5124:Rhov'

470601

Institutional Source

Beutler Lab

Gene Symbol

Rhov

Ensembl Gene

ENSMUSG00000034226

Gene Name

ras homolog family member V

Synonyms

Arhv, A030005A06Rik

MMRRC Submission

042712-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5124 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

119269201-119271272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119271087 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 13 (P13T)

Ref Sequence

ENSEMBL: ENSMUSP00000041411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037360]

Predicted Effect

unknown
Transcript: ENSMUST00000037360
AA Change: P13T

SMART Domains

Protein: ENSMUSP00000041411
Gene: ENSMUSG00000034226
AA Change: P13T

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
RHO	34	208	3.12e-89	SMART

Meta Mutation Damage Score

0.0654

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	A	G	9: 59,315,278	D496G	possibly damaging	Het
Agbl4	A	G	4: 111,656,328	M424V	probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Bpifa3	C	T	2: 154,138,137	Q230*	probably null	Het
Cog4	G	T	8: 110,847,193	R48L	probably damaging	Het
Cop1	A	G	1: 159,278,112	Y33C	probably damaging	Het
Cyp26a1	A	T	19: 37,701,217	I454L	probably benign	Het
Ddr1	T	C	17: 35,683,597	H762R	probably damaging	Het
Dnajc2	A	T	5: 21,763,484	S328T	probably benign	Het
Dppa2	G	T	16: 48,311,623	V28F	probably damaging	Het
Dusp15	T	A	2: 152,951,355	M1L	possibly damaging	Het
Eml5	G	A	12: 98,792,042	T1875M	probably damaging	Het
Fam186a	A	G	15: 99,943,096	S1756P	possibly damaging	Het
Gm436	A	T	4: 144,674,719	I65N	probably damaging	Het
Gm5431	T	A	11: 48,889,039	Q630L	probably benign	Het
Gm9733	T	A	3: 15,320,579	R88*	probably null	Het
H6pd	A	G	4: 149,982,055	S625P	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnj6	G	T	16: 94,832,659	P180T	probably damaging	Het
Lpin3	T	A	2: 160,897,061	M263K	probably benign	Het
Lrp2	A	T	2: 69,501,490	D1640E	probably damaging	Het
Lypd2	C	T	15: 74,732,498	A74T	probably benign	Het
Map4k1	T	C	7: 28,988,832	L223P	probably damaging	Het
Myh7	A	T	14: 54,985,742	Y715*	probably null	Het
Myo9b	T	C	8: 71,355,839	S1697P	probably damaging	Het
Neb	T	C	2: 52,281,498	E1661G	probably damaging	Het
Nek8	A	T	11: 78,172,939	M80K	probably damaging	Het
Nup188	T	A	2: 30,330,935	L979Q	probably damaging	Het
Olfr1218	A	T	2: 89,055,087	V113D	probably damaging	Het
P4htm	T	A	9: 108,581,942	S264C	possibly damaging	Het
Pcdha8	A	G	18: 36,993,715	T417A	probably benign	Het
Pclo	T	C	5: 14,677,392		probably benign	Het
Prox1	T	A	1: 190,161,279	N323I	possibly damaging	Het
Prune2	A	T	19: 17,199,910	R222S	probably damaging	Het
Psmd2	C	A	16: 20,652,698	R100S	possibly damaging	Het
Qrich2	A	T	11: 116,446,773	M1963K	probably damaging	Het
Rbm39	C	T	2: 156,159,162	G324D	probably damaging	Het
Rhobtb1	A	T	10: 69,269,901		probably null	Het
Sec14l3	A	G	11: 4,075,209	D273G	possibly damaging	Het
Slco2a1	T	A	9: 103,050,166	I86N	probably damaging	Het
Smg1	A	T	7: 118,213,012	S19T	probably benign	Het
Stk32a	T	C	18: 43,305,017	S194P	probably benign	Het
Syna	G	A	5: 134,559,570	S175L	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem151b	T	C	17: 45,547,119	Y67C	probably damaging	Het
Tshz1	C	T	18: 84,015,467	R272Q	probably damaging	Het
Tti1	A	G	2: 158,008,195	S375P	probably damaging	Het
Vcan	T	C	13: 89,725,517	K73E	probably damaging	Het
Vmn1r202	C	T	13: 22,501,750	V166I	probably benign	Het
Vmn2r10	A	G	5: 109,006,420	V6A	probably benign	Het
Zfhx4	A	G	3: 5,242,047	D111G	probably damaging	Het
Zhx1	C	G	15: 58,054,074	G259R	probably damaging	Het

Other mutations in Rhov

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Rhov	APN	2	119270738	missense	probably benign	0.15
R0732:Rhov	UTSW	2	119271014	missense	probably damaging	1.00
R1646:Rhov	UTSW	2	119271020	missense	probably damaging	1.00
R4997:Rhov	UTSW	2	119270468	missense	probably damaging	1.00
R5993:Rhov	UTSW	2	119270052	missense	probably damaging	1.00
R6168:Rhov	UTSW	2	119270972	missense	probably damaging	1.00
Z1177:Rhov	UTSW	2	119270415	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTACTGAATGCACAACCCTTC -3'
(R):5'- CGGGACCCAACTTATATACCTTC -3'

Sequencing Primer
(F):5'- CCGGGGCTATAGAACATACCG -3'
(R):5'- GACCCAACTTATATACCTTCTGTCAG -3'

Posted On

2017-03-23