Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Arhgef25'

59571

Institutional Source

Beutler Lab

Gene Symbol

Arhgef25

Ensembl Gene

ENSMUSG00000019467

Gene Name

Rho guanine nucleotide exchange factor (GEF) 25

Synonyms

D10Ertd610e, 2410008H17Rik, GEFT

MMRRC Submission

038480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R0242 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127182525-127190083 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127184064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 435 (G435E)

Ref Sequence

ENSEMBL: ENSMUSP00000152503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019611] [ENSMUST00000095270] [ENSMUST00000167353] [ENSMUST00000218587] [ENSMUST00000218654] [ENSMUST00000219245] [ENSMUST00000222006] [ENSMUST00000222911]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019611
AA Change: G435E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467
AA Change: G435E

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	81	103	N/A	INTRINSIC
low complexity region	146	171	N/A	INTRINSIC
RhoGEF	203	374	2.45e-49	SMART
PH	394	507	6.67e-1	SMART
low complexity region	561	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095270

SMART Domains

Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441

Domain	Start	End	E-Value	Type
low complexity region	51	78	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
Pfam:Sulfate_transp	105	497	5.5e-103	PFAM
low complexity region	512	522	N/A	INTRINSIC
Pfam:STAS	549	664	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167353
AA Change: G426E

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
AA Change: G426E

Domain	Start	End	E-Value	Type
low complexity region	72	94	N/A	INTRINSIC
low complexity region	137	162	N/A	INTRINSIC
RhoGEF	194	365	2.45e-49	SMART
PH	385	498	6.67e-1	SMART
low complexity region	552	560	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218478

Predicted Effect

probably benign
Transcript: ENSMUST00000218587

Predicted Effect

probably benign
Transcript: ENSMUST00000218654
AA Change: G396E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000218864

Predicted Effect

probably benign
Transcript: ENSMUST00000219245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221174

Predicted Effect

probably damaging
Transcript: ENSMUST00000222006
AA Change: G435E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222911

Meta Mutation Damage Score

0.1171

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (110/113)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the second heart field exhibit normal cardiac development and prenatal survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,676	D230G	probably benign	Het
4930435E12Rik	C	T	16: 38,824,567		probably benign	Het
Abhd13	A	G	8: 9,987,561	I53V	probably benign	Het
Adgrl2	A	C	3: 148,839,185		probably null	Het
Aldh16a1	G	A	7: 45,144,664	A596V	probably damaging	Het
Aldh3b2	T	A	19: 3,979,414	Y262*	probably null	Het
Ambn	A	G	5: 88,467,972	Q420R	possibly damaging	Het
Ankib1	A	C	5: 3,700,344		probably benign	Het
Arhgap9	C	A	10: 127,329,538	H430Q	probably benign	Het
Armc12	A	T	17: 28,532,392	D120V	possibly damaging	Het
Armc4	A	T	18: 7,211,516	V786D	probably damaging	Het
Asxl3	G	A	18: 22,516,681	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,895	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,840,676	T483M	probably damaging	Het
Caprin2	C	T	6: 148,842,954	S991N	probably damaging	Het
Cd96	T	C	16: 46,071,766	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,180,172	F480L	probably benign	Het
Celf5	T	C	10: 81,464,409	T258A	probably benign	Het
Cgnl1	A	G	9: 71,721,657	V577A	probably damaging	Het
Clca3b	A	G	3: 144,841,465	S304P	probably benign	Het
Cmya5	A	T	13: 93,095,600	H993Q	probably benign	Het
Cnbp	A	T	6: 87,845,764	C6S	probably damaging	Het
Col14a1	C	T	15: 55,497,511	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,964,854	N11S	probably benign	Het
Coro7	T	C	16: 4,630,178		probably benign	Het
Cpvl	T	C	6: 53,932,500	H217R	possibly damaging	Het
Cuedc1	T	C	11: 88,184,621		probably benign	Het
Cyp2c66	A	G	19: 39,141,925	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,702,451	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,727,562	D268G	probably benign	Het
Dnm1	T	A	2: 32,316,989	M535L	possibly damaging	Het
Dock7	A	T	4: 98,962,280	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,398,546	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,649,851	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,657,935	E21G	probably null	Het
Fam120b	T	A	17: 15,422,924	V655D	probably damaging	Het
Fam129a	A	G	1: 151,718,216	D884G	probably benign	Het
Fkbp5	A	T	17: 28,428,452	D136E	probably benign	Het
Gdap1l1	T	A	2: 163,447,653	Y179*	probably null	Het
Gfer	A	G	17: 24,694,303	W192R	probably damaging	Het
Gm4782	A	G	6: 50,609,858	T408A	probably benign	Het
Golgb1	C	T	16: 36,875,630	Q164*	probably null	Het
Gpnmb	A	G	6: 49,047,342	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,003,802	T414M	probably benign	Het
Hc	A	G	2: 35,036,154		probably benign	Het
Hcfc1	A	T	X: 73,948,429		probably benign	Het
Helz2	C	T	2: 181,230,430	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 94,157,815	I19F	probably benign	Het
Incenp	T	C	19: 9,893,750	T172A	unknown	Het
Jmy	A	G	13: 93,441,618	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,027,508	T36A	probably benign	Het
Kcnh4	T	C	11: 100,755,699	D267G	probably damaging	Het
Krt34	C	T	11: 100,041,331	E56K	probably damaging	Het
Krt40	T	A	11: 99,538,742	E335D	probably damaging	Het
Krt86	T	A	15: 101,476,573	Y282*	probably null	Het
Lgi3	C	T	14: 70,534,815	R267*	probably null	Het
Lnpk	A	G	2: 74,537,289		probably benign	Het
Lrp1b	T	A	2: 40,998,183	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,235,401	R542H	probably benign	Het
Mia2	T	C	12: 59,108,856	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,704,541	R132Q	probably damaging	Het
Mtbp	T	A	15: 55,577,486	N356K	possibly damaging	Het
Mum1	T	C	10: 80,234,258	S354P	probably benign	Het
Myo5b	A	G	18: 74,661,716	H552R	possibly damaging	Het
Noxred1	A	G	12: 87,226,979	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933	D390V	possibly damaging	Het
Oas1e	A	T	5: 120,791,774		probably benign	Het
Olfr398	T	C	11: 73,983,712	S299G	probably benign	Het
Olfr786	T	A	10: 129,437,348	Y179N	probably damaging	Het
Otog	G	T	7: 46,267,381	C914F	probably damaging	Het
Pank2	G	T	2: 131,280,197	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,266,735	S580T	probably benign	Het
Pdia3	T	C	2: 121,414,111	S2P	probably damaging	Het
Peli1	G	T	11: 21,142,602	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,491,935	C366*	probably null	Het
Pon3	T	A	6: 5,240,860	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,741,091	C532R	probably damaging	Het
Prph	A	T	15: 99,055,727	D174V	probably damaging	Het
Psd3	A	G	8: 67,758,086	M270T	probably damaging	Het
Pum3	A	G	19: 27,422,755		probably benign	Het
Pus1	A	T	5: 110,779,798	H30Q	probably benign	Het
Rab7	A	T	6: 88,005,132	V87E	probably damaging	Het
Rbm5	A	T	9: 107,751,708		probably benign	Het
Reln	A	G	5: 21,942,597		probably null	Het
S1pr3	A	G	13: 51,418,902	T40A	probably benign	Het
Sdk1	T	A	5: 142,143,922		probably benign	Het
Senp7	T	A	16: 56,179,521	I853N	probably damaging	Het
Serpinb6c	T	A	13: 33,899,247		probably benign	Het
Shroom1	T	G	11: 53,465,485		probably null	Het
Slc24a3	T	C	2: 145,606,664	I376T	probably benign	Het
Slc46a1	T	C	11: 78,468,667	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,533,680	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,541,233	I924N	probably damaging	Het
Slx4	T	A	16: 3,986,952	E666V	probably damaging	Het
Snrnp27	G	A	6: 86,675,593		probably benign	Het
Sorcs1	C	T	19: 50,228,221	G640E	probably damaging	Het
Sptan1	A	T	2: 30,018,401	M1725L	probably benign	Het
Sync	G	A	4: 129,293,721	R182K	probably damaging	Het
Syne2	G	A	12: 76,098,034	G1586S	probably damaging	Het
Sytl1	G	T	4: 133,253,457	T522K	probably damaging	Het
Tex2	T	A	11: 106,519,955	K414*	probably null	Het
Thegl	G	T	5: 77,016,305	E52*	probably null	Het
Thsd7a	G	A	6: 12,503,916	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,637,935	A451T	possibly damaging	Het
Ttn	A	T	2: 76,826,152		probably benign	Het
Uba2	T	C	7: 34,154,629	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,390,118	G361*	probably null	Het
Wbp2nl	C	T	15: 82,313,787	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,862,566	E212G	probably damaging	Het
Zc3h7b	T	C	15: 81,768,830		probably benign	Het

Other mutations in Arhgef25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Arhgef25	APN	10	127184170	missense	probably damaging	1.00
IGL02499:Arhgef25	APN	10	127185591	missense	probably damaging	1.00
IGL03276:Arhgef25	APN	10	127185925	missense	possibly damaging	0.78
R0021:Arhgef25	UTSW	10	127189554	missense	probably benign	0.00
R0038:Arhgef25	UTSW	10	127186865	splice site	probably benign
R0038:Arhgef25	UTSW	10	127186865	splice site	probably benign
R0106:Arhgef25	UTSW	10	127184010	critical splice donor site	probably null
R0242:Arhgef25	UTSW	10	127184064	missense	probably damaging	1.00
R0358:Arhgef25	UTSW	10	127184453	missense	probably damaging	1.00
R0505:Arhgef25	UTSW	10	127183697	missense	probably null	0.03
R0676:Arhgef25	UTSW	10	127184010	critical splice donor site	probably null
R1185:Arhgef25	UTSW	10	127183781	missense	possibly damaging	0.85
R1185:Arhgef25	UTSW	10	127183781	missense	possibly damaging	0.85
R1185:Arhgef25	UTSW	10	127183781	missense	possibly damaging	0.85
R1600:Arhgef25	UTSW	10	127185289	missense	probably damaging	0.99
R1846:Arhgef25	UTSW	10	127185864	missense	probably damaging	1.00
R2055:Arhgef25	UTSW	10	127185135	missense	probably damaging	1.00
R2254:Arhgef25	UTSW	10	127189521	missense	probably benign	0.01
R2496:Arhgef25	UTSW	10	127187194	missense	probably benign	0.08
R3836:Arhgef25	UTSW	10	127189736	missense	probably benign
R3837:Arhgef25	UTSW	10	127189736	missense	probably benign
R3838:Arhgef25	UTSW	10	127189736	missense	probably benign
R3839:Arhgef25	UTSW	10	127189736	missense	probably benign
R3950:Arhgef25	UTSW	10	127185144	missense	probably damaging	1.00
R3980:Arhgef25	UTSW	10	127187220	missense	probably damaging	1.00
R4883:Arhgef25	UTSW	10	127182933	missense	probably benign	0.43
R4964:Arhgef25	UTSW	10	127185603	missense	probably damaging	1.00
R5192:Arhgef25	UTSW	10	127185109	missense	probably damaging	1.00
R5196:Arhgef25	UTSW	10	127185109	missense	probably damaging	1.00
R5420:Arhgef25	UTSW	10	127187274	missense	probably benign	0.37
R6301:Arhgef25	UTSW	10	127185882	missense	possibly damaging	0.88
R6764:Arhgef25	UTSW	10	127184101	missense	probably damaging	1.00
R7096:Arhgef25	UTSW	10	127184028	missense	probably damaging	1.00
R7289:Arhgef25	UTSW	10	127183772	missense	possibly damaging	0.92
R7482:Arhgef25	UTSW	10	127185671	missense	probably damaging	1.00
R8170:Arhgef25	UTSW	10	127187179	missense	probably damaging	1.00
R8364:Arhgef25	UTSW	10	127189763	missense	unknown
R8477:Arhgef25	UTSW	10	127184397	missense	probably damaging	1.00
R8987:Arhgef25	UTSW	10	127182866	missense	probably damaging	1.00
R9014:Arhgef25	UTSW	10	127183738	missense	probably damaging	1.00
R9036:Arhgef25	UTSW	10	127183220	missense	probably benign
R9654:Arhgef25	UTSW	10	127186086	missense	probably damaging	1.00
X0018:Arhgef25	UTSW	10	127183699	missense	probably damaging	1.00
X0024:Arhgef25	UTSW	10	127183257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACCTGGATTGGCAATCAGAGAC -3'
(R):5'- TGAGGAATTACCTCCTTGGGCGTG -3'

Sequencing Primer
(F):5'- GAGACAGCTCTCAGATTCTGC -3'
(R):5'- TGTTGCGCCTTCTCAGAG -3'

Posted On

2013-07-11