Mutagenetix > Incidental Mutations

Incidental Mutation 'R3950:Arhgef25'

307882

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

040930-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127182525-127190083 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127185144 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 291 (Y291C)

Ref Sequence

ENSEMBL: ENSMUSP00000152503 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019611
AA Change: Y291C

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

SMART Domains

Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467
AA Change: Y291C

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 damaging
Transcript: ENSMUST00000167353
AA Change: Y282C

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

SMART Domains

Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
AA Change: Y282C

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 damaging
Transcript: ENSMUST00000218654
AA Change: Y252C

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

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

probably damaging
Transcript: ENSMUST00000222006
AA Change: Y291C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220295

Predicted Effect

probably benign
Transcript: ENSMUST00000222911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221174

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	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
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
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
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'- ATTCGCTGCACTGGTTTAATGAG -3'
(R):5'- GGTTGGCTCAGCTGTTCATC -3'

Sequencing Primer
(F):5'- AGGTCATTGAGCTGCAGTC -3'
(R):5'- GGCTCAGCTGTTCATCAAACATG -3'

Posted On

2015-04-17