Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Arhgef25'

474357

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

040779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R3838 (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 127189736 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 12 (T12A)

Ref Sequence

ENSEMBL: ENSMUSP00000126339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019611] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000137151] [ENSMUST00000144322] [ENSMUST00000167353] [ENSMUST00000218587] [ENSMUST00000218654] [ENSMUST00000219245] [ENSMUST00000222006]

Predicted Effect

probably benign
Transcript: ENSMUST00000019611

SMART Domains

Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467

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: ENSMUST00000038217

SMART Domains

Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	64	72	N/A	INTRINSIC
coiled coil region	73	104	N/A	INTRINSIC
low complexity region	119	154	N/A	INTRINSIC
RING	164	202	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116229

SMART Domains

Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	64	72	N/A	INTRINSIC
coiled coil region	73	104	N/A	INTRINSIC
low complexity region	119	154	N/A	INTRINSIC
RING	164	202	1.04e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125254

Predicted Effect

probably benign
Transcript: ENSMUST00000130855

SMART Domains

Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	67	75	N/A	INTRINSIC
coiled coil region	76	107	N/A	INTRINSIC
low complexity region	122	157	N/A	INTRINSIC
RING	167	205	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137151

Predicted Effect

probably benign
Transcript: ENSMUST00000144322

SMART Domains

Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	67	75	N/A	INTRINSIC
coiled coil region	76	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167353
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
AA Change: T12A

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

unknown
Transcript: ENSMUST00000218587
AA Change: T12A

Predicted Effect

probably benign
Transcript: ENSMUST00000218654

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

probably benign
Transcript: ENSMUST00000222006

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	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
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
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
X0018:Arhgef25	UTSW	10	127183699	missense	probably damaging	1.00
X0024:Arhgef25	UTSW	10	127183257	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14