Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Arhgef25'

383808

Institutional Source

Beutler Lab

Gene Symbol

Arhgef25

Ensembl Gene

ENSMUSG00000019467

Gene Name

Rho guanine nucleotide exchange factor 25

Synonyms

GEFT, D10Ertd610e, 2410008H17Rik

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127018394-127025952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127021472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 249 (I249F)

Ref Sequence

ENSEMBL: ENSMUSP00000019611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019611] [ENSMUST00000038217] [ENSMUST00000095270] [ENSMUST00000130855] [ENSMUST00000167353] [ENSMUST00000218587] [ENSMUST00000222006] [ENSMUST00000218654] [ENSMUST00000219245]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019611
AA Change: I249F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467
AA Change: I249F

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: 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: 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 damaging
Transcript: ENSMUST00000167353
AA Change: I240F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
AA Change: I240F

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: ENSMUST00000222006
AA Change: I249F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218654
AA Change: I210F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219587

Predicted Effect

probably benign
Transcript: ENSMUST00000219245

Predicted Effect

probably benign
Transcript: ENSMUST00000218864

Meta Mutation Damage Score

0.6865

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het

Other mutations in Arhgef25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Arhgef25	APN	10	127,020,039 (GRCm39)	missense	probably damaging	1.00
IGL02499:Arhgef25	APN	10	127,021,460 (GRCm39)	missense	probably damaging	1.00
IGL03276:Arhgef25	APN	10	127,021,794 (GRCm39)	missense	possibly damaging	0.78
R0021:Arhgef25	UTSW	10	127,025,423 (GRCm39)	missense	probably benign	0.00
R0038:Arhgef25	UTSW	10	127,022,734 (GRCm39)	splice site	probably benign
R0038:Arhgef25	UTSW	10	127,022,734 (GRCm39)	splice site	probably benign
R0106:Arhgef25	UTSW	10	127,019,879 (GRCm39)	critical splice donor site	probably null
R0242:Arhgef25	UTSW	10	127,019,933 (GRCm39)	missense	probably damaging	1.00
R0242:Arhgef25	UTSW	10	127,019,933 (GRCm39)	missense	probably damaging	1.00
R0358:Arhgef25	UTSW	10	127,020,322 (GRCm39)	missense	probably damaging	1.00
R0505:Arhgef25	UTSW	10	127,019,566 (GRCm39)	missense	probably null	0.03
R0676:Arhgef25	UTSW	10	127,019,879 (GRCm39)	critical splice donor site	probably null
R1185:Arhgef25	UTSW	10	127,019,650 (GRCm39)	missense	possibly damaging	0.85
R1185:Arhgef25	UTSW	10	127,019,650 (GRCm39)	missense	possibly damaging	0.85
R1185:Arhgef25	UTSW	10	127,019,650 (GRCm39)	missense	possibly damaging	0.85
R1600:Arhgef25	UTSW	10	127,021,158 (GRCm39)	missense	probably damaging	0.99
R1846:Arhgef25	UTSW	10	127,021,733 (GRCm39)	missense	probably damaging	1.00
R2055:Arhgef25	UTSW	10	127,021,004 (GRCm39)	missense	probably damaging	1.00
R2254:Arhgef25	UTSW	10	127,025,390 (GRCm39)	missense	probably benign	0.01
R2496:Arhgef25	UTSW	10	127,023,063 (GRCm39)	missense	probably benign	0.08
R3836:Arhgef25	UTSW	10	127,025,605 (GRCm39)	missense	probably benign
R3837:Arhgef25	UTSW	10	127,025,605 (GRCm39)	missense	probably benign
R3838:Arhgef25	UTSW	10	127,025,605 (GRCm39)	missense	probably benign
R3839:Arhgef25	UTSW	10	127,025,605 (GRCm39)	missense	probably benign
R3950:Arhgef25	UTSW	10	127,021,013 (GRCm39)	missense	probably damaging	1.00
R3980:Arhgef25	UTSW	10	127,023,089 (GRCm39)	missense	probably damaging	1.00
R4883:Arhgef25	UTSW	10	127,018,802 (GRCm39)	missense	probably benign	0.43
R5192:Arhgef25	UTSW	10	127,020,978 (GRCm39)	missense	probably damaging	1.00
R5196:Arhgef25	UTSW	10	127,020,978 (GRCm39)	missense	probably damaging	1.00
R5420:Arhgef25	UTSW	10	127,023,143 (GRCm39)	missense	probably benign	0.37
R6301:Arhgef25	UTSW	10	127,021,751 (GRCm39)	missense	possibly damaging	0.88
R6764:Arhgef25	UTSW	10	127,019,970 (GRCm39)	missense	probably damaging	1.00
R7096:Arhgef25	UTSW	10	127,019,897 (GRCm39)	missense	probably damaging	1.00
R7289:Arhgef25	UTSW	10	127,019,641 (GRCm39)	missense	possibly damaging	0.92
R7482:Arhgef25	UTSW	10	127,021,540 (GRCm39)	missense	probably damaging	1.00
R8170:Arhgef25	UTSW	10	127,023,048 (GRCm39)	missense	probably damaging	1.00
R8364:Arhgef25	UTSW	10	127,025,632 (GRCm39)	missense	unknown
R8477:Arhgef25	UTSW	10	127,020,266 (GRCm39)	missense	probably damaging	1.00
R8987:Arhgef25	UTSW	10	127,018,735 (GRCm39)	missense	probably damaging	1.00
R9014:Arhgef25	UTSW	10	127,019,607 (GRCm39)	missense	probably damaging	1.00
R9036:Arhgef25	UTSW	10	127,019,089 (GRCm39)	missense	probably benign
R9654:Arhgef25	UTSW	10	127,021,955 (GRCm39)	missense	probably damaging	1.00
X0018:Arhgef25	UTSW	10	127,019,568 (GRCm39)	missense	probably damaging	1.00
X0024:Arhgef25	UTSW	10	127,019,126 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTCAGCTACACGCCCTAG -3'
(R):5'- GAGGTAGTTCTCGCTTCTCC -3'

Sequencing Primer
(F):5'- ACACGCCCTAGTCGCTC -3'
(R):5'- GGATATTTTTCAGATAGGTCGCTCCC -3'

Posted On

2016-04-27