Incidental Mutation 'R0106:Arhgef25'
ID 63344
Institutional Source Beutler Lab
Gene Symbol Arhgef25
Ensembl Gene ENSMUSG00000019467
Gene Name Rho guanine nucleotide exchange factor 25
Synonyms GEFT, D10Ertd610e, 2410008H17Rik
MMRRC Submission 038392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R0106 (G1)
Quality Score 143
Status Validated
Chromosome 10
Chromosomal Location 127018394-127025952 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 127019879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019611] [ENSMUST00000095270] [ENSMUST00000167353] [ENSMUST00000218587] [ENSMUST00000218654] [ENSMUST00000222006] [ENSMUST00000219245] [ENSMUST00000222911]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000019611
SMART Domains Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000167353
SMART Domains Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000218654
Predicted Effect probably null
Transcript: ENSMUST00000222006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219587
Predicted Effect probably benign
Transcript: ENSMUST00000219245
Predicted Effect probably benign
Transcript: ENSMUST00000218864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219428
Predicted Effect probably benign
Transcript: ENSMUST00000222911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219649
Meta Mutation Damage Score 0.9497 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (84/84)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A T 12: 112,381,628 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,221,123 (GRCm39) N276S possibly damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Aspm C A 1: 139,404,614 (GRCm39) Q1315K probably benign Het
B3galnt2 T C 13: 14,170,378 (GRCm39) S243P probably benign Het
Brf1 A G 12: 112,937,083 (GRCm39) probably benign Het
Card19 A C 13: 49,361,621 (GRCm39) D3E probably benign Het
Chd6 A G 2: 160,809,822 (GRCm39) F1480L probably damaging Het
Ckap5 T C 2: 91,408,550 (GRCm39) I915T possibly damaging Het
Ckap5 T A 2: 91,446,185 (GRCm39) I1836N probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Cramp1 A G 17: 25,191,350 (GRCm39) V1037A probably benign Het
Cspg5 C A 9: 110,075,600 (GRCm39) P112Q probably damaging Het
Cyp2g1 T A 7: 26,513,607 (GRCm39) I182N probably damaging Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Ephb6 T C 6: 41,596,528 (GRCm39) probably benign Het
Firrm T C 1: 163,810,380 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,368,858 (GRCm39) R234Q probably benign Het
Gda T C 19: 21,374,920 (GRCm39) D332G probably benign Het
Ggt7 C T 2: 155,336,813 (GRCm39) A560T possibly damaging Het
Glis3 A T 19: 28,509,268 (GRCm39) S239T possibly damaging Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
Hsdl1 T A 8: 120,292,517 (GRCm39) S254C probably damaging Het
Igsf6 T A 7: 120,673,677 (GRCm39) I18F probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kif13a G T 13: 46,978,823 (GRCm39) probably benign Het
Kif14 T C 1: 136,407,662 (GRCm39) probably benign Het
L2hgdh A T 12: 69,752,563 (GRCm39) Y239* probably null Het
Lama3 T C 18: 12,537,039 (GRCm39) V228A probably damaging Het
Lamp1 A G 8: 13,224,550 (GRCm39) T405A probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Luzp1 A G 4: 136,269,996 (GRCm39) K740E probably damaging Het
Mapk12 T C 15: 89,017,187 (GRCm39) probably benign Het
Mdga2 A T 12: 66,763,480 (GRCm39) N205K probably damaging Het
Myo1a A G 10: 127,555,749 (GRCm39) I913V probably benign Het
Nat10 A G 2: 103,587,550 (GRCm39) V55A probably damaging Het
Nlrp10 T C 7: 108,524,529 (GRCm39) E317G possibly damaging Het
Nomo1 T C 7: 45,687,056 (GRCm39) I72T probably damaging Het
Or5b98 A G 19: 12,931,720 (GRCm39) I256V probably benign Het
Or8d6 GC G 9: 39,854,119 (GRCm39) probably null Het
Pappa2 C T 1: 158,542,547 (GRCm39) C1780Y probably damaging Het
Pgm2l1 A G 7: 99,899,580 (GRCm39) M65V probably benign Het
Plec C T 15: 76,060,518 (GRCm39) E3162K probably damaging Het
Pnisr T C 4: 21,874,617 (GRCm39) probably benign Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Prss34 A T 17: 25,517,700 (GRCm39) D25V probably damaging Het
Ptpn1 T C 2: 167,818,338 (GRCm39) probably benign Het
Pygb A G 2: 150,648,123 (GRCm39) D119G probably benign Het
Racgap1 T C 15: 99,540,839 (GRCm39) T4A possibly damaging Het
Rap1gap2 A G 11: 74,326,570 (GRCm39) C166R probably benign Het
Rbm28 C A 6: 29,127,802 (GRCm39) V705L probably benign Het
Rgs1 C T 1: 144,124,287 (GRCm39) V50M probably benign Het
Rgs12 C T 5: 35,124,008 (GRCm39) T597I probably benign Het
Ros1 T C 10: 52,018,363 (GRCm39) N765S possibly damaging Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Scube2 A G 7: 109,446,115 (GRCm39) probably benign Het
Serpinb10 T A 1: 107,474,474 (GRCm39) L212Q probably damaging Het
Slc6a7 A G 18: 61,135,295 (GRCm39) V411A probably benign Het
Slco1a6 A T 6: 142,103,116 (GRCm39) probably benign Het
Smc1b A T 15: 84,955,020 (GRCm39) D1077E probably damaging Het
Srek1 G A 13: 103,880,131 (GRCm39) H476Y unknown Het
Strn3 A G 12: 51,668,571 (GRCm39) V673A probably benign Het
Tepsin T C 11: 119,982,637 (GRCm39) probably null Het
Timmdc1 A C 16: 38,342,724 (GRCm39) L58R probably damaging Het
Tmem132c T C 5: 127,631,733 (GRCm39) V664A possibly damaging Het
Tmem241 A T 18: 12,239,066 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,800,277 (GRCm39) D602G probably damaging Het
Trbv15 T C 6: 41,118,199 (GRCm39) probably benign Het
Wdr70 A T 15: 8,049,068 (GRCm39) probably null Het
Other mutations in Arhgef25
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4964:Arhgef25 UTSW 10 127,021,472 (GRCm39) missense probably damaging 1.00
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'- TCACCGTTGAGAAAGTCACGCTG -3'
(R):5'- TTGGTTACAGAGCCTGAAGCTGGG -3'

Sequencing Primer
(F):5'- TCACCTGGATTGGCAATCAGAG -3'
(R):5'- CCTGAAGCTGGGGGTCTG -3'
Posted On 2013-07-30