Incidental Mutation 'R8364:Arhgef25'
ID 646107
Institutional Source Beutler Lab
Gene Symbol Arhgef25
Ensembl Gene ENSMUSG00000019467
Gene Name Rho guanine nucleotide exchange factor 25
Synonyms GEFT, D10Ertd610e, 2410008H17Rik
MMRRC Submission 067873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R8364 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127018394-127025952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127025632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 3 (Q3K)
Ref Sequence ENSEMBL: ENSMUSP00000126339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019611] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000137151] [ENSMUST00000144322] [ENSMUST00000167353] [ENSMUST00000218587] [ENSMUST00000218654] [ENSMUST00000219245] [ENSMUST00000222006]
AlphaFold no structure available at present
Predicted Effect probably benign
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: ENSMUST00000038217
SMART Domains Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000130855
SMART Domains Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000167353
AA Change: Q3K
SMART Domains Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
AA Change: Q3K

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 unknown
Transcript: ENSMUST00000218587
AA Change: Q3K
Predicted Effect probably benign
Transcript: ENSMUST00000218654
Predicted Effect probably benign
Transcript: ENSMUST00000218864
Predicted Effect probably benign
Transcript: ENSMUST00000219245
Predicted Effect probably benign
Transcript: ENSMUST00000222006
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,815,396 (GRCm39) N761K probably damaging Het
Amotl1 G A 9: 14,556,218 (GRCm39) A36V probably benign Het
Apol7a A G 15: 77,273,820 (GRCm39) V214A possibly damaging Het
Bpifc A T 10: 85,797,891 (GRCm39) I456N probably damaging Het
Cers6 C T 2: 68,692,083 (GRCm39) A35V possibly damaging Het
Corin T A 5: 72,462,274 (GRCm39) Y986F probably benign Het
Csmd3 A T 15: 48,536,837 (GRCm39) Y122N probably damaging Het
Ddit4l T A 3: 137,329,996 (GRCm39) L18* probably null Het
Epb41l3 T C 17: 69,573,429 (GRCm39) probably null Het
Fam110a C T 2: 151,812,338 (GRCm39) R144H probably damaging Het
Greb1l G T 18: 10,529,687 (GRCm39) V890L possibly damaging Het
Hivep3 A T 4: 119,956,639 (GRCm39) M1652L probably benign Het
Ighv1-19 G T 12: 114,672,546 (GRCm39) Q25K possibly damaging Het
Itprid2 T C 2: 79,481,787 (GRCm39) L489P probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Krr1 A G 10: 111,813,104 (GRCm39) R160G probably damaging Het
Lama3 A G 18: 12,661,404 (GRCm39) D515G probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lgalsl T A 11: 20,781,009 (GRCm39) M1L possibly damaging Het
Lrtm2 T A 6: 119,294,259 (GRCm39) T291S probably benign Het
Morc2b G A 17: 33,357,214 (GRCm39) T186I probably benign Het
Mup20 G T 4: 61,969,768 (GRCm39) S157R probably damaging Het
Nlgn1 A G 3: 25,490,140 (GRCm39) V529A probably benign Het
Nps T A 7: 134,870,543 (GRCm39) W22R probably benign Het
Nradd C A 9: 110,450,536 (GRCm39) V214L probably damaging Het
Ogfrl1 G A 1: 23,414,824 (GRCm39) Q228* probably null Het
Or10g9 T C 9: 39,911,660 (GRCm39) T288A probably benign Het
Or56a3b T A 7: 104,770,910 (GRCm39) I82N probably damaging Het
Or5m11b G A 2: 85,806,358 (GRCm39) C257Y possibly damaging Het
Ripor2 A G 13: 24,894,176 (GRCm39) T735A possibly damaging Het
Rnase6 C A 14: 51,367,910 (GRCm39) P101T probably benign Het
Slc34a2 A T 5: 53,225,716 (GRCm39) Y455F possibly damaging Het
Stxbp1 T C 2: 32,696,774 (GRCm39) M330V possibly damaging Het
Sypl2 T C 3: 108,125,050 (GRCm39) T104A possibly damaging Het
Tenm4 G A 7: 96,421,313 (GRCm39) probably null Het
Tnfrsf11a C A 1: 105,745,412 (GRCm39) T150K probably damaging Het
Tpsg1 T C 17: 25,593,230 (GRCm39) L311P possibly damaging Het
Ttc7b T C 12: 100,291,817 (GRCm39) S766G probably benign Het
Vmn2r83 A G 10: 79,316,037 (GRCm39) T478A probably benign Het
Wdr1 G A 5: 38,685,192 (GRCm39) T593I possibly damaging Het
Zfp407 A G 18: 84,570,993 (GRCm39) probably null Het
Zfp872 G A 9: 22,111,540 (GRCm39) G340R probably damaging 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
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
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
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'- TCTGTCTTGGTACTCCCAGG -3'
(R):5'- GCCCTGAAACTTGAAGCAGG -3'

Sequencing Primer
(F):5'- TTGGTACTCCCAGGCCCTAAG -3'
(R):5'- CTTGAAGCAGGGTAGGGGTCC -3'
Posted On 2020-09-02