Incidental Mutation 'R6593:Arhgef10'
ID 523474
Institutional Source Beutler Lab
Gene Symbol Arhgef10
Ensembl Gene ENSMUSG00000071176
Gene Name Rho guanine nucleotide exchange factor 10
Synonyms 6430549H08Rik
MMRRC Submission 044717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6593 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 14961663-15051085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15012564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 296 (I296T)
Ref Sequence ENSEMBL: ENSMUSP00000125526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000161162] [ENSMUST00000163062]
AlphaFold Q8C033
Predicted Effect possibly damaging
Transcript: ENSMUST00000084207
AA Change: I624T

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: I624T

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 236 245 N/A INTRINSIC
low complexity region 247 265 N/A INTRINSIC
coiled coil region 308 335 N/A INTRINSIC
RhoGEF 401 583 9.79e-58 SMART
Blast:PH 617 829 6e-47 BLAST
low complexity region 1256 1272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110800
AA Change: I585T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: I585T

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 236 245 N/A INTRINSIC
low complexity region 247 265 N/A INTRINSIC
low complexity region 280 291 N/A INTRINSIC
RhoGEF 362 544 9.79e-58 SMART
Blast:PH 578 790 8e-47 BLAST
low complexity region 1217 1233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161162
SMART Domains Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 235 244 N/A INTRINSIC
low complexity region 246 264 N/A INTRINSIC
coiled coil region 307 334 N/A INTRINSIC
RhoGEF 400 579 2.2e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162958
Predicted Effect possibly damaging
Transcript: ENSMUST00000163062
AA Change: I296T

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: I296T

DomainStartEndE-ValueType
RhoGEF 73 255 9.79e-58 SMART
Blast:PH 289 501 2e-47 BLAST
low complexity region 899 915 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 96.6%
  • 20x: 89.6%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,903,491 (GRCm39) N1047K probably benign Het
AI597479 C A 1: 43,150,408 (GRCm39) Q173K probably damaging Het
Atg2b A G 12: 105,611,107 (GRCm39) S1275P probably damaging Het
Cep290 T C 10: 100,344,638 (GRCm39) M485T probably benign Het
Clca3a2 A G 3: 144,514,338 (GRCm39) probably null Het
Clcn6 C T 4: 148,095,226 (GRCm39) S731N probably benign Het
Clic6 A G 16: 92,325,005 (GRCm39) I388V possibly damaging Het
Cpsf4l G T 11: 113,600,192 (GRCm39) probably benign Het
Dlg5 G A 14: 24,200,720 (GRCm39) H1350Y probably benign Het
Dnase2b T C 3: 146,292,666 (GRCm39) Y169C probably damaging Het
Elavl3 C T 9: 21,929,843 (GRCm39) V354M possibly damaging Het
Farp2 A C 1: 93,497,662 (GRCm39) I231L possibly damaging Het
Gcc2 T A 10: 58,107,329 (GRCm39) M755K probably damaging Het
Gpr88 T C 3: 116,046,273 (GRCm39) T13A unknown Het
Gstm3 T A 3: 107,875,511 (GRCm39) N40Y probably benign Het
Krtap5-2 A T 7: 141,728,697 (GRCm39) C328S unknown Het
Lpar1 A T 4: 58,486,605 (GRCm39) V222E probably damaging Het
Neto2 A G 8: 86,396,175 (GRCm39) S192P probably damaging Het
Odad1 T A 7: 45,596,808 (GRCm39) D378E probably damaging Het
Or52n3 C T 7: 104,530,640 (GRCm39) T242I probably damaging Het
Pcdhgb1 G T 18: 37,815,134 (GRCm39) D542Y probably damaging Het
Phldb2 G A 16: 45,645,790 (GRCm39) Q264* probably null Het
Ptgs2 G A 1: 149,976,784 (GRCm39) D6N possibly damaging Het
Rasef G T 4: 73,663,327 (GRCm39) H167N probably damaging Het
Rbbp4 A G 4: 129,216,168 (GRCm39) L193S probably damaging Het
Rigi T C 4: 40,226,651 (GRCm39) I169V probably benign Het
Sec24d T C 3: 123,147,061 (GRCm39) F673S probably damaging Het
Slc9b1 T C 3: 135,063,219 (GRCm39) M1T probably null Het
Stra6 A G 9: 58,059,262 (GRCm39) T542A probably benign Het
Stt3b T C 9: 115,081,579 (GRCm39) Y569C probably damaging Het
Traf3ip1 A G 1: 91,455,417 (GRCm39) K626R possibly damaging Het
Washc2 T A 6: 116,236,210 (GRCm39) I1227N probably damaging Het
Xpo7 G A 14: 70,919,802 (GRCm39) A671V probably damaging Het
Zfp799 A G 17: 33,038,764 (GRCm39) Y501H probably damaging Het
Other mutations in Arhgef10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Arhgef10 APN 8 15,025,006 (GRCm39) missense probably damaging 1.00
IGL00823:Arhgef10 APN 8 14,990,378 (GRCm39) unclassified probably benign
IGL01012:Arhgef10 APN 8 15,029,977 (GRCm39) missense probably damaging 0.99
IGL01311:Arhgef10 APN 8 15,041,054 (GRCm39) splice site probably null
IGL01596:Arhgef10 APN 8 15,049,468 (GRCm39) nonsense probably null
IGL01888:Arhgef10 APN 8 15,012,577 (GRCm39) nonsense probably null
IGL01938:Arhgef10 APN 8 15,041,062 (GRCm39) missense probably benign 0.09
IGL02151:Arhgef10 APN 8 14,978,889 (GRCm39) missense possibly damaging 0.77
IGL02274:Arhgef10 APN 8 14,997,205 (GRCm39) missense probably damaging 0.99
IGL02369:Arhgef10 APN 8 15,047,551 (GRCm39) missense probably damaging 1.00
IGL02411:Arhgef10 APN 8 15,004,819 (GRCm39) missense probably benign 0.01
IGL02500:Arhgef10 APN 8 15,011,238 (GRCm39) missense probably damaging 1.00
IGL02597:Arhgef10 APN 8 14,980,198 (GRCm39) missense probably benign 0.27
IGL02602:Arhgef10 APN 8 14,980,198 (GRCm39) missense probably benign 0.27
IGL02743:Arhgef10 APN 8 14,980,198 (GRCm39) missense probably benign 0.27
IGL02744:Arhgef10 APN 8 14,980,198 (GRCm39) missense probably benign 0.27
IGL03113:Arhgef10 APN 8 15,004,505 (GRCm39) missense probably damaging 1.00
IGL03248:Arhgef10 APN 8 14,978,847 (GRCm39) missense probably benign 0.00
P0028:Arhgef10 UTSW 8 14,978,925 (GRCm39) missense possibly damaging 0.79
P4748:Arhgef10 UTSW 8 14,978,925 (GRCm39) missense possibly damaging 0.79
R0049:Arhgef10 UTSW 8 15,004,446 (GRCm39) missense probably damaging 1.00
R0197:Arhgef10 UTSW 8 15,012,636 (GRCm39) missense probably damaging 1.00
R0479:Arhgef10 UTSW 8 15,041,070 (GRCm39) missense probably damaging 0.98
R0701:Arhgef10 UTSW 8 15,012,636 (GRCm39) missense probably damaging 1.00
R0966:Arhgef10 UTSW 8 14,990,343 (GRCm39) missense probably benign 0.01
R1367:Arhgef10 UTSW 8 14,990,225 (GRCm39) missense probably damaging 1.00
R1572:Arhgef10 UTSW 8 15,041,211 (GRCm39) missense possibly damaging 0.53
R1631:Arhgef10 UTSW 8 14,997,157 (GRCm39) missense probably damaging 0.98
R1766:Arhgef10 UTSW 8 15,029,836 (GRCm39) missense probably damaging 1.00
R1920:Arhgef10 UTSW 8 15,006,987 (GRCm39) splice site probably benign
R2051:Arhgef10 UTSW 8 14,995,320 (GRCm39) missense probably null 1.00
R2088:Arhgef10 UTSW 8 15,033,898 (GRCm39) missense possibly damaging 0.46
R2118:Arhgef10 UTSW 8 14,984,820 (GRCm39) missense probably damaging 0.99
R2120:Arhgef10 UTSW 8 14,984,820 (GRCm39) missense probably damaging 0.99
R2121:Arhgef10 UTSW 8 14,984,820 (GRCm39) missense probably damaging 0.99
R2122:Arhgef10 UTSW 8 14,984,820 (GRCm39) missense probably damaging 0.99
R2124:Arhgef10 UTSW 8 14,984,820 (GRCm39) missense probably damaging 0.99
R2318:Arhgef10 UTSW 8 14,978,855 (GRCm39) missense probably damaging 1.00
R2870:Arhgef10 UTSW 8 15,025,666 (GRCm39) missense probably benign 0.01
R2870:Arhgef10 UTSW 8 15,025,666 (GRCm39) missense probably benign 0.01
R2870:Arhgef10 UTSW 8 15,025,093 (GRCm39) critical splice donor site probably null
R2870:Arhgef10 UTSW 8 15,025,093 (GRCm39) critical splice donor site probably null
R2872:Arhgef10 UTSW 8 15,025,666 (GRCm39) missense probably benign 0.01
R2872:Arhgef10 UTSW 8 15,025,666 (GRCm39) missense probably benign 0.01
R2872:Arhgef10 UTSW 8 15,025,093 (GRCm39) critical splice donor site probably null
R2872:Arhgef10 UTSW 8 15,025,093 (GRCm39) critical splice donor site probably null
R2874:Arhgef10 UTSW 8 15,025,666 (GRCm39) missense probably benign 0.01
R2874:Arhgef10 UTSW 8 15,025,093 (GRCm39) critical splice donor site probably null
R3522:Arhgef10 UTSW 8 15,004,918 (GRCm39) missense probably damaging 1.00
R4049:Arhgef10 UTSW 8 15,029,998 (GRCm39) missense probably benign 0.05
R4324:Arhgef10 UTSW 8 14,990,335 (GRCm39) missense possibly damaging 0.77
R4351:Arhgef10 UTSW 8 15,041,145 (GRCm39) nonsense probably null
R4384:Arhgef10 UTSW 8 14,980,157 (GRCm39) nonsense probably null
R4385:Arhgef10 UTSW 8 14,980,157 (GRCm39) nonsense probably null
R4685:Arhgef10 UTSW 8 15,006,963 (GRCm39) missense probably damaging 1.00
R5111:Arhgef10 UTSW 8 14,982,408 (GRCm39) missense probably benign 0.00
R5169:Arhgef10 UTSW 8 14,980,051 (GRCm39) missense possibly damaging 0.80
R5670:Arhgef10 UTSW 8 15,004,774 (GRCm39) missense probably benign 0.01
R5945:Arhgef10 UTSW 8 15,030,028 (GRCm39) critical splice donor site probably null
R6593:Arhgef10 UTSW 8 15,012,522 (GRCm39) missense probably damaging 1.00
R6734:Arhgef10 UTSW 8 15,025,053 (GRCm39) missense probably damaging 1.00
R6859:Arhgef10 UTSW 8 15,025,005 (GRCm39) missense probably damaging 1.00
R6890:Arhgef10 UTSW 8 14,978,786 (GRCm39) missense probably benign 0.27
R7068:Arhgef10 UTSW 8 15,008,639 (GRCm39) missense probably damaging 1.00
R7081:Arhgef10 UTSW 8 15,047,547 (GRCm39) nonsense probably null
R7157:Arhgef10 UTSW 8 14,980,030 (GRCm39) missense probably damaging 1.00
R7232:Arhgef10 UTSW 8 14,990,323 (GRCm39) missense probably benign 0.10
R7514:Arhgef10 UTSW 8 15,025,956 (GRCm39) missense probably benign 0.16
R7544:Arhgef10 UTSW 8 15,029,854 (GRCm39) missense probably benign 0.34
R7657:Arhgef10 UTSW 8 15,029,893 (GRCm39) missense probably damaging 1.00
R7736:Arhgef10 UTSW 8 15,030,583 (GRCm39) nonsense probably null
R7777:Arhgef10 UTSW 8 14,995,373 (GRCm39) missense probably damaging 1.00
R8000:Arhgef10 UTSW 8 14,980,054 (GRCm39) missense probably damaging 1.00
R8060:Arhgef10 UTSW 8 15,004,446 (GRCm39) missense probably damaging 1.00
R8441:Arhgef10 UTSW 8 15,041,237 (GRCm39) splice site probably benign
R8545:Arhgef10 UTSW 8 15,025,931 (GRCm39) missense possibly damaging 0.83
R8545:Arhgef10 UTSW 8 14,978,868 (GRCm39) missense probably benign 0.00
R8702:Arhgef10 UTSW 8 14,992,638 (GRCm39) missense probably benign
R8846:Arhgef10 UTSW 8 15,025,956 (GRCm39) missense probably benign 0.16
R8854:Arhgef10 UTSW 8 15,029,798 (GRCm39) critical splice acceptor site probably null
R9076:Arhgef10 UTSW 8 15,024,993 (GRCm39) missense probably damaging 1.00
R9384:Arhgef10 UTSW 8 15,041,067 (GRCm39) missense probably damaging 0.99
R9479:Arhgef10 UTSW 8 15,047,632 (GRCm39) missense probably damaging 1.00
R9799:Arhgef10 UTSW 8 14,990,268 (GRCm39) missense probably damaging 0.99
X0024:Arhgef10 UTSW 8 15,028,486 (GRCm39) missense probably benign 0.01
X0027:Arhgef10 UTSW 8 15,047,631 (GRCm39) missense possibly damaging 0.92
Z1088:Arhgef10 UTSW 8 15,014,191 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTTTAAAGTCACTCAGCGAGCCC -3'
(R):5'- GTTCTGAGTTCAGGCGAGAG -3'

Sequencing Primer
(F):5'- CCCGGTGGCTTCTCTGTGAG -3'
(R):5'- AGAGCGTGGATGCGGCC -3'
Posted On 2018-06-22