Incidental Mutation 'R8854:Arhgef10'
ID 675182
Institutional Source Beutler Lab
Gene Symbol Arhgef10
Ensembl Gene ENSMUSG00000071176
Gene Name Rho guanine nucleotide exchange factor 10
Synonyms 6430549H08Rik
MMRRC Submission 068676-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8854 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 14961663-15051085 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 15029798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000163062]
AlphaFold Q8C033
Predicted Effect probably null
Transcript: ENSMUST00000084207
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176

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 null
Transcript: ENSMUST00000084207
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176

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
SMART Domains Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176

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: ENSMUST00000163062
SMART Domains Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 G A 19: 20,588,297 (GRCm39) W29* probably null Het
Ankib1 C A 5: 3,777,489 (GRCm39) W467L probably null Het
Arpc1b C A 5: 145,060,405 (GRCm39) R66S probably benign Het
Atoh1 A T 6: 64,706,189 (GRCm39) probably benign Het
Bach2 T A 4: 32,575,263 (GRCm39) D619E possibly damaging Het
Bbs9 T C 9: 22,490,060 (GRCm39) I277T probably damaging Het
Cadps2 G A 6: 23,385,507 (GRCm39) P772S probably damaging Het
Cd1d1 T A 3: 86,905,480 (GRCm39) D171V probably damaging Het
Cfap20dc A T 14: 8,518,638 (GRCm38) S273T probably damaging Het
Clca3a2 C T 3: 144,783,852 (GRCm39) A588T possibly damaging Het
Cps1 A G 1: 67,200,048 (GRCm39) K399E probably damaging Het
Cpt1a T C 19: 3,406,327 (GRCm39) S98P probably benign Het
Cryzl2 A G 1: 157,286,370 (GRCm39) K36R possibly damaging Het
Cxcl13 T C 5: 96,104,861 (GRCm39) L11P unknown Het
Dbf4 T A 5: 8,458,562 (GRCm39) D151V probably damaging Het
Eogt A T 6: 97,108,359 (GRCm39) C227* probably null Het
Fermt3 T A 19: 6,991,310 (GRCm39) D231V probably damaging Het
Il2rb T C 15: 78,369,953 (GRCm39) T229A probably benign Het
Ildr1 T A 16: 36,535,910 (GRCm39) Y142N probably damaging Het
Kcnv2 A T 19: 27,311,258 (GRCm39) T542S probably benign Het
Kif26b G A 1: 178,743,948 (GRCm39) G1348E possibly damaging Het
Lancl1 C T 1: 67,073,358 (GRCm39) E42K possibly damaging Het
Lrp1 T A 10: 127,378,968 (GRCm39) D4010V probably damaging Het
Mark2 A G 19: 7,258,369 (GRCm39) V640A probably benign Het
Megf6 C T 4: 154,352,469 (GRCm39) T1276M probably damaging Het
Meioc T C 11: 102,566,589 (GRCm39) M735T probably damaging Het
Mfsd4b5 C A 10: 39,846,735 (GRCm39) V282L probably damaging Het
Mlx T A 11: 100,981,951 (GRCm39) V286E Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Muc1 C T 3: 89,139,412 (GRCm39) P604L probably damaging Het
Net1 G T 13: 3,934,214 (GRCm39) D548E probably benign Het
Ngly1 T C 14: 16,281,769 (GRCm38) S342P probably damaging Het
Niban1 A G 1: 151,584,950 (GRCm39) K516E probably damaging Het
Nipbl A T 15: 8,330,210 (GRCm39) I2405N probably damaging Het
Nkx2-1 A T 12: 56,580,206 (GRCm39) C245S probably benign Het
Or52ab7 T C 7: 102,978,023 (GRCm39) I110T probably damaging Het
Or5p76 T A 7: 108,122,936 (GRCm39) I74L probably benign Het
Pcare T C 17: 72,056,326 (GRCm39) Y1117C probably benign Het
Pcdhgb5 C T 18: 37,865,501 (GRCm39) T432I probably benign Het
Plpp4 T A 7: 128,909,362 (GRCm39) L24* probably null Het
Pnma8a T C 7: 16,695,104 (GRCm39) S320P possibly damaging Het
Sass6 C A 3: 116,399,384 (GRCm39) Q93K possibly damaging Het
Sirpb1c T C 3: 15,887,308 (GRCm39) N177S possibly damaging Het
Slc22a30 A G 19: 8,363,754 (GRCm39) probably null Het
Snd1 A G 6: 28,526,968 (GRCm39) H217R probably benign Het
Spata31d1c C A 13: 65,183,804 (GRCm39) Q449K possibly damaging Het
Spidr A G 16: 15,707,630 (GRCm39) V889A probably damaging Het
Suclg2 A T 6: 95,572,650 (GRCm39) V105D probably damaging Het
Syne1 A T 10: 5,078,503 (GRCm39) M974K probably benign Het
Tbrg4 A T 11: 6,566,691 (GRCm39) D605E probably benign Het
Tcn2 A G 11: 3,876,074 (GRCm39) F118S possibly damaging Het
Tcstv2b T A 13: 120,377,825 (GRCm39) probably benign Het
Tfap4 T C 16: 4,367,238 (GRCm39) H208R probably benign Het
Trf A G 9: 103,107,529 (GRCm39) probably benign Het
Trpc4 A T 3: 54,102,122 (GRCm39) K7* probably null Het
Uap1 G T 1: 169,976,984 (GRCm39) P405Q probably damaging Het
Usp33 C A 3: 152,073,967 (GRCm39) T271N probably benign Het
Usp42 T C 5: 143,702,632 (GRCm39) D663G possibly damaging Het
Vmn2r10 T C 5: 109,144,126 (GRCm39) D608G probably benign Het
Wfdc16 G A 2: 164,480,486 (GRCm39) P3L probably benign Het
Zfp28 T C 7: 6,397,938 (GRCm39) I791T probably benign Het
Zfp970 A T 2: 177,165,088 (GRCm39) T5S probably damaging Het
Zfy1 A T Y: 726,501 (GRCm39) H421Q possibly 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 15,012,564 (GRCm39) missense possibly damaging 0.82
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
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'- ATGGGCTCTCTTGGAAATCC -3'
(R):5'- GCACTGAGGACAATCCCTAG -3'

Sequencing Primer
(F):5'- GGGCTCTCTTGGAAATCCTTTCAC -3'
(R):5'- ACAATCCCTAGAACAGTGTGTG -3'
Posted On 2021-07-15