Incidental Mutation 'R7232:Arhgef10'
ID 562561
Institutional Source Beutler Lab
Gene Symbol Arhgef10
Ensembl Gene ENSMUSG00000071176
Gene Name Rho guanine nucleotide exchange factor 10
Synonyms 6430549H08Rik
MMRRC Submission 045303-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7232 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 14961663-15051085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14990323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 266 (G266D)
Ref Sequence ENSEMBL: ENSMUSP00000081225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000161162] [ENSMUST00000163062]
AlphaFold Q8C033
Predicted Effect probably benign
Transcript: ENSMUST00000084207
AA Change: G266D

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: G266D

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: G266D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: G266D

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
AA Change: G265D

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: G265D

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 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: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik G A 7: 40,642,603 (GRCm39) G91S probably damaging Het
Adam21 T G 12: 81,607,330 (GRCm39) N144T probably damaging Het
Adgrg7 T C 16: 56,597,515 (GRCm39) probably null Het
Angpt4 T C 2: 151,771,460 (GRCm39) S259P possibly damaging Het
Aqr A C 2: 113,936,363 (GRCm39) L1320R probably damaging Het
Bop1 A G 15: 76,337,546 (GRCm39) V693A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdc5l A G 17: 45,738,863 (GRCm39) probably null Het
Cfap46 C A 7: 139,197,493 (GRCm39) R2126L unknown Het
Chek2 T C 5: 111,008,781 (GRCm39) V304A probably damaging Het
Cntnap4 T A 8: 113,391,731 (GRCm39) probably null Het
Ctps1 C A 4: 120,405,321 (GRCm39) G374C probably damaging Het
Defa27 A T 8: 21,805,625 (GRCm39) I22F probably damaging Het
Dnah14 T C 1: 181,584,928 (GRCm39) S3220P probably damaging Het
Dop1b T G 16: 93,557,373 (GRCm39) probably null Het
Dpysl5 G A 5: 30,949,642 (GRCm39) V471I probably benign Het
Duoxa1 T A 2: 122,135,728 (GRCm39) I124F probably damaging Het
Eif4enif1 A G 11: 3,165,678 (GRCm39) E85G possibly damaging Het
Eogt T A 6: 97,096,944 (GRCm39) I355F probably damaging Het
Epha7 T A 4: 28,951,279 (GRCm39) V800E probably damaging Het
Evi5l A G 8: 4,255,906 (GRCm39) Q633R possibly damaging Het
Fam170a T C 18: 50,414,728 (GRCm39) Y125H probably damaging Het
Fbxo15 T C 18: 84,980,747 (GRCm39) Y241H probably damaging Het
Gbe1 T C 16: 70,233,828 (GRCm39) I235T possibly damaging Het
Gfra3 C T 18: 34,844,234 (GRCm39) R102Q probably damaging Het
Gjd4 C T 18: 9,280,380 (GRCm39) G233S probably damaging Het
Gm29106 C T 1: 118,127,291 (GRCm39) P328S probably damaging Het
Hgfac G T 5: 35,204,258 (GRCm39) R507L probably damaging Het
Jakmip3 A G 7: 138,609,355 (GRCm39) K153R probably benign Het
Kcnc1 T A 7: 46,077,383 (GRCm39) V395E probably damaging Het
Krt6b T C 15: 101,586,577 (GRCm39) D304G probably damaging Het
Ldha T C 7: 46,500,323 (GRCm39) Y174H probably benign Het
Lgi4 G A 7: 30,766,776 (GRCm39) V268M possibly damaging Het
Lpar3 T G 3: 145,947,061 (GRCm39) probably null Het
Lrp3 T C 7: 34,905,477 (GRCm39) D103G probably damaging Het
Marchf5 G A 19: 37,194,713 (GRCm39) probably null Het
Muc5b A T 7: 141,419,866 (GRCm39) H4115L possibly damaging Het
Myh13 G A 11: 67,239,672 (GRCm39) D741N probably damaging Het
Naglu A T 11: 100,967,252 (GRCm39) I401F probably damaging Het
Ncam2 T A 16: 81,309,759 (GRCm39) N416K probably damaging Het
Ncan A G 8: 70,564,738 (GRCm39) L292S probably damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l A T 19: 5,553,659 (GRCm39) S41T possibly damaging Het
Onecut2 T A 18: 64,474,633 (GRCm39) W395R probably damaging Het
Or10a2 T A 7: 106,673,062 (GRCm39) I9K probably benign Het
Pak6 T A 2: 118,524,003 (GRCm39) V386E probably damaging Het
Pias2 A G 18: 77,220,931 (GRCm39) S396G probably benign Het
Plxna2 T A 1: 194,394,568 (GRCm39) L483H probably damaging Het
Prss36 G T 7: 127,534,763 (GRCm39) R484S probably benign Het
Ptpn21 A T 12: 98,654,996 (GRCm39) V657E probably benign Het
Rassf2 T C 2: 131,838,332 (GRCm39) E318G probably damaging Het
Rp1 A C 1: 4,298,824 (GRCm39) S623A unknown Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn11a T A 9: 119,588,982 (GRCm39) E1308V probably damaging Het
Serpina3c A T 12: 104,115,771 (GRCm39) S258T possibly damaging Het
Slit3 A G 11: 35,501,516 (GRCm39) T417A possibly damaging Het
Sostdc1 C A 12: 36,367,310 (GRCm39) A162E possibly damaging Het
Sox13 A T 1: 133,312,129 (GRCm39) probably null Het
Sox8 G T 17: 25,786,514 (GRCm39) S396R probably benign Het
Sult2a3 A T 7: 13,816,685 (GRCm39) F164L possibly damaging Het
Susd2 T C 10: 75,475,685 (GRCm39) Y438C probably damaging Het
Tas2r106 T G 6: 131,655,810 (GRCm39) T14P probably damaging Het
Tcf25 T A 8: 124,127,800 (GRCm39) probably null Het
Tenm3 G A 8: 48,688,970 (GRCm39) R2206W probably damaging Het
Tep1 A G 14: 51,081,789 (GRCm39) L471P unknown Het
Ticrr A T 7: 79,343,490 (GRCm39) K1118N probably damaging Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
U2surp A G 9: 95,375,770 (GRCm39) V141A probably benign Het
Unc79 T A 12: 103,100,734 (GRCm39) S2050T possibly damaging Het
Usp13 A G 3: 32,920,020 (GRCm39) D235G probably benign Het
Vcam1 T C 3: 115,919,628 (GRCm39) T213A possibly damaging Het
Vmn2r60 T A 7: 41,786,166 (GRCm39) I323N possibly damaging Het
Vps13b A G 15: 35,877,703 (GRCm39) I2892M probably damaging Het
Wnt5a T A 14: 28,240,329 (GRCm39) S160T probably benign Het
Zar1 G A 5: 72,738,294 (GRCm39) P36L possibly damaging Het
Zfp773 A T 7: 7,135,984 (GRCm39) M204K probably benign Het
Zhx1 T C 15: 57,916,465 (GRCm39) T594A probably benign 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
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'- CAGCCTCTGTCTGGTAACTCAG -3'
(R):5'- TTACACATAGGAGACCACTTCGC -3'

Sequencing Primer
(F):5'- TGGTAACTCAGCAGGCTCATG -3'
(R):5'- ATAGGAGACCACTTCGCTGGTAC -3'
Posted On 2019-06-26