Incidental Mutation 'IGL02744:Arhgef10'
ID 306002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef10
Ensembl Gene ENSMUSG00000071176
Gene Name Rho guanine nucleotide exchange factor 10
Synonyms 6430549H08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02744
Quality Score
Status
Chromosome 8
Chromosomal Location 14961663-15051085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14980198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 146 (A146V)
Ref Sequence ENSEMBL: ENSMUSP00000125606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000161162]
AlphaFold Q8C033
Predicted Effect probably benign
Transcript: ENSMUST00000084207
AA Change: A146V

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: A146V

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: A146V

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: A146V

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 noncoding transcript
Transcript: ENSMUST00000160619
Predicted Effect probably benign
Transcript: ENSMUST00000161162
AA Change: A146V

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: A146V

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
Coding Region Coverage
Validation Efficiency
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
4930564D02Rik A G 3: 104,985,852 (GRCm39) M89V unknown Het
Actl11 C A 9: 107,807,061 (GRCm39) H461Q probably benign Het
Aoc1l1 A G 6: 48,952,249 (GRCm39) E58G probably benign Het
Aox4 A T 1: 58,294,711 (GRCm39) R973S possibly damaging Het
Cep350 A T 1: 155,807,279 (GRCm39) S713T probably damaging Het
Epha5 T C 5: 84,255,848 (GRCm39) I458V probably benign Het
Galnt17 A G 5: 131,140,613 (GRCm39) I168T probably damaging Het
Gli3 T C 13: 15,788,471 (GRCm39) probably null Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Gm8206 T C 14: 6,022,488 (GRCm38) I4V possibly damaging Het
Golga1 A G 2: 38,908,486 (GRCm39) S713P probably damaging Het
Ing5 T C 1: 93,744,210 (GRCm39) M172T probably damaging Het
Lyn A G 4: 3,738,808 (GRCm39) T27A probably benign Het
Or2b28 A G 13: 21,531,164 (GRCm39) Y22C probably damaging Het
Pou5f1 T C 17: 35,820,311 (GRCm39) V40A probably damaging Het
Pramel13 A T 4: 144,119,493 (GRCm39) L358Q probably damaging Het
Prdm16 A G 4: 154,429,910 (GRCm39) L353P probably damaging Het
Psg18 T A 7: 18,083,327 (GRCm39) Q276L probably benign Het
Ralgapb A C 2: 158,288,071 (GRCm39) Q369H probably damaging Het
Slc44a4 A G 17: 35,146,776 (GRCm39) N300D probably damaging Het
Slc6a15 A T 10: 103,253,894 (GRCm39) E610V probably benign Het
Slc8a2 T C 7: 15,878,954 (GRCm39) V480A possibly damaging Het
Speer1j C T 5: 11,555,340 (GRCm39) T103I possibly damaging Het
Spg7 T C 8: 123,820,400 (GRCm39) F617S probably damaging Het
Srcap A G 7: 127,133,838 (GRCm39) D863G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suox T C 10: 128,507,086 (GRCm39) E314G probably benign Het
Tln2 T A 9: 67,136,658 (GRCm39) K1276* probably null Het
Tmem72 A G 6: 116,672,451 (GRCm39) L130P probably damaging Het
Ttll1 T C 15: 83,373,778 (GRCm39) Y345C probably benign Het
Ush2a A T 1: 188,090,914 (GRCm39) probably null Het
Xpo6 G A 7: 125,707,620 (GRCm39) probably benign Het
Zc3h14 A T 12: 98,751,234 (GRCm39) Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 (GRCm39) M66K 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
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
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
Posted On 2015-04-16