Incidental Mutation 'R2124:Arhgef10'
ID 229665
Institutional Source Beutler Lab
Gene Symbol Arhgef10
Ensembl Gene ENSMUSG00000071176
Gene Name Rho guanine nucleotide exchange factor 10
Synonyms 6430549H08Rik
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2124 (G1)
Quality Score 197
Status Validated
Chromosome 8
Chromosomal Location 14961663-15051085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14984820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 200 (D200G)
Ref Sequence ENSEMBL: ENSMUSP00000106424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000161162]
AlphaFold Q8C033
Predicted Effect probably damaging
Transcript: ENSMUST00000084207
AA Change: D200G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: D200G

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 damaging
Transcript: ENSMUST00000110800
AA Change: D200G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: D200G

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 damaging
Transcript: ENSMUST00000161162
AA Change: D199G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: D199G

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
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A 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
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
Predicted Primers PCR Primer
(F):5'- AAACTTGAACTTGGGACTCTTGC -3'
(R):5'- ACCTCGATGCAAAGCAAGAG -3'

Sequencing Primer
(F):5'- AGTTGTGCCTGGGAAGACC -3'
(R):5'- GCAAGAGGCCACTTCAGAGTC -3'
Posted On 2014-09-17