Incidental Mutation 'R3522:Arhgef10'
ID 267548
Institutional Source Beutler Lab
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 # R3522 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 14961663-15051085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15004918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 150 (F150S)
Ref Sequence ENSEMBL: ENSMUSP00000125526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084207] [ENSMUST00000110800] [ENSMUST00000161162] [ENSMUST00000163062]
AlphaFold Q8C033
Predicted Effect probably damaging
Transcript: ENSMUST00000084207
AA Change: F478S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081225
Gene: ENSMUSG00000071176
AA Change: F478S

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: F439S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106424
Gene: ENSMUSG00000071176
AA Change: F439S

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: F477S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125606
Gene: ENSMUSG00000071176
AA Change: F477S

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 damaging
Transcript: ENSMUST00000163062
AA Change: F150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125526
Gene: ENSMUSG00000071176
AA Change: F150S

DomainStartEndE-ValueType
RhoGEF 73 255 9.79e-58 SMART
Blast:PH 289 501 2e-47 BLAST
low complexity region 899 915 N/A INTRINSIC
Meta Mutation Damage Score 0.9340 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,592,378 (GRCm39) E888G probably damaging Het
Atp10d G T 5: 72,396,500 (GRCm39) R235L probably benign Het
Cacna1b A G 2: 24,653,055 (GRCm39) V2A possibly damaging Het
Cand1 A T 10: 119,075,102 (GRCm39) L15Q probably benign Het
Cavin3 C A 7: 105,130,350 (GRCm39) G154V probably benign Het
Ccdc73 A T 2: 104,821,830 (GRCm39) D593V probably damaging Het
Cdk5rap2 T C 4: 70,168,647 (GRCm39) K161E probably damaging Het
Chil4 A T 3: 106,111,056 (GRCm39) N279K probably benign Het
Chst13 T G 6: 90,295,245 (GRCm39) D56A probably damaging Het
Cnn1 C A 9: 22,010,664 (GRCm39) H5N probably benign Het
Cpsf4l T A 11: 113,593,319 (GRCm39) K88N probably damaging Het
Ctnnbl1 G T 2: 157,713,113 (GRCm39) probably null Het
Dnah7a A C 1: 53,657,275 (GRCm39) F834V probably damaging Het
Fbxo41 A G 6: 85,461,163 (GRCm39) S182P probably benign Het
Fkbp5 T C 17: 28,634,970 (GRCm39) T180A probably benign Het
Flg2 T A 3: 93,127,334 (GRCm39) I2082N unknown Het
Gm4968 A G 6: 127,210,725 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 116,761,747 (GRCm39) H612Q probably benign Het
Gsg1 A T 6: 135,218,251 (GRCm39) V212D probably damaging Het
Hipk1 A G 3: 103,651,430 (GRCm39) V1111A probably damaging Het
Hormad1 A T 3: 95,483,596 (GRCm39) Q136L probably benign Het
Ifi35 T A 11: 101,348,511 (GRCm39) S147R probably benign Het
Iqca1l A G 5: 24,754,624 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,089 (GRCm39) A282V probably null Het
Jmy T C 13: 93,590,558 (GRCm39) D515G probably damaging Het
Kctd10 G A 5: 114,512,984 (GRCm39) R64C probably damaging Het
Kidins220 T C 12: 25,040,757 (GRCm39) V121A probably damaging Het
Lcn3 G A 2: 25,656,133 (GRCm39) V63M possibly damaging Het
Lmx1b T A 2: 33,529,543 (GRCm39) Y72F probably benign Het
Lrp1 T C 10: 127,389,424 (GRCm39) D3164G probably damaging Het
Mdh1b C T 1: 63,758,927 (GRCm39) V222M probably damaging Het
Mst1 T C 9: 107,958,702 (GRCm39) probably benign Het
Myo7b C A 18: 32,143,132 (GRCm39) V189F probably damaging Het
Ndc1 T C 4: 107,250,355 (GRCm39) S533P probably damaging Het
Ndrg3 T C 2: 156,785,947 (GRCm39) D164G probably damaging Het
Nol11 C T 11: 107,064,454 (GRCm39) C500Y possibly damaging Het
Nsd3 A G 8: 26,196,642 (GRCm39) N1208D probably benign Het
Nup155 C T 15: 8,186,162 (GRCm39) probably benign Het
Or5ak20 A T 2: 85,183,347 (GRCm39) C308S probably benign Het
Or6c38 A G 10: 128,929,711 (GRCm39) I44T possibly damaging Het
Or8b47 A G 9: 38,435,081 (GRCm39) T18A probably damaging Het
Or8b54 A T 9: 38,687,016 (GRCm39) D155V possibly damaging Het
Phf3 A G 1: 30,844,684 (GRCm39) L1425P probably damaging Het
Pla2r1 A G 2: 60,279,250 (GRCm39) Y777H probably damaging Het
Pld1 A G 3: 28,085,396 (GRCm39) E184G probably damaging Het
Plxna1 T C 6: 89,314,335 (GRCm39) probably null Het
Ptgfrn T C 3: 100,950,718 (GRCm39) E865G probably damaging Het
Ptpn13 G T 5: 103,737,720 (GRCm39) probably benign Het
Pygb G T 2: 150,670,473 (GRCm39) V763F probably benign Het
Ros1 A C 10: 51,967,091 (GRCm39) Y1705* probably null Het
Sec61a2 A G 2: 5,898,027 (GRCm39) F5L probably benign Het
Skint5 A G 4: 113,614,102 (GRCm39) probably null Het
Sntg2 A G 12: 30,362,566 (GRCm39) V60A probably damaging Het
Sppl2a A G 2: 126,762,242 (GRCm39) C280R possibly damaging Het
Srrm4 A C 5: 116,584,603 (GRCm39) M1R probably null Het
Sult1c2 T C 17: 54,279,043 (GRCm39) E91G probably damaging Het
Themis2 C G 4: 132,512,906 (GRCm39) R440P probably damaging Het
Tmem229a A G 6: 24,955,058 (GRCm39) L232P probably benign Het
Trappc1 T C 11: 69,215,248 (GRCm39) F43L probably damaging Het
Trappc11 A T 8: 47,951,708 (GRCm39) Y982N possibly damaging Het
Trpv6 A T 6: 41,604,339 (GRCm39) M139K probably damaging Het
Txnrd3 A G 6: 89,640,057 (GRCm39) probably null Het
Vmn1r184 T A 7: 25,967,008 (GRCm39) Y251* probably null Het
Vmn1r216 A G 13: 23,283,544 (GRCm39) N76D possibly damaging Het
Vmn1r71 C A 7: 10,481,792 (GRCm39) V233F probably benign Het
Vps13a A C 19: 16,743,857 (GRCm39) probably benign Het
Vwa5b2 A G 16: 20,420,358 (GRCm39) S756G probably damaging Het
Wdr36 T A 18: 32,994,538 (GRCm39) probably null Het
Wdr86 A G 5: 24,923,305 (GRCm39) V129A probably benign Het
Zfyve9 A G 4: 108,576,940 (GRCm39) L47S 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
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'- TGACACTTGTTTCTGGCGCAG -3'
(R):5'- CTTCCTTGTCCCCTGAGAAAG -3'

Sequencing Primer
(F):5'- GCAATATGAGAAGCCGCTGTCTG -3'
(R):5'- GACCCCTGCTCCTTTCCTGAAG -3'
Posted On 2015-02-18