Incidental Mutation 'R2870:Arhgef10'
ID 266517
Institutional Source Beutler Lab
Gene Symbol Arhgef10
Ensembl Gene ENSMUSG00000071176
Gene Name Rho guanine nucleotide exchange factor (GEF) 10
Synonyms 6430549H08Rik
MMRRC Submission 040458-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2870 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 14911663-15001085 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 14975093 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125526 (fasta)
Gene Model predicted gene model for transcript(s): [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: 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 null
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
Meta Mutation Damage Score 0.9484 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,067,379 (GRCm38) I234N probably benign Het
Actrt3 A G 3: 30,599,698 (GRCm38) V51A probably damaging Het
Adgb C T 10: 10,431,281 (GRCm38) probably null Het
AI481877 A C 4: 59,093,850 (GRCm38) L226R probably damaging Het
Als2 A G 1: 59,211,137 (GRCm38) S483P probably damaging Het
Ankrd10 C T 8: 11,615,682 (GRCm38) R306H probably damaging Het
Armc2 C T 10: 41,966,700 (GRCm38) probably null Het
Atp12a A G 14: 56,386,950 (GRCm38) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,550,021 (GRCm38) Y87C probably benign Het
C030034I22Rik T A 17: 69,418,111 (GRCm38) noncoding transcript Het
Cacna2d1 G A 5: 16,312,568 (GRCm38) C404Y probably damaging Het
Ccdc163 T C 4: 116,741,861 (GRCm38) silent Het
Ccdc59 A T 10: 105,841,527 (GRCm38) K9M possibly damaging Het
Cd6 A G 19: 10,794,626 (GRCm38) I307T possibly damaging Het
Clasrp C A 7: 19,585,240 (GRCm38) probably benign Het
Csmd2 T C 4: 128,557,718 (GRCm38) F113S unknown Het
Csmd3 C T 15: 47,857,924 (GRCm38) G1437D probably damaging Het
Cyp4a14 C A 4: 115,487,301 (GRCm38) G456W probably damaging Het
Cyp4a30b A G 4: 115,458,362 (GRCm38) H260R possibly damaging Het
Dcp1b C T 6: 119,214,774 (GRCm38) S217L probably benign Het
Dhx57 A T 17: 80,251,376 (GRCm38) D1051E probably benign Het
Dmp1 A G 5: 104,212,108 (GRCm38) S217G probably benign Het
Eif4enif1 C T 11: 3,242,586 (GRCm38) P805S probably damaging Het
Eral1 A G 11: 78,076,278 (GRCm38) I164T possibly damaging Het
Esr1 G A 10: 4,997,890 (GRCm38) R481H probably damaging Het
Fam19a2 A T 10: 123,704,365 (GRCm38) H42L possibly damaging Het
Fan1 A G 7: 64,363,190 (GRCm38) I668T probably benign Het
Gbp11 C T 5: 105,331,000 (GRCm38) D191N probably benign Het
Gm21759 T A 5: 8,180,863 (GRCm38) probably benign Het
Gm5454 C A 13: 103,357,523 (GRCm38) noncoding transcript Het
Gm9874 A T 17: 30,485,789 (GRCm38) probably benign Het
Gria2 G A 3: 80,702,492 (GRCm38) T670I probably damaging Het
Gria4 T A 9: 4,503,614 (GRCm38) N334I probably damaging Het
Grm5 T C 7: 87,602,722 (GRCm38) V60A possibly damaging Het
Ift172 C T 5: 31,257,861 (GRCm38) V1335I probably benign Het
Ino80d C T 1: 63,061,039 (GRCm38) probably null Het
Kif1c A G 11: 70,724,081 (GRCm38) E567G probably damaging Het
Krt31 T G 11: 100,047,873 (GRCm38) N298T possibly damaging Het
Mapk7 C A 11: 61,490,212 (GRCm38) probably benign Het
March8 C T 6: 116,401,145 (GRCm38) probably benign Het
Matr3 T A 18: 35,572,296 (GRCm38) S91R probably benign Het
Mdm1 A G 10: 118,150,942 (GRCm38) T267A probably benign Het
Mlxip A G 5: 123,452,667 (GRCm38) M878V probably benign Het
Mtm1 T C X: 71,296,362 (GRCm38) probably benign Homo
Mtor T A 4: 148,540,030 (GRCm38) M2089K probably benign Het
Mylk2 A G 2: 152,919,348 (GRCm38) K457R probably damaging Het
Nell1 A T 7: 50,249,657 (GRCm38) probably benign Het
Nomo1 C A 7: 46,046,937 (GRCm38) T293N probably damaging Het
Odf3l2 G A 10: 79,645,653 (GRCm38) T14I probably benign Het
Olfr1080 T C 2: 86,553,584 (GRCm38) D180G possibly damaging Het
Olfr1510 T G 14: 52,410,861 (GRCm38) T4P probably benign Het
Olfr801 A T 10: 129,669,759 (GRCm38) C253* probably null Het
Ostc T C 3: 130,703,508 (GRCm38) N80S probably damaging Het
Otud4 T A 8: 79,661,073 (GRCm38) N300K possibly damaging Het
Otx1 A G 11: 21,998,681 (GRCm38) probably benign Het
Palmd T C 3: 116,923,751 (GRCm38) R366G possibly damaging Het
Pcdhb20 A T 18: 37,505,780 (GRCm38) Q453L possibly damaging Het
Pcdhga9 T A 18: 37,737,471 (GRCm38) Y118N possibly damaging Het
Pes1 C A 11: 3,976,834 (GRCm38) T372K probably benign Het
Plcl1 A T 1: 55,697,150 (GRCm38) D550V probably benign Het
Plekhg5 T A 4: 152,107,503 (GRCm38) C433S probably benign Het
Plin2 A G 4: 86,668,678 (GRCm38) M1T probably null Het
Pold1 C T 7: 44,543,347 (GRCm38) silent Het
Ppp1r7 T A 1: 93,357,863 (GRCm38) probably null Het
Psmb8 T C 17: 34,200,170 (GRCm38) I146T probably damaging Het
Pzp A T 6: 128,485,556 (GRCm38) probably null Het
Rel T C 11: 23,761,129 (GRCm38) I13V probably benign Het
Reln C T 5: 22,049,791 (GRCm38) V527I possibly damaging Het
Retnla A G 16: 48,843,612 (GRCm38) R90G probably benign Het
Slc39a8 T A 3: 135,886,793 (GRCm38) probably null Het
Slc5a8 A G 10: 88,904,963 (GRCm38) I247V probably benign Het
Son A G 16: 91,664,317 (GRCm38) probably null Het
Spcs2 T C 7: 99,839,761 (GRCm38) D240G probably damaging Het
St5 A T 7: 109,557,430 (GRCm38) Y38N probably benign Het
Stx3 A T 19: 11,789,574 (GRCm38) V91D probably damaging Het
Taf6l A G 19: 8,778,628 (GRCm38) probably benign Het
Tbc1d8 A G 1: 39,405,317 (GRCm38) F187S probably damaging Het
Thbs1 C G 2: 118,119,378 (GRCm38) N611K probably damaging Het
Tipin A C 9: 64,304,327 (GRCm38) S232R probably benign Het
Tmem132b A G 5: 125,638,268 (GRCm38) D347G probably benign Het
Tmem161a C T 8: 70,178,915 (GRCm38) probably benign Het
Vmn2r68 A C 7: 85,233,626 (GRCm38) M306R probably benign Het
Vwa7 G A 17: 35,021,242 (GRCm38) M395I probably damaging Het
Ybx3 G A 6: 131,370,413 (GRCm38) A253V probably damaging Het
Zfp53 A T 17: 21,508,078 (GRCm38) E124D probably benign Het
Zzz3 T A 3: 152,446,844 (GRCm38) silent Het
Other mutations in Arhgef10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Arhgef10 APN 8 14,975,006 (GRCm38) missense probably damaging 1.00
IGL00823:Arhgef10 APN 8 14,940,378 (GRCm38) unclassified probably benign
IGL01012:Arhgef10 APN 8 14,979,977 (GRCm38) missense probably damaging 0.99
IGL01311:Arhgef10 APN 8 14,991,054 (GRCm38) splice site probably null
IGL01596:Arhgef10 APN 8 14,999,468 (GRCm38) nonsense probably null
IGL01888:Arhgef10 APN 8 14,962,577 (GRCm38) nonsense probably null
IGL01938:Arhgef10 APN 8 14,991,062 (GRCm38) missense probably benign 0.09
IGL02151:Arhgef10 APN 8 14,928,889 (GRCm38) missense possibly damaging 0.77
IGL02274:Arhgef10 APN 8 14,947,205 (GRCm38) missense probably damaging 0.99
IGL02369:Arhgef10 APN 8 14,997,551 (GRCm38) missense probably damaging 1.00
IGL02411:Arhgef10 APN 8 14,954,819 (GRCm38) missense probably benign 0.01
IGL02500:Arhgef10 APN 8 14,961,238 (GRCm38) missense probably damaging 1.00
IGL02597:Arhgef10 APN 8 14,930,198 (GRCm38) missense probably benign 0.27
IGL02602:Arhgef10 APN 8 14,930,198 (GRCm38) missense probably benign 0.27
IGL02743:Arhgef10 APN 8 14,930,198 (GRCm38) missense probably benign 0.27
IGL02744:Arhgef10 APN 8 14,930,198 (GRCm38) missense probably benign 0.27
IGL03113:Arhgef10 APN 8 14,954,505 (GRCm38) missense probably damaging 1.00
IGL03248:Arhgef10 APN 8 14,928,847 (GRCm38) missense probably benign 0.00
P0028:Arhgef10 UTSW 8 14,928,925 (GRCm38) missense possibly damaging 0.79
P4748:Arhgef10 UTSW 8 14,928,925 (GRCm38) missense possibly damaging 0.79
R0049:Arhgef10 UTSW 8 14,954,446 (GRCm38) missense probably damaging 1.00
R0197:Arhgef10 UTSW 8 14,962,636 (GRCm38) missense probably damaging 1.00
R0479:Arhgef10 UTSW 8 14,991,070 (GRCm38) missense probably damaging 0.98
R0701:Arhgef10 UTSW 8 14,962,636 (GRCm38) missense probably damaging 1.00
R0966:Arhgef10 UTSW 8 14,940,343 (GRCm38) missense probably benign 0.01
R1367:Arhgef10 UTSW 8 14,940,225 (GRCm38) missense probably damaging 1.00
R1572:Arhgef10 UTSW 8 14,991,211 (GRCm38) missense possibly damaging 0.53
R1631:Arhgef10 UTSW 8 14,947,157 (GRCm38) missense probably damaging 0.98
R1766:Arhgef10 UTSW 8 14,979,836 (GRCm38) missense probably damaging 1.00
R1920:Arhgef10 UTSW 8 14,956,987 (GRCm38) splice site probably benign
R2051:Arhgef10 UTSW 8 14,945,320 (GRCm38) missense probably null 1.00
R2088:Arhgef10 UTSW 8 14,983,898 (GRCm38) missense possibly damaging 0.46
R2118:Arhgef10 UTSW 8 14,934,820 (GRCm38) missense probably damaging 0.99
R2120:Arhgef10 UTSW 8 14,934,820 (GRCm38) missense probably damaging 0.99
R2121:Arhgef10 UTSW 8 14,934,820 (GRCm38) missense probably damaging 0.99
R2122:Arhgef10 UTSW 8 14,934,820 (GRCm38) missense probably damaging 0.99
R2124:Arhgef10 UTSW 8 14,934,820 (GRCm38) missense probably damaging 0.99
R2318:Arhgef10 UTSW 8 14,928,855 (GRCm38) missense probably damaging 1.00
R2870:Arhgef10 UTSW 8 14,975,666 (GRCm38) missense probably benign 0.01
R2870:Arhgef10 UTSW 8 14,975,666 (GRCm38) missense probably benign 0.01
R2870:Arhgef10 UTSW 8 14,975,093 (GRCm38) critical splice donor site probably null
R2872:Arhgef10 UTSW 8 14,975,666 (GRCm38) missense probably benign 0.01
R2872:Arhgef10 UTSW 8 14,975,666 (GRCm38) missense probably benign 0.01
R2872:Arhgef10 UTSW 8 14,975,093 (GRCm38) critical splice donor site probably null
R2872:Arhgef10 UTSW 8 14,975,093 (GRCm38) critical splice donor site probably null
R2874:Arhgef10 UTSW 8 14,975,666 (GRCm38) missense probably benign 0.01
R2874:Arhgef10 UTSW 8 14,975,093 (GRCm38) critical splice donor site probably null
R3522:Arhgef10 UTSW 8 14,954,918 (GRCm38) missense probably damaging 1.00
R4049:Arhgef10 UTSW 8 14,979,998 (GRCm38) missense probably benign 0.05
R4324:Arhgef10 UTSW 8 14,940,335 (GRCm38) missense possibly damaging 0.77
R4351:Arhgef10 UTSW 8 14,991,145 (GRCm38) nonsense probably null
R4384:Arhgef10 UTSW 8 14,930,157 (GRCm38) nonsense probably null
R4385:Arhgef10 UTSW 8 14,930,157 (GRCm38) nonsense probably null
R4685:Arhgef10 UTSW 8 14,956,963 (GRCm38) missense probably damaging 1.00
R5111:Arhgef10 UTSW 8 14,932,408 (GRCm38) missense probably benign 0.00
R5169:Arhgef10 UTSW 8 14,930,051 (GRCm38) missense possibly damaging 0.80
R5670:Arhgef10 UTSW 8 14,954,774 (GRCm38) missense probably benign 0.01
R5945:Arhgef10 UTSW 8 14,980,028 (GRCm38) critical splice donor site probably null
R6593:Arhgef10 UTSW 8 14,962,564 (GRCm38) missense possibly damaging 0.82
R6593:Arhgef10 UTSW 8 14,962,522 (GRCm38) missense probably damaging 1.00
R6734:Arhgef10 UTSW 8 14,975,053 (GRCm38) missense probably damaging 1.00
R6859:Arhgef10 UTSW 8 14,975,005 (GRCm38) missense probably damaging 1.00
R6890:Arhgef10 UTSW 8 14,928,786 (GRCm38) missense probably benign 0.27
R7068:Arhgef10 UTSW 8 14,958,639 (GRCm38) missense probably damaging 1.00
R7081:Arhgef10 UTSW 8 14,997,547 (GRCm38) nonsense probably null
R7157:Arhgef10 UTSW 8 14,930,030 (GRCm38) missense probably damaging 1.00
R7232:Arhgef10 UTSW 8 14,940,323 (GRCm38) missense probably benign 0.10
R7514:Arhgef10 UTSW 8 14,975,956 (GRCm38) missense probably benign 0.16
R7544:Arhgef10 UTSW 8 14,979,854 (GRCm38) missense probably benign 0.34
R7657:Arhgef10 UTSW 8 14,979,893 (GRCm38) missense probably damaging 1.00
R7736:Arhgef10 UTSW 8 14,980,583 (GRCm38) nonsense probably null
R7777:Arhgef10 UTSW 8 14,945,373 (GRCm38) missense probably damaging 1.00
R8000:Arhgef10 UTSW 8 14,930,054 (GRCm38) missense probably damaging 1.00
R8060:Arhgef10 UTSW 8 14,954,446 (GRCm38) missense probably damaging 1.00
R8441:Arhgef10 UTSW 8 14,991,237 (GRCm38) splice site probably benign
R8545:Arhgef10 UTSW 8 14,975,931 (GRCm38) missense possibly damaging 0.83
R8545:Arhgef10 UTSW 8 14,928,868 (GRCm38) missense probably benign 0.00
R8702:Arhgef10 UTSW 8 14,942,638 (GRCm38) missense probably benign
R8846:Arhgef10 UTSW 8 14,975,956 (GRCm38) missense probably benign 0.16
R8854:Arhgef10 UTSW 8 14,979,798 (GRCm38) critical splice acceptor site probably null
R9076:Arhgef10 UTSW 8 14,974,993 (GRCm38) missense probably damaging 1.00
R9384:Arhgef10 UTSW 8 14,991,067 (GRCm38) missense probably damaging 0.99
R9479:Arhgef10 UTSW 8 14,997,632 (GRCm38) missense probably damaging 1.00
R9799:Arhgef10 UTSW 8 14,940,268 (GRCm38) missense probably damaging 0.99
X0024:Arhgef10 UTSW 8 14,978,486 (GRCm38) missense probably benign 0.01
X0027:Arhgef10 UTSW 8 14,997,631 (GRCm38) missense possibly damaging 0.92
Z1088:Arhgef10 UTSW 8 14,964,191 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AATGTATTTCGGTGCCGCCC -3'
(R):5'- CTGGGGACTAATCACACAGAGAC -3'

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