Incidental Mutation 'R4707:Arhgef10l'
ID 355303
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 041955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4707 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140264194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 671 (M671I)
Ref Sequence ENSEMBL: ENSMUSP00000101423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799]
AlphaFold A2AWP8
Predicted Effect probably benign
Transcript: ENSMUST00000039204
AA Change: M958I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: M958I

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 318 500 1.95e-52 SMART
Blast:PH 535 748 3e-82 BLAST
low complexity region 821 833 N/A INTRINSIC
low complexity region 864 876 N/A INTRINSIC
Blast:WD40 1217 1270 8e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000069623
AA Change: M924I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: M924I

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 279 461 1.95e-52 SMART
Blast:PH 496 714 5e-80 BLAST
low complexity region 787 799 N/A INTRINSIC
low complexity region 830 842 N/A INTRINSIC
Blast:WD40 1183 1236 7e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000097820
AA Change: M919I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: M919I

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 279 461 1.95e-52 SMART
Blast:PH 496 709 3e-82 BLAST
low complexity region 782 794 N/A INTRINSIC
low complexity region 825 837 N/A INTRINSIC
Blast:WD40 1178 1231 6e-18 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000105797
AA Change: M671I

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: M671I

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
Pfam:RhoGEF 101 183 7.1e-15 PFAM
low complexity region 195 213 N/A INTRINSIC
Blast:PH 248 461 7e-83 BLAST
low complexity region 534 546 N/A INTRINSIC
low complexity region 577 589 N/A INTRINSIC
Blast:WD40 618 656 6e-15 BLAST
Blast:WD40 930 983 1e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000105798
AA Change: M723I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: M723I

DomainStartEndE-ValueType
RhoGEF 78 260 1.95e-52 SMART
Blast:PH 295 513 8e-81 BLAST
low complexity region 586 598 N/A INTRINSIC
low complexity region 629 641 N/A INTRINSIC
Blast:WD40 982 1035 6e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000105799
AA Change: M963I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: M963I

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 28 49 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
RhoGEF 318 500 1.95e-52 SMART
Blast:PH 535 753 5e-80 BLAST
low complexity region 826 838 N/A INTRINSIC
low complexity region 869 881 N/A INTRINSIC
Blast:WD40 1222 1275 8e-18 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000138493
AA Change: M503I
SMART Domains Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964
AA Change: M503I

DomainStartEndE-ValueType
Pfam:RhoGEF 1 46 3.1e-11 PFAM
Blast:PH 81 294 3e-86 BLAST
low complexity region 367 379 N/A INTRINSIC
Blast:WD40 387 446 8e-6 BLAST
Blast:WD40 451 489 3e-15 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A G 17: 9,224,544 (GRCm39) K450R probably damaging Het
Abcd2 T C 15: 91,043,385 (GRCm39) D601G probably benign Het
Abcf3 A G 16: 20,367,808 (GRCm39) K56E possibly damaging Het
Acaca T C 11: 84,203,680 (GRCm39) V1477A probably damaging Het
Adamts20 G A 15: 94,231,528 (GRCm39) P887L possibly damaging Het
Ahnak T G 19: 8,994,099 (GRCm39) S5128A probably benign Het
Ahsa2 C A 11: 23,443,162 (GRCm39) V197F probably benign Het
Ak9 C A 10: 41,221,456 (GRCm39) H402N probably benign Het
Alpk1 G T 3: 127,481,241 (GRCm39) N175K possibly damaging Het
Als2 A G 1: 59,254,472 (GRCm39) V295A probably benign Het
Ankrd16 A G 2: 11,783,608 (GRCm39) D70G probably damaging Het
Apob A T 12: 8,056,205 (GRCm39) K1562N probably damaging Het
Arfgap2 C A 2: 91,100,316 (GRCm39) S250R probably damaging Het
Atrnl1 A G 19: 57,617,590 (GRCm39) I122V probably damaging Het
B4galnt2 C T 11: 95,766,923 (GRCm39) probably null Het
C8a A G 4: 104,713,618 (GRCm39) Y171H probably damaging Het
Cacnb4 A G 2: 52,364,927 (GRCm39) V112A probably benign Het
Capn9 G T 8: 125,340,195 (GRCm39) C566F possibly damaging Het
Ccdc88a T A 11: 29,397,956 (GRCm39) S230T probably benign Het
Cd300c2 A T 11: 114,887,811 (GRCm39) F197Y probably benign Het
Chd5 A G 4: 152,445,039 (GRCm39) Y340C probably damaging Het
Chrd A T 16: 20,557,558 (GRCm39) I726F possibly damaging Het
Chrna10 G A 7: 101,762,426 (GRCm39) P255S possibly damaging Het
Clasp1 T A 1: 118,470,927 (GRCm39) Y197* probably null Het
Cyp2c69 C G 19: 39,837,852 (GRCm39) G410A probably benign Het
Cyp2e1 G A 7: 140,343,821 (GRCm39) V20I possibly damaging Het
Dapp1 T C 3: 137,638,928 (GRCm39) D225G probably benign Het
Dnah5 A T 15: 28,372,521 (GRCm39) D2924V probably damaging Het
Efcab12 A T 6: 115,791,510 (GRCm39) L554Q possibly damaging Het
Emsy T C 7: 98,246,311 (GRCm39) T228A possibly damaging Het
Evc2 G A 5: 37,579,204 (GRCm39) V1106I probably benign Het
Exoc8 G T 8: 125,624,209 (GRCm39) Q53K possibly damaging Het
Fbn2 A T 18: 58,189,344 (GRCm39) V1594D probably damaging Het
Fer1l4 T C 2: 155,887,543 (GRCm39) Y551C possibly damaging Het
Fhip1a G T 3: 85,595,877 (GRCm39) T115K probably damaging Het
Fmnl3 A G 15: 99,221,362 (GRCm39) M481T probably benign Het
Fras1 A G 5: 96,883,097 (GRCm39) N2543S probably damaging Het
Fsd2 T C 7: 81,209,428 (GRCm39) D138G probably damaging Het
Gda C T 19: 21,405,992 (GRCm39) V5I probably benign Het
Glt8d2 A T 10: 82,496,583 (GRCm39) D158E probably damaging Het
Gpx6 C T 13: 21,496,434 (GRCm39) Q3* probably null Het
Greb1l A G 18: 10,532,922 (GRCm39) M830V probably benign Het
Hnrnpul1 A C 7: 25,426,258 (GRCm39) V531G probably damaging Het
Ifi206 A T 1: 173,308,432 (GRCm39) H521Q probably benign Het
Igsf3 G C 3: 101,365,410 (GRCm39) R1127P probably benign Het
Il1rl1 A G 1: 40,489,348 (GRCm39) R367G probably damaging Het
Islr T C 9: 58,064,970 (GRCm39) D179G possibly damaging Het
Jcad G T 18: 4,649,338 (GRCm39) E70* probably null Het
Kcnd2 T C 6: 21,723,211 (GRCm39) I467T probably benign Het
Lrrc27 A G 7: 138,822,614 (GRCm39) T502A probably benign Het
Lrrtm3 T A 10: 63,923,781 (GRCm39) H462L probably benign Het
Mbd5 T C 2: 49,140,168 (GRCm39) L44S probably damaging Het
Mccc1 C A 3: 36,030,022 (GRCm39) M429I probably damaging Het
Mgam A T 6: 40,691,566 (GRCm39) probably null Het
Mipep T A 14: 61,109,552 (GRCm39) I643N probably damaging Het
Mmrn1 A T 6: 60,965,457 (GRCm39) I1162L probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mug1 G A 6: 121,861,600 (GRCm39) C1354Y probably damaging Het
Nbeal2 A T 9: 110,461,123 (GRCm39) S1647T probably benign Het
Ndufaf2 C G 13: 108,189,314 (GRCm39) A145P probably damaging Het
Nedd9 A T 13: 41,492,051 (GRCm39) probably null Het
Nr4a2 T A 2: 57,002,105 (GRCm39) H116L probably benign Het
Nwd2 A G 5: 63,951,665 (GRCm39) Y232C probably damaging Het
Odf4 A G 11: 68,817,514 (GRCm39) L58P probably damaging Het
Or2a20 T A 6: 43,193,883 (GRCm39) V12D probably benign Het
Or4a27 T A 2: 88,559,056 (GRCm39) M296L possibly damaging Het
Or4c116 A T 2: 88,942,576 (GRCm39) F93L probably damaging Het
Or4g17 T A 2: 111,209,990 (GRCm39) L215H probably damaging Het
Or7e165 C T 9: 19,694,596 (GRCm39) H18Y probably damaging Het
Or8g24 A G 9: 38,989,558 (GRCm39) V161A probably benign Het
Or8s5 G T 15: 98,238,659 (GRCm39) H70Q possibly damaging Het
Orc6 T A 8: 86,029,579 (GRCm39) I41K probably damaging Het
Pikfyve A G 1: 65,307,005 (GRCm39) T1798A probably benign Het
Prdx6b T C 2: 80,123,404 (GRCm39) L71P probably damaging Het
Prmt2 A G 10: 76,062,055 (GRCm39) I50T probably damaging Het
Ptdss1 T C 13: 67,143,482 (GRCm39) probably null Het
Pygl T C 12: 70,254,532 (GRCm39) T138A possibly damaging Het
Rab3c T C 13: 110,198,434 (GRCm39) E198G probably benign Het
Rbl2 A G 8: 91,812,196 (GRCm39) Y255C probably damaging Het
Rev3l T A 10: 39,699,393 (GRCm39) S1297T probably damaging Het
Rgma C A 7: 73,067,564 (GRCm39) T367K probably damaging Het
Rps6ka5 C T 12: 100,564,144 (GRCm39) probably null Het
Rslcan18 A T 13: 67,246,590 (GRCm39) C217S probably damaging Het
Rtp3 A G 9: 110,815,279 (GRCm39) probably benign Het
Ryr1 A T 7: 28,745,087 (GRCm39) N3848K probably damaging Het
Sema6a T A 18: 47,381,779 (GRCm39) T923S probably benign Het
Serpinb6d A T 13: 33,855,336 (GRCm39) T337S possibly damaging Het
Sf3b1 G A 1: 55,029,666 (GRCm39) T1112M probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sidt1 A T 16: 44,090,221 (GRCm39) Y369* probably null Het
Slc16a6 A G 11: 109,354,193 (GRCm39) S59P probably benign Het
Slc25a17 A C 15: 81,211,527 (GRCm39) L163W probably damaging Het
Slc44a3 T C 3: 121,320,723 (GRCm39) T93A possibly damaging Het
Sptbn1 T C 11: 30,087,197 (GRCm39) T1081A possibly damaging Het
Sptbn4 T C 7: 27,116,431 (GRCm39) D456G probably benign Het
Sycp1 C A 3: 102,760,805 (GRCm39) A703S possibly damaging Het
Tas2r118 T A 6: 23,969,225 (GRCm39) M279L probably benign Het
Tc2n T G 12: 101,660,832 (GRCm39) Q133H probably benign Het
Tctn1 A G 5: 122,399,468 (GRCm39) probably null Het
Tenm4 A C 7: 96,423,253 (GRCm39) K683Q probably damaging Het
Tex10 A T 4: 48,468,984 (GRCm39) S64T probably benign Het
Tex15 A G 8: 34,072,525 (GRCm39) T2691A probably benign Het
Tmem175 A T 5: 108,790,016 (GRCm39) T123S probably damaging Het
Tsc1 C A 2: 28,562,419 (GRCm39) S348R probably damaging Het
Ttll4 A T 1: 74,718,166 (GRCm39) T6S possibly damaging Het
Ttll8 A T 15: 88,801,293 (GRCm39) I465N probably damaging Het
Ubr3 A G 2: 69,768,714 (GRCm39) probably benign Het
Ugdh A T 5: 65,580,695 (GRCm39) probably null Het
Usp34 T C 11: 23,437,215 (GRCm39) L3326S probably damaging Het
Vmn2r125 A T 4: 156,702,276 (GRCm39) I21F probably damaging Het
Vps9d1 G A 8: 123,975,351 (GRCm39) probably benign Het
Xab2 G A 8: 3,668,117 (GRCm39) R154C possibly damaging Het
Zbtb12 T C 17: 35,114,475 (GRCm39) S87P probably damaging Het
Zc3h12a A G 4: 125,014,686 (GRCm39) M266T probably damaging Het
Zfp108 G A 7: 23,959,837 (GRCm39) A143T probably benign Het
Other mutations in Arhgef10l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Arhgef10l APN 4 140,297,649 (GRCm39) missense probably damaging 0.98
IGL01732:Arhgef10l APN 4 140,307,726 (GRCm39) missense probably damaging 0.99
IGL01988:Arhgef10l APN 4 140,305,672 (GRCm39) splice site probably benign
IGL02031:Arhgef10l APN 4 140,302,656 (GRCm39) missense probably damaging 1.00
IGL02253:Arhgef10l APN 4 140,271,595 (GRCm39) nonsense probably null
IGL02445:Arhgef10l APN 4 140,274,318 (GRCm39) missense probably benign 0.19
IGL02619:Arhgef10l APN 4 140,321,504 (GRCm39) missense probably benign 0.07
IGL02798:Arhgef10l APN 4 140,292,441 (GRCm39) critical splice donor site probably null
IGL03064:Arhgef10l APN 4 140,306,590 (GRCm39) missense probably damaging 1.00
IGL03178:Arhgef10l APN 4 140,271,739 (GRCm39) missense possibly damaging 0.92
IGL03236:Arhgef10l APN 4 140,338,671 (GRCm39) missense probably damaging 1.00
IGL03352:Arhgef10l APN 4 140,311,242 (GRCm39) start codon destroyed probably null 0.99
PIT4494001:Arhgef10l UTSW 4 140,292,522 (GRCm39) missense probably damaging 0.98
R0057:Arhgef10l UTSW 4 140,338,529 (GRCm39) splice site probably benign
R0062:Arhgef10l UTSW 4 140,279,843 (GRCm39) missense probably damaging 1.00
R0109:Arhgef10l UTSW 4 140,305,605 (GRCm39) missense probably benign 0.02
R0109:Arhgef10l UTSW 4 140,305,605 (GRCm39) missense probably benign 0.02
R0114:Arhgef10l UTSW 4 140,311,194 (GRCm39) missense probably benign 0.17
R0334:Arhgef10l UTSW 4 140,311,237 (GRCm39) nonsense probably null
R0742:Arhgef10l UTSW 4 140,264,156 (GRCm39) missense probably damaging 1.00
R1017:Arhgef10l UTSW 4 140,242,617 (GRCm39) missense probably damaging 0.99
R1166:Arhgef10l UTSW 4 140,302,581 (GRCm39) unclassified probably benign
R1397:Arhgef10l UTSW 4 140,271,754 (GRCm39) missense probably damaging 0.98
R1521:Arhgef10l UTSW 4 140,242,749 (GRCm39) missense possibly damaging 0.95
R1707:Arhgef10l UTSW 4 140,291,600 (GRCm39) missense probably damaging 1.00
R1793:Arhgef10l UTSW 4 140,242,684 (GRCm39) missense probably damaging 0.97
R2018:Arhgef10l UTSW 4 140,271,695 (GRCm39) missense probably damaging 1.00
R2093:Arhgef10l UTSW 4 140,297,601 (GRCm39) missense possibly damaging 0.57
R2098:Arhgef10l UTSW 4 140,306,743 (GRCm39) missense probably damaging 1.00
R2310:Arhgef10l UTSW 4 140,320,429 (GRCm39) missense probably damaging 1.00
R2879:Arhgef10l UTSW 4 140,242,598 (GRCm39) missense probably benign 0.09
R2883:Arhgef10l UTSW 4 140,244,113 (GRCm39) missense probably benign 0.02
R3732:Arhgef10l UTSW 4 140,308,930 (GRCm39) small deletion probably benign
R3732:Arhgef10l UTSW 4 140,308,930 (GRCm39) small deletion probably benign
R3861:Arhgef10l UTSW 4 140,242,798 (GRCm39) missense possibly damaging 0.94
R4049:Arhgef10l UTSW 4 140,242,762 (GRCm39) missense probably benign 0.05
R4322:Arhgef10l UTSW 4 140,270,037 (GRCm39) missense probably benign 0.07
R5395:Arhgef10l UTSW 4 140,297,601 (GRCm39) missense probably benign 0.16
R5720:Arhgef10l UTSW 4 140,308,930 (GRCm39) small deletion probably benign
R6066:Arhgef10l UTSW 4 140,304,391 (GRCm39) missense probably damaging 1.00
R6190:Arhgef10l UTSW 4 140,270,073 (GRCm39) missense possibly damaging 0.90
R6464:Arhgef10l UTSW 4 140,314,126 (GRCm39) missense probably benign 0.05
R6476:Arhgef10l UTSW 4 140,338,693 (GRCm39) missense probably damaging 1.00
R6478:Arhgef10l UTSW 4 140,270,068 (GRCm39) missense possibly damaging 0.91
R6483:Arhgef10l UTSW 4 140,344,226 (GRCm39) missense probably damaging 0.99
R6631:Arhgef10l UTSW 4 140,245,058 (GRCm39) intron probably benign
R6721:Arhgef10l UTSW 4 140,297,655 (GRCm39) missense probably damaging 1.00
R6890:Arhgef10l UTSW 4 140,271,730 (GRCm39) missense probably damaging 1.00
R7098:Arhgef10l UTSW 4 140,308,222 (GRCm39) missense probably benign 0.01
R7100:Arhgef10l UTSW 4 140,244,126 (GRCm39) missense possibly damaging 0.60
R7117:Arhgef10l UTSW 4 140,291,497 (GRCm39) critical splice donor site probably null
R7195:Arhgef10l UTSW 4 140,338,721 (GRCm39) missense probably benign
R7222:Arhgef10l UTSW 4 140,248,580 (GRCm39) missense probably damaging 1.00
R7397:Arhgef10l UTSW 4 140,290,115 (GRCm39) missense probably damaging 1.00
R7776:Arhgef10l UTSW 4 140,302,642 (GRCm39) missense probably damaging 1.00
R7801:Arhgef10l UTSW 4 140,271,578 (GRCm39) missense probably benign 0.00
R7811:Arhgef10l UTSW 4 140,242,335 (GRCm39) missense possibly damaging 0.63
R7832:Arhgef10l UTSW 4 140,305,616 (GRCm39) missense possibly damaging 0.90
R7849:Arhgef10l UTSW 4 140,311,245 (GRCm39) critical splice acceptor site probably null
R7963:Arhgef10l UTSW 4 140,306,736 (GRCm39) missense probably damaging 1.00
R8434:Arhgef10l UTSW 4 140,291,582 (GRCm39) missense possibly damaging 0.89
R8943:Arhgef10l UTSW 4 140,292,550 (GRCm39) missense probably damaging 0.99
R9004:Arhgef10l UTSW 4 140,279,921 (GRCm39) missense probably damaging 0.98
R9006:Arhgef10l UTSW 4 140,271,659 (GRCm39) missense probably benign 0.04
R9033:Arhgef10l UTSW 4 140,321,463 (GRCm39) missense probably damaging 0.99
R9302:Arhgef10l UTSW 4 140,242,548 (GRCm39) missense probably benign 0.04
R9337:Arhgef10l UTSW 4 140,338,624 (GRCm39) missense probably damaging 1.00
R9375:Arhgef10l UTSW 4 140,319,265 (GRCm39) missense probably benign
R9454:Arhgef10l UTSW 4 140,308,236 (GRCm39) nonsense probably null
Z1088:Arhgef10l UTSW 4 140,309,046 (GRCm39) missense possibly damaging 0.53
Z1177:Arhgef10l UTSW 4 140,244,083 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- CTCAACACCTCTGTTTAAAGGGC -3'
(R):5'- CCTGTTCTCAGCACCAAGTG -3'

Sequencing Primer
(F):5'- TCTGTTTAAAGGGCAGAGGTCAC -3'
(R):5'- TGTTCTCAGCACCAAGTGGGAAG -3'
Posted On 2015-10-21