Incidental Mutation 'R8434:Arhgef10l'
ID 653890
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 067900-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8434 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140291582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 454 (Q454L)
Ref Sequence ENSEMBL: ENSMUSP00000101424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000140403]
AlphaFold A2AWP8
Predicted Effect possibly damaging
Transcript: ENSMUST00000039204
AA Change: Q689L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: Q689L

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 damaging
Transcript: ENSMUST00000069623
AA Change: Q655L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: Q655L

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 possibly damaging
Transcript: ENSMUST00000097820
AA Change: Q650L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: Q650L

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 probably damaging
Transcript: ENSMUST00000105797
AA Change: Q402L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: Q402L

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 possibly damaging
Transcript: ENSMUST00000105798
AA Change: Q454L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: Q454L

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 possibly damaging
Transcript: ENSMUST00000105799
AA Change: Q694L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: Q694L

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 probably damaging
Transcript: ENSMUST00000138493
AA Change: Q234L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964
AA Change: Q234L

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
Predicted Effect probably damaging
Transcript: ENSMUST00000140403
AA Change: Q68L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117038
Gene: ENSMUSG00000040964
AA Change: Q68L

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Blast:PH 16 127 3e-57 BLAST
Meta Mutation Damage Score 0.2138 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,021 (GRCm39) T737A probably damaging Het
2310034C09Rik A G 16: 88,556,260 (GRCm39) Y158C probably damaging Het
Abhd18 T A 3: 40,885,331 (GRCm39) S239T possibly damaging Het
Ankrd13b G A 11: 77,368,552 (GRCm39) T56I probably benign Het
Atp1a2 T C 1: 172,112,179 (GRCm39) E572G probably benign Het
Cdk5rap2 T C 4: 70,282,257 (GRCm39) H164R probably benign Het
Clca4b A G 3: 144,631,917 (GRCm39) M196T probably benign Het
Cnbd1 T G 4: 19,055,045 (GRCm39) K127T probably benign Het
Cog3 A T 14: 75,979,836 (GRCm39) V165E probably damaging Het
Crim1 G A 17: 78,654,686 (GRCm39) R654H probably benign Het
Ctnnb1 G A 9: 120,786,628 (GRCm39) V617I possibly damaging Het
Dach1 T A 14: 98,406,129 (GRCm39) Q206L probably damaging Het
Dhx30 C T 9: 109,929,974 (GRCm39) V41I probably benign Het
Dnase2a T C 8: 85,636,410 (GRCm39) L176P probably damaging Het
Dpp10 T C 1: 123,360,739 (GRCm39) D262G probably damaging Het
Dsel T A 1: 111,789,385 (GRCm39) E383D probably damaging Het
Flt1 T A 5: 147,576,253 (GRCm39) Y585F probably damaging Het
Fubp1 T A 3: 151,926,190 (GRCm39) I304N probably damaging Het
Gab2 A G 7: 96,948,337 (GRCm39) D309G probably damaging Het
Gon4l T C 3: 88,762,086 (GRCm39) V291A probably damaging Het
Gpam C T 19: 55,070,063 (GRCm39) V398M possibly damaging Het
Grin3b C T 10: 79,810,422 (GRCm39) R643C probably damaging Het
Hdac3 T A 18: 38,074,475 (GRCm39) H339L possibly damaging Het
Hsdl2 A T 4: 59,610,621 (GRCm39) Q326L unknown Het
Insr T C 8: 3,215,514 (GRCm39) probably benign Het
Ivl T A 3: 92,479,943 (GRCm39) T41S probably benign Het
Lama4 C T 10: 38,902,703 (GRCm39) P226S possibly damaging Het
Lpin1 A G 12: 16,613,621 (GRCm39) probably null Het
Lrrc42 A T 4: 107,104,721 (GRCm39) N81K probably damaging Het
Mast4 A T 13: 102,897,900 (GRCm39) H838Q probably damaging Het
Mcmdc2 A G 1: 9,990,806 (GRCm39) M314V possibly damaging Het
Me3 A G 7: 89,389,086 (GRCm39) E130G probably damaging Het
Mpnd A G 17: 56,316,405 (GRCm39) D28G possibly damaging Het
Mtch2 G T 2: 90,683,208 (GRCm39) E102* probably null Het
Myh13 A T 11: 67,254,011 (GRCm39) probably null Het
Or10ag55-ps1 G A 2: 87,114,978 (GRCm39) V115I probably benign Het
Or5ae2 C A 7: 84,506,497 (GRCm39) H309N probably benign Het
Plch2 T A 4: 155,074,192 (GRCm39) D891V probably damaging Het
Ppfibp2 T C 7: 107,327,957 (GRCm39) probably null Het
Rag1 A G 2: 101,473,009 (GRCm39) L711P probably damaging Het
Sacs T A 14: 61,450,636 (GRCm39) Y4227* probably null Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sema3a T C 5: 13,523,487 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,563 (GRCm39) G219R probably damaging Het
Sp1 C T 15: 102,318,118 (GRCm39) L546F probably benign Het
Syne1 T C 10: 5,073,057 (GRCm39) N1256S probably benign Het
Tbc1d5 G T 17: 51,089,455 (GRCm39) probably benign Het
Tns1 T C 1: 73,964,765 (GRCm39) S33G probably benign Het
Tpsab1 A G 17: 25,564,445 (GRCm39) L3P possibly damaging Het
Trgv3 A G 13: 19,427,036 (GRCm39) T8A probably benign Het
Vav2 A T 2: 27,159,050 (GRCm39) probably benign Het
Vmn1r44 T C 6: 89,870,610 (GRCm39) S119P possibly damaging Het
Vmn2r31 A G 7: 7,387,699 (GRCm39) L624P probably damaging Het
Vps33a A T 5: 123,671,944 (GRCm39) W475R possibly damaging Het
Xpnpep3 G T 15: 81,311,795 (GRCm39) R167L possibly damaging Het
Zfhx4 T A 3: 5,463,918 (GRCm39) S1384T probably damaging Het
Zfp3 G A 11: 70,663,384 (GRCm39) E448K probably benign Het
Zfp362 T A 4: 128,679,769 (GRCm39) H299L probably damaging Het
Zfp664 C T 5: 124,962,827 (GRCm39) L74F possibly damaging Het
Zfp808 A G 13: 62,319,926 (GRCm39) Y385C probably damaging 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
R4707:Arhgef10l UTSW 4 140,264,194 (GRCm39) missense possibly damaging 0.63
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
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'- ATCACAGCAGTTGCAGCAAG -3'
(R):5'- TCATCTAGGCTTGGGAGGTC -3'

Sequencing Primer
(F):5'- CAGCAAGCAGGAGGAGGTC -3'
(R):5'- CTGTATATAGACGGGATTGCCTCC -3'
Posted On 2020-10-20