Incidental Mutation 'R0109:Arhgef10l'
ID 64195
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 038395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0109 (G1)
Quality Score 152
Status Not validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140305605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 203 (S203T)
Ref Sequence ENSEMBL: ENSMUSP00000123642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000147426]
AlphaFold A2AWP8
Predicted Effect probably benign
Transcript: ENSMUST00000039204
AA Change: S420T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: S420T

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: S381T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: S381T

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: S381T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: S381T

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 benign
Transcript: ENSMUST00000105797
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964

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: S180T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: S180T

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: S420T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: S420T

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 noncoding transcript
Transcript: ENSMUST00000125045
Predicted Effect probably benign
Transcript: ENSMUST00000147426
AA Change: S203T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123642
Gene: ENSMUSG00000040964
AA Change: S203T

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
RhoGEF 101 262 5.44e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138493
SMART Domains Protein: ENSMUSP00000119471
Gene: ENSMUSG00000040964

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
Meta Mutation Damage Score 0.0760 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,917,985 (GRCm39) K1496* probably null Het
Anapc1 C A 2: 128,476,613 (GRCm39) R1335L probably damaging Het
Astn1 C T 1: 158,491,674 (GRCm39) T41I possibly damaging Het
Avil A G 10: 126,849,513 (GRCm39) N603S probably benign Het
Brca1 T C 11: 101,421,916 (GRCm39) D149G possibly damaging Het
Col19a1 A C 1: 24,598,849 (GRCm39) probably null Het
Cps1 T C 1: 67,268,577 (GRCm39) V1435A possibly damaging Het
Cyp2j6 A T 4: 96,406,394 (GRCm39) I459N probably damaging Het
Cyth1 T C 11: 118,073,132 (GRCm39) E242G probably damaging Het
Dclk3 T G 9: 111,296,738 (GRCm39) L94R possibly damaging Het
Dsg3 T C 18: 20,673,191 (GRCm39) V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 (GRCm39) D309V probably damaging Het
Efhd2 A G 4: 141,601,878 (GRCm39) F101L probably benign Het
Fgd5 T A 6: 91,965,216 (GRCm39) M325K possibly damaging Het
Fras1 T C 5: 96,857,936 (GRCm39) S2077P probably benign Het
Frmpd1 A T 4: 45,279,340 (GRCm39) E688D probably benign Het
Hspg2 T C 4: 137,289,512 (GRCm39) V3824A probably benign Het
Kctd16 A G 18: 40,392,204 (GRCm39) E264G probably benign Het
Mapk15 A T 15: 75,867,926 (GRCm39) K153* probably null Het
Miox G A 15: 89,219,784 (GRCm39) V91I probably benign Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Or4a69 A G 2: 89,313,147 (GRCm39) F111L probably benign Het
Or52d1 T C 7: 103,755,812 (GRCm39) S109P probably damaging Het
Or5b94 C A 19: 12,652,224 (GRCm39) F218L probably benign Het
Parp9 T C 16: 35,768,711 (GRCm39) I64T probably damaging Het
Pfkfb4 T C 9: 108,827,957 (GRCm39) V43A probably benign Het
Pgap1 A T 1: 54,533,984 (GRCm39) V643E probably damaging Het
Pip5k1b T A 19: 24,356,411 (GRCm39) M176L probably benign Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Prdx2 G A 8: 85,696,880 (GRCm39) G4S probably benign Het
Rin3 A G 12: 102,279,340 (GRCm39) I50V possibly damaging Het
Rtl1 G A 12: 109,561,841 (GRCm39) probably benign Het
Sgsm3 G C 15: 80,893,667 (GRCm39) D434H probably damaging Het
Shank2 T C 7: 143,964,314 (GRCm39) S634P possibly damaging Het
Sik2 A G 9: 50,810,775 (GRCm39) M447T possibly damaging Het
Sla2 A G 2: 156,725,507 (GRCm39) probably null Het
Spata16 T A 3: 26,967,416 (GRCm39) F389I probably damaging Het
Srebf1 G A 11: 60,092,630 (GRCm39) A793V probably benign Het
Tmed11 T A 5: 108,925,278 (GRCm39) D178V probably damaging Het
Traf7 A G 17: 24,732,900 (GRCm39) F110L probably benign Het
Ttn T A 2: 76,555,908 (GRCm39) I30366F probably damaging Het
Ubqlnl C T 7: 103,799,399 (GRCm39) V33M probably damaging Het
Vmn1r194 A G 13: 22,429,217 (GRCm39) Y278C probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r114 A T 17: 23,529,549 (GRCm39) Y184* probably null Het
Vmn2r53 C T 7: 12,315,993 (GRCm39) A609T probably damaging Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Xirp2 T A 2: 67,349,622 (GRCm39) N3272K probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp454 T A 11: 50,774,602 (GRCm39) T24S possibly 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
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
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'- CAGCCTTGAACCTTGTGCTTGC -3'
(R):5'- TGTAGACTCTGGCTTCTGTGACCC -3'

Sequencing Primer
(F):5'- AGGTTTGCCCCAGAAACTG -3'
(R):5'- GGCTTCTGTGACCCTGACTG -3'
Posted On 2013-08-06