Incidental Mutation 'R3861:Arhgef10l'
ID 276335
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
MMRRC Submission 040788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R3861 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140242798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1072 (F1072L)
Ref Sequence ENSEMBL: ENSMUSP00000095431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799]
AlphaFold A2AWP8
Predicted Effect possibly damaging
Transcript: ENSMUST00000039204
AA Change: F1111L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: F1111L

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 possibly damaging
Transcript: ENSMUST00000069623
AA Change: F1077L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: F1077L

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: F1072L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: F1072L

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
AA Change: F824L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101423
Gene: ENSMUSG00000040964
AA Change: F824L

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: F876L

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: F876L

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: F1116L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: F1116L

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 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 0.4813 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik G A 12: 18,583,411 (GRCm39) S157N probably benign Het
A830018L16Rik T C 1: 11,658,778 (GRCm39) probably benign Het
Akip1 C T 7: 109,306,613 (GRCm39) probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Armc1 C T 3: 19,189,196 (GRCm39) R186Q probably damaging Het
Atxn2l A T 7: 126,101,123 (GRCm39) probably null Het
Cadps2 A G 6: 23,355,860 (GRCm39) I849T probably damaging Het
Ccdc28a T A 10: 18,100,743 (GRCm39) Q28L probably damaging Het
Cdh4 T A 2: 179,515,890 (GRCm39) V356D probably damaging Het
Chd8 T A 14: 52,474,578 (GRCm39) Q151L probably benign Het
Chgb T A 2: 132,635,064 (GRCm39) H335Q probably damaging Het
Col19a1 G A 1: 24,365,098 (GRCm39) P506S probably damaging Het
Col5a2 T C 1: 45,419,397 (GRCm39) T1228A probably damaging Het
Cpxm2 A G 7: 131,656,648 (GRCm39) V538A probably benign Het
Cramp1 A T 17: 25,216,588 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,423,832 (GRCm39) R831G probably benign Het
Cyp4f17 A G 17: 32,747,078 (GRCm39) D436G probably damaging Het
Dcaf6 A T 1: 165,256,838 (GRCm39) N48K probably damaging Het
Ddx50 C A 10: 62,478,725 (GRCm39) V154L possibly damaging Het
Dnah9 T C 11: 65,943,820 (GRCm39) probably benign Het
Dnm3 T A 1: 162,138,974 (GRCm39) I395L possibly damaging Het
Elp2 C T 18: 24,739,977 (GRCm39) R68C probably benign Het
Frg1 A T 8: 41,860,820 (GRCm39) probably null Het
Fsip2 G T 2: 82,815,120 (GRCm39) D3618Y probably damaging Het
Gabra2 T C 5: 71,130,886 (GRCm39) D314G probably damaging Het
Gramd1a A C 7: 30,835,365 (GRCm39) D407E possibly damaging Het
Grm5 T A 7: 87,779,202 (GRCm39) S881T possibly damaging Het
Ikbkb T A 8: 23,168,852 (GRCm39) I216F possibly damaging Het
Kif3a T C 11: 53,488,805 (GRCm39) V634A probably benign Het
Ltbp1 A T 17: 75,666,333 (GRCm39) Y1342F possibly damaging Het
Mia2 G T 12: 59,155,807 (GRCm39) V508L probably benign Het
Mtus2 C T 5: 148,250,223 (GRCm39) T155M probably damaging Het
Napepld A T 5: 21,888,287 (GRCm39) V54E probably benign Het
Nlrc4 T C 17: 74,752,616 (GRCm39) E589G probably benign Het
Nphp3 G T 9: 103,916,525 (GRCm39) probably benign Het
Nr2f1 T A 13: 78,343,794 (GRCm39) R10* probably null Het
Nsfl1c C A 2: 151,352,824 (GRCm39) probably null Het
Or14a258 A G 7: 86,035,331 (GRCm39) V179A possibly damaging Het
Pcdhgc3 A G 18: 37,941,581 (GRCm39) T661A probably damaging Het
Pdzrn3 A G 6: 101,149,332 (GRCm39) V332A possibly damaging Het
Pip4p2 A G 4: 14,902,506 (GRCm39) N169S probably damaging Het
Pkhd1 C T 1: 20,271,151 (GRCm39) C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,894 (GRCm39) V1131A probably damaging Het
Rccd1 T C 7: 79,970,116 (GRCm39) E167G probably benign Het
Ror1 T C 4: 100,265,120 (GRCm39) I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scly C T 1: 91,230,573 (GRCm39) probably benign Het
Scn4a T C 11: 106,216,950 (GRCm39) probably benign Het
Sh3rf2 T C 18: 42,286,384 (GRCm39) S594P probably damaging Het
Slc19a1 G A 10: 76,877,809 (GRCm39) V115M possibly damaging Het
Slc26a6 A T 9: 108,731,395 (GRCm39) probably benign Het
Smg7 C T 1: 152,728,349 (GRCm39) R439K probably null Het
Spata31e3 T C 13: 50,400,887 (GRCm39) K480E probably benign Het
Syne2 A G 12: 76,013,253 (GRCm39) R2815G probably damaging Het
Trim75 G A 8: 65,435,479 (GRCm39) R324C probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Zscan29 G C 2: 120,991,212 (GRCm39) R859G 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
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'- AGCAGGATGCCTTTCTTGC -3'
(R):5'- AGAATGCCTCCACTTTGTAGAGTC -3'

Sequencing Primer
(F):5'- GCCTTTCTTGCGGGTCAGC -3'
(R):5'- GCGTAGACAGATCCTATAGCCTCTG -3'
Posted On 2015-04-06