Incidental Mutation 'IGL03352:Arhgef10l'
ID 419779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene Name Rho guanine nucleotide exchange factor 10-like
Synonyms 2810441C07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL03352
Quality Score
Status
Chromosome 4
Chromosomal Location 140241796-140393318 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 140311242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000101424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105797] [ENSMUST00000105798] [ENSMUST00000105799] [ENSMUST00000147426]
AlphaFold A2AWP8
Predicted Effect probably damaging
Transcript: ENSMUST00000039204
AA Change: M241K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964
AA Change: M241K

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: M202K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964
AA Change: M202K

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 damaging
Transcript: ENSMUST00000097820
AA Change: M202K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964
AA Change: M202K

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 null
Transcript: ENSMUST00000105798
AA Change: M1K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101424
Gene: ENSMUSG00000040964
AA Change: M1K

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 damaging
Transcript: ENSMUST00000105799
AA Change: M241K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964
AA Change: M241K

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
SMART Domains Protein: ENSMUSP00000123642
Gene: ENSMUSG00000040964

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
RhoGEF 101 262 5.44e-33 SMART
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,184,213 (GRCm39) S426G probably benign Het
Arap3 T C 18: 38,114,355 (GRCm39) probably benign Het
Arhgap45 T A 10: 79,866,585 (GRCm39) N1029K probably damaging Het
Bloc1s6 T C 2: 122,584,638 (GRCm39) L71P probably damaging Het
Ccer1 G T 10: 97,529,439 (GRCm39) R34M unknown Het
Cd44 T C 2: 102,675,759 (GRCm39) probably benign Het
Col17a1 T C 19: 47,669,814 (GRCm39) probably null Het
Cspp1 A G 1: 10,117,662 (GRCm39) E38G possibly damaging Het
Dock10 A T 1: 80,584,013 (GRCm39) probably benign Het
Dsg3 A T 18: 20,660,689 (GRCm39) M343L probably benign Het
Eif3l G A 15: 78,961,251 (GRCm39) probably benign Het
Fcrl1 T C 3: 87,292,398 (GRCm39) L150P probably benign Het
Flg2 T G 3: 93,109,801 (GRCm39) S610A unknown Het
Grin3b C T 10: 79,809,615 (GRCm39) R374C probably damaging Het
H2-Oa A T 17: 34,313,377 (GRCm39) I143F probably damaging Het
Itgae C T 11: 73,022,556 (GRCm39) P924S probably damaging Het
Itpr2 T A 6: 146,058,602 (GRCm39) D2521V probably damaging Het
Itprid2 T A 2: 79,475,445 (GRCm39) M468K probably damaging Het
Laptm4a G A 12: 8,981,719 (GRCm39) G143D probably benign Het
Lrp6 T C 6: 134,456,726 (GRCm39) Y846C probably damaging Het
Mcm10 A T 2: 4,999,407 (GRCm39) S749T probably damaging Het
Nemf T C 12: 69,378,679 (GRCm39) N548D probably damaging Het
Nlrp4e T A 7: 23,020,251 (GRCm39) L246Q probably damaging Het
Nsun6 A T 2: 15,001,157 (GRCm39) C466* probably null Het
Olfm2 T C 9: 20,580,019 (GRCm39) D252G probably damaging Het
Or10j5 A C 1: 172,784,850 (GRCm39) M163L probably benign Het
Or14j9 T A 17: 37,874,681 (GRCm39) I174F probably damaging Het
Or2h1 G A 17: 37,404,311 (GRCm39) L152F probably benign Het
Or9i14 T C 19: 13,792,292 (GRCm39) I221V probably damaging Het
Pcdhb14 C T 18: 37,582,057 (GRCm39) R388C possibly damaging Het
Piwil1 C T 5: 128,828,136 (GRCm39) T712I probably benign Het
Piwil4 G T 9: 14,637,183 (GRCm39) T377K probably damaging Het
Prg3 T C 2: 84,823,370 (GRCm39) F182L probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Retsat T C 6: 72,575,666 (GRCm39) V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 (GRCm38) noncoding transcript Het
Sh3glb2 A G 2: 30,235,363 (GRCm39) V370A probably damaging Het
Skint4 G T 4: 112,022,883 (GRCm39) W459C possibly damaging Het
Slco1a1 T A 6: 141,857,611 (GRCm39) R573S probably benign Het
Smgc T C 15: 91,744,876 (GRCm39) S694P probably damaging Het
Spaca6 A G 17: 18,058,401 (GRCm39) Y7C probably damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Tepsin C T 11: 119,982,703 (GRCm39) V456I probably benign Het
Tex261 C T 6: 83,748,249 (GRCm39) R171Q possibly damaging Het
Tmem184a A T 5: 139,798,755 (GRCm39) F65I probably damaging Het
Tpm3 G A 3: 89,995,052 (GRCm39) probably null Het
Tubgcp2 T A 7: 139,580,940 (GRCm39) H671L probably benign Het
Unc13b T G 4: 43,237,110 (GRCm39) D3393E possibly damaging Het
Vcan T A 13: 89,853,125 (GRCm39) M612L probably benign Het
Vmn1r180 C A 7: 23,652,077 (GRCm39) S80* probably null Het
Vmn1r64 C T 7: 5,887,070 (GRCm39) V158I probably benign Het
Vps13d C T 4: 144,894,072 (GRCm39) V496I possibly damaging Het
Wee2 T G 6: 40,429,589 (GRCm39) probably null Het
Zfp804b T C 5: 6,820,039 (GRCm39) N972S 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
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
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
Posted On 2016-08-02