Incidental Mutation 'R0057:Arhgef10l'
ID17156
Institutional Source Beutler Lab
Gene Symbol Arhgef10l
Ensembl Gene ENSMUSG00000040964
Gene NameRho guanine nucleotide exchange factor (GEF) 10-like
Synonyms2810441C07Rik
MMRRC Submission 038351-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #R0057 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location140514485-140666012 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 140611218 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039204] [ENSMUST00000069623] [ENSMUST00000097820] [ENSMUST00000105799] [ENSMUST00000143614] [ENSMUST00000154979]
Predicted Effect probably benign
Transcript: ENSMUST00000039204
SMART Domains Protein: ENSMUSP00000040531
Gene: ENSMUSG00000040964

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
SMART Domains Protein: ENSMUSP00000066249
Gene: ENSMUSG00000040964

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
SMART Domains Protein: ENSMUSP00000095431
Gene: ENSMUSG00000040964

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: ENSMUST00000105799
SMART Domains Protein: ENSMUSP00000101425
Gene: ENSMUSG00000040964

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: ENSMUST00000143614
SMART Domains Protein: ENSMUSP00000120437
Gene: ENSMUSG00000040964

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
Predicted Effect probably benign
Transcript: ENSMUST00000154979
SMART Domains Protein: ENSMUSP00000122667
Gene: ENSMUSG00000040964

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
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,941,559 F1309L possibly damaging Het
Abcc6 C T 7: 46,020,143 A163T probably benign Het
Adam23 T A 1: 63,570,919 H693Q probably damaging Het
Afg3l2 A G 18: 67,423,086 F392L probably damaging Het
Ak9 A T 10: 41,392,728 T1055S probably benign Het
Ap5z1 T C 5: 142,470,389 probably benign Het
Bloc1s6 T A 2: 122,744,221 probably benign Het
Caskin1 A G 17: 24,504,896 N886S probably damaging Het
Celsr1 A C 15: 86,030,762 S1003R probably benign Het
Ctse G T 1: 131,663,371 D97Y probably damaging Het
Cux1 T A 5: 136,256,282 I505F probably damaging Het
Dcaf11 T C 14: 55,569,310 V490A probably benign Het
Dscam A C 16: 96,673,736 W1209G probably damaging Het
Emc8 A G 8: 120,659,083 probably benign Het
Entpd6 A G 2: 150,758,828 K152R probably null Het
Eps8l2 C T 7: 141,342,971 T49I probably benign Het
Fuk C T 8: 110,893,768 probably benign Het
Gm12251 C A 11: 58,393,041 probably benign Het
Gna11 A G 10: 81,530,940 M312T probably benign Het
Hacd2 T A 16: 35,075,627 V105D probably damaging Het
Il17a T A 1: 20,733,657 I92N probably damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Irak4 A C 15: 94,553,872 R115S probably benign Het
Jarid2 C T 13: 44,884,856 H77Y probably damaging Het
Kcnk6 A T 7: 29,225,663 L176Q probably damaging Het
Kmt2b A T 7: 30,576,792 probably benign Het
Kremen2 A C 17: 23,743,228 I210S possibly damaging Het
Ldah T C 12: 8,238,432 probably benign Het
Lgals9 A T 11: 78,971,436 probably benign Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Msh4 C T 3: 153,869,681 A686T probably benign Het
Mycbp2 T C 14: 103,152,142 N3411D probably damaging Het
Myt1l A G 12: 29,842,612 probably null Het
Nmbr A G 10: 14,760,524 N79S probably damaging Het
Npsr1 A T 9: 24,300,427 I84F probably damaging Het
Olfr1022 C A 2: 85,869,253 Y220* probably null Het
Olfr1346 T C 7: 6,474,680 L190P probably damaging Het
Olfr648 G T 7: 104,180,329 H26Q probably benign Het
Prlr A G 15: 10,328,423 Y328C probably damaging Het
Rasal3 A G 17: 32,391,383 S977P probably benign Het
Ros1 C T 10: 52,180,191 V68I probably benign Het
RP24-170A20.3 T A 10: 39,891,097 probably benign Het
Shmt2 G A 10: 127,521,048 T31M possibly damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Snrnp200 C G 2: 127,237,907 L1899V probably damaging Het
Snrnp48 T A 13: 38,216,380 C154* probably null Het
Tdrd6 G A 17: 43,617,161 probably benign Het
Tmem175 C T 5: 108,639,562 H92Y probably damaging Het
Tom1l1 G A 11: 90,685,149 probably benign Het
Top3a C T 11: 60,740,684 A951T probably benign Het
Tram2 C T 1: 21,006,154 R184Q probably damaging Het
Trpc4ap T C 2: 155,640,486 E528G possibly damaging Het
Vwa7 G A 17: 35,024,547 S710N possibly damaging Het
Zfa-ps A T 10: 52,545,106 noncoding transcript Het
Zfp770 T A 2: 114,197,232 R119* probably null Het
Other mutations in Arhgef10l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Arhgef10l APN 4 140570338 missense probably damaging 0.98
IGL01732:Arhgef10l APN 4 140580415 missense probably damaging 0.99
IGL01988:Arhgef10l APN 4 140578361 splice site probably benign
IGL02031:Arhgef10l APN 4 140575345 missense probably damaging 1.00
IGL02253:Arhgef10l APN 4 140544284 nonsense probably null
IGL02445:Arhgef10l APN 4 140547007 missense probably benign 0.19
IGL02619:Arhgef10l APN 4 140594193 missense probably benign 0.07
IGL02798:Arhgef10l APN 4 140565130 critical splice donor site probably null
IGL03064:Arhgef10l APN 4 140579279 missense probably damaging 1.00
IGL03178:Arhgef10l APN 4 140544428 missense possibly damaging 0.92
IGL03236:Arhgef10l APN 4 140611360 missense probably damaging 1.00
IGL03352:Arhgef10l APN 4 140583931 start codon destroyed probably null 0.99
PIT4494001:Arhgef10l UTSW 4 140565211 missense probably damaging 0.98
R0062:Arhgef10l UTSW 4 140552532 missense probably damaging 1.00
R0109:Arhgef10l UTSW 4 140578294 missense probably benign 0.02
R0109:Arhgef10l UTSW 4 140578294 missense probably benign 0.02
R0114:Arhgef10l UTSW 4 140583883 missense probably benign 0.17
R0334:Arhgef10l UTSW 4 140583926 nonsense probably null
R0742:Arhgef10l UTSW 4 140536845 missense probably damaging 1.00
R1017:Arhgef10l UTSW 4 140515306 missense probably damaging 0.99
R1166:Arhgef10l UTSW 4 140575270 unclassified probably benign
R1397:Arhgef10l UTSW 4 140544443 missense probably damaging 0.98
R1521:Arhgef10l UTSW 4 140515438 missense possibly damaging 0.95
R1707:Arhgef10l UTSW 4 140564289 missense probably damaging 1.00
R1793:Arhgef10l UTSW 4 140515373 missense probably damaging 0.97
R2018:Arhgef10l UTSW 4 140544384 missense probably damaging 1.00
R2093:Arhgef10l UTSW 4 140570290 missense possibly damaging 0.57
R2098:Arhgef10l UTSW 4 140579432 missense probably damaging 1.00
R2310:Arhgef10l UTSW 4 140593118 missense probably damaging 1.00
R2879:Arhgef10l UTSW 4 140515287 missense probably benign 0.09
R2883:Arhgef10l UTSW 4 140516802 missense probably benign 0.02
R3732:Arhgef10l UTSW 4 140581619 small deletion probably benign
R3732:Arhgef10l UTSW 4 140581619 small deletion probably benign
R3861:Arhgef10l UTSW 4 140515487 missense possibly damaging 0.94
R4049:Arhgef10l UTSW 4 140515451 missense probably benign 0.05
R4322:Arhgef10l UTSW 4 140542726 missense probably benign 0.07
R4707:Arhgef10l UTSW 4 140536883 missense possibly damaging 0.63
R5395:Arhgef10l UTSW 4 140570290 missense probably benign 0.16
R5720:Arhgef10l UTSW 4 140581619 small deletion probably benign
R6066:Arhgef10l UTSW 4 140577080 missense probably damaging 1.00
R6190:Arhgef10l UTSW 4 140542762 missense possibly damaging 0.90
R6464:Arhgef10l UTSW 4 140586815 missense probably benign 0.05
R6476:Arhgef10l UTSW 4 140611382 missense probably damaging 1.00
R6478:Arhgef10l UTSW 4 140542757 missense possibly damaging 0.91
R6483:Arhgef10l UTSW 4 140616915 missense probably damaging 0.99
R6631:Arhgef10l UTSW 4 140517747 intron probably benign
R6721:Arhgef10l UTSW 4 140570344 missense probably damaging 1.00
R6890:Arhgef10l UTSW 4 140544419 missense probably damaging 1.00
R7098:Arhgef10l UTSW 4 140580911 missense probably benign 0.01
R7100:Arhgef10l UTSW 4 140516815 missense possibly damaging 0.60
R7117:Arhgef10l UTSW 4 140564186 critical splice donor site probably null
Z1088:Arhgef10l UTSW 4 140581735 missense possibly damaging 0.53
Posted On2013-01-20