Incidental Mutation 'R1644:Arhgef17'
ID 173749
Institutional Source Beutler Lab
Gene Symbol Arhgef17
Ensembl Gene ENSMUSG00000032875
Gene Name Rho guanine nucleotide exchange factor 17
Synonyms
MMRRC Submission 039680-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1644 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100518959-100581314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100578711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 746 (F746I)
Ref Sequence ENSEMBL: ENSMUSP00000102647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107032]
AlphaFold Q80U35
Predicted Effect probably damaging
Transcript: ENSMUST00000107032
AA Change: F746I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: F746I

DomainStartEndE-ValueType
low complexity region 65 74 N/A INTRINSIC
low complexity region 160 175 N/A INTRINSIC
low complexity region 196 209 N/A INTRINSIC
low complexity region 227 255 N/A INTRINSIC
low complexity region 282 297 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
low complexity region 507 526 N/A INTRINSIC
low complexity region 559 572 N/A INTRINSIC
low complexity region 828 842 N/A INTRINSIC
low complexity region 970 984 N/A INTRINSIC
RhoGEF 1063 1246 9.56e-61 SMART
Blast:PH 1281 1466 4e-88 BLAST
low complexity region 1582 1595 N/A INTRINSIC
low complexity region 1630 1642 N/A INTRINSIC
low complexity region 1646 1657 N/A INTRINSIC
low complexity region 1661 1701 N/A INTRINSIC
low complexity region 1708 1719 N/A INTRINSIC
low complexity region 2033 2040 N/A INTRINSIC
Meta Mutation Damage Score 0.0981 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,484,814 (GRCm39) R8* probably null Het
Acacb A T 5: 114,333,346 (GRCm39) H490L probably damaging Het
Ace C A 11: 105,875,932 (GRCm39) H417N probably damaging Het
Adamtsl3 A G 7: 82,099,298 (GRCm39) N151D possibly damaging Het
Agap1 A G 1: 89,591,452 (GRCm39) N114S probably damaging Het
Arap3 A T 18: 38,117,298 (GRCm39) V926D probably damaging Het
Arhgap12 A T 18: 6,112,340 (GRCm39) I8N probably benign Het
Atp6v0a1 T C 11: 100,929,612 (GRCm39) S471P possibly damaging Het
Bdp1 A G 13: 100,197,448 (GRCm39) V979A probably benign Het
Ccdc88c C A 12: 100,879,733 (GRCm39) R1789L probably damaging Het
Cckar A T 5: 53,857,215 (GRCm39) N327K probably benign Het
Cfap65 T C 1: 74,956,334 (GRCm39) T1082A probably damaging Het
Clcn7 T A 17: 25,378,672 (GRCm39) I719N probably damaging Het
Col27a1 C G 4: 63,246,868 (GRCm39) probably benign Het
Cspp1 C T 1: 10,196,663 (GRCm39) T179I probably damaging Het
Dnah1 C T 14: 31,024,249 (GRCm39) probably benign Het
Dnah6 A G 6: 73,132,279 (GRCm39) V1141A probably benign Het
Dusp4 A G 8: 35,285,633 (GRCm39) Y298C probably damaging Het
Efhc1 C A 1: 21,037,625 (GRCm39) Y267* probably null Het
Eif2s1 T A 12: 78,913,295 (GRCm39) probably null Het
Epo A G 5: 137,481,417 (GRCm39) V169A possibly damaging Het
Esr1 A T 10: 4,951,380 (GRCm39) Y586F probably benign Het
Fat2 T C 11: 55,178,609 (GRCm39) T1484A possibly damaging Het
Fat2 T C 11: 55,187,007 (GRCm39) T1280A possibly damaging Het
Gm5828 T C 1: 16,839,485 (GRCm39) noncoding transcript Het
Idh3b T C 2: 130,123,430 (GRCm39) I187V possibly damaging Het
Kif13a A C 13: 46,947,398 (GRCm39) V862G probably benign Het
Kndc1 A G 7: 139,510,669 (GRCm39) D1327G probably damaging Het
Mfsd9 T A 1: 40,812,958 (GRCm39) R452S probably benign Het
Myh15 C T 16: 48,952,566 (GRCm39) R879C probably benign Het
Naip2 T C 13: 100,319,437 (GRCm39) R260G possibly damaging Het
Npat T G 9: 53,481,472 (GRCm39) L1060R probably damaging Het
Or2aj4 T A 16: 19,385,156 (GRCm39) H159L probably benign Het
Or4c126 A T 2: 89,824,297 (GRCm39) T187S possibly damaging Het
Or4c15 A T 2: 88,759,731 (GRCm39) D309E probably benign Het
Or52n2b A C 7: 104,566,015 (GRCm39) F163V probably benign Het
Or6f2 T C 7: 139,756,561 (GRCm39) V176A probably benign Het
Pld5 T C 1: 175,803,192 (GRCm39) T296A possibly damaging Het
Polq C T 16: 36,880,626 (GRCm39) A651V probably damaging Het
Polr3a G A 14: 24,520,692 (GRCm39) P607S probably damaging Het
Ranbp9 G A 13: 43,566,015 (GRCm39) R424C probably damaging Het
Rsl1 G A 13: 67,325,229 (GRCm39) probably benign Het
Sema4c A G 1: 36,589,885 (GRCm39) S490P probably damaging Het
Setd3 A T 12: 108,079,603 (GRCm39) L300Q possibly damaging Het
Slc15a3 T C 19: 10,834,595 (GRCm39) I492T possibly damaging Het
Stag1 T C 9: 100,762,953 (GRCm39) probably benign Het
Tgm4 A G 9: 122,880,481 (GRCm39) Y294C probably damaging Het
Tm9sf1 A G 14: 55,878,757 (GRCm39) S212P probably benign Het
Tmcc1 A G 6: 116,110,826 (GRCm39) S156P probably damaging Het
Vmn1r184 A C 7: 25,966,670 (GRCm39) M139L probably benign Het
Vmn1r209 A C 13: 22,990,652 (GRCm39) F13V possibly damaging Het
Xkr5 T C 8: 18,984,141 (GRCm39) E467G probably benign Het
Zdbf2 C T 1: 63,348,131 (GRCm39) S2170L possibly damaging Het
Zfp277 G T 12: 40,379,609 (GRCm39) probably null Het
Zfp62 T C 11: 49,106,596 (GRCm39) I229T probably damaging Het
Zfp810 A G 9: 22,190,324 (GRCm39) S195P possibly damaging Het
Zfp94 G A 7: 24,010,927 (GRCm39) probably benign Het
Other mutations in Arhgef17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Arhgef17 APN 7 100,578,656 (GRCm39) missense probably benign
IGL01071:Arhgef17 APN 7 100,534,907 (GRCm39) missense probably damaging 0.99
IGL01882:Arhgef17 APN 7 100,527,787 (GRCm39) nonsense probably null
IGL01995:Arhgef17 APN 7 100,577,862 (GRCm39) missense probably benign 0.02
IGL02213:Arhgef17 APN 7 100,539,633 (GRCm39) missense probably benign
IGL02380:Arhgef17 APN 7 100,578,650 (GRCm39) missense possibly damaging 0.60
IGL02551:Arhgef17 APN 7 100,579,553 (GRCm39) missense probably damaging 1.00
IGL02613:Arhgef17 APN 7 100,578,103 (GRCm39) missense probably damaging 1.00
IGL02643:Arhgef17 APN 7 100,533,089 (GRCm39) missense possibly damaging 0.95
IGL02798:Arhgef17 APN 7 100,578,833 (GRCm39) missense probably benign 0.00
IGL03113:Arhgef17 APN 7 100,578,938 (GRCm39) missense probably benign 0.00
IGL03264:Arhgef17 APN 7 100,529,220 (GRCm39) missense probably benign 0.00
G1Funyon:Arhgef17 UTSW 7 100,528,866 (GRCm39) missense probably benign 0.00
R0064:Arhgef17 UTSW 7 100,530,561 (GRCm39) missense probably benign 0.00
R0189:Arhgef17 UTSW 7 100,578,057 (GRCm39) missense probably damaging 1.00
R0482:Arhgef17 UTSW 7 100,529,828 (GRCm39) missense probably damaging 1.00
R0826:Arhgef17 UTSW 7 100,579,950 (GRCm39) missense probably benign 0.01
R1295:Arhgef17 UTSW 7 100,530,476 (GRCm39) nonsense probably null
R1296:Arhgef17 UTSW 7 100,530,476 (GRCm39) nonsense probably null
R1389:Arhgef17 UTSW 7 100,580,244 (GRCm39) small deletion probably benign
R1466:Arhgef17 UTSW 7 100,578,866 (GRCm39) missense possibly damaging 0.48
R1466:Arhgef17 UTSW 7 100,578,866 (GRCm39) missense possibly damaging 0.48
R1513:Arhgef17 UTSW 7 100,580,069 (GRCm39) missense probably benign
R1539:Arhgef17 UTSW 7 100,539,680 (GRCm39) missense probably damaging 1.00
R1789:Arhgef17 UTSW 7 100,579,077 (GRCm39) missense probably damaging 1.00
R1861:Arhgef17 UTSW 7 100,531,475 (GRCm39) missense probably damaging 1.00
R1868:Arhgef17 UTSW 7 100,528,184 (GRCm39) missense probably benign
R2009:Arhgef17 UTSW 7 100,530,988 (GRCm39) missense probably damaging 0.98
R2095:Arhgef17 UTSW 7 100,530,470 (GRCm39) missense probably damaging 1.00
R2311:Arhgef17 UTSW 7 100,578,111 (GRCm39) missense probably benign 0.35
R3607:Arhgef17 UTSW 7 100,580,379 (GRCm39) missense probably damaging 1.00
R3882:Arhgef17 UTSW 7 100,525,661 (GRCm39) missense possibly damaging 0.70
R4089:Arhgef17 UTSW 7 100,533,006 (GRCm39) missense probably damaging 1.00
R4420:Arhgef17 UTSW 7 100,531,515 (GRCm39) splice site probably benign
R4536:Arhgef17 UTSW 7 100,579,061 (GRCm39) missense probably damaging 1.00
R4548:Arhgef17 UTSW 7 100,580,336 (GRCm39) missense possibly damaging 0.60
R4616:Arhgef17 UTSW 7 100,531,692 (GRCm39) missense probably damaging 1.00
R5040:Arhgef17 UTSW 7 100,526,032 (GRCm39) missense probably benign 0.17
R5100:Arhgef17 UTSW 7 100,530,963 (GRCm39) missense possibly damaging 0.90
R5233:Arhgef17 UTSW 7 100,530,576 (GRCm39) missense possibly damaging 0.61
R5307:Arhgef17 UTSW 7 100,578,635 (GRCm39) missense probably benign 0.00
R5313:Arhgef17 UTSW 7 100,578,131 (GRCm39) missense probably damaging 0.99
R5643:Arhgef17 UTSW 7 100,529,218 (GRCm39) missense probably damaging 1.00
R5704:Arhgef17 UTSW 7 100,530,548 (GRCm39) missense probably damaging 1.00
R6166:Arhgef17 UTSW 7 100,525,699 (GRCm39) missense probably damaging 1.00
R6417:Arhgef17 UTSW 7 100,579,269 (GRCm39) missense probably damaging 1.00
R6420:Arhgef17 UTSW 7 100,579,269 (GRCm39) missense probably damaging 1.00
R6510:Arhgef17 UTSW 7 100,527,743 (GRCm39) missense probably damaging 0.97
R6877:Arhgef17 UTSW 7 100,530,548 (GRCm39) missense probably damaging 1.00
R6888:Arhgef17 UTSW 7 100,580,027 (GRCm39) missense possibly damaging 0.74
R7016:Arhgef17 UTSW 7 100,528,184 (GRCm39) missense probably benign
R7073:Arhgef17 UTSW 7 100,579,198 (GRCm39) nonsense probably null
R7322:Arhgef17 UTSW 7 100,527,004 (GRCm39) missense probably benign 0.01
R7691:Arhgef17 UTSW 7 100,578,849 (GRCm39) missense probably damaging 1.00
R7724:Arhgef17 UTSW 7 100,529,816 (GRCm39) missense probably damaging 1.00
R7728:Arhgef17 UTSW 7 100,579,275 (GRCm39) missense probably benign 0.00
R7829:Arhgef17 UTSW 7 100,526,052 (GRCm39) missense probably benign 0.03
R8036:Arhgef17 UTSW 7 100,579,062 (GRCm39) missense probably damaging 1.00
R8072:Arhgef17 UTSW 7 100,531,004 (GRCm39) missense probably benign 0.04
R8301:Arhgef17 UTSW 7 100,528,866 (GRCm39) missense probably benign 0.00
R8935:Arhgef17 UTSW 7 100,527,324 (GRCm39) missense probably benign 0.03
R8958:Arhgef17 UTSW 7 100,579,019 (GRCm39) missense probably damaging 0.98
R9221:Arhgef17 UTSW 7 100,528,818 (GRCm39) missense possibly damaging 0.78
R9362:Arhgef17 UTSW 7 100,580,165 (GRCm39) missense probably benign 0.12
R9499:Arhgef17 UTSW 7 100,526,102 (GRCm39) missense possibly damaging 0.52
R9593:Arhgef17 UTSW 7 100,532,009 (GRCm39) missense probably damaging 1.00
X0012:Arhgef17 UTSW 7 100,578,111 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- GCCCCTGAACGATACTCTGAATGAC -3'
(R):5'- TTCCTCTACTTCAGCGCAGACAAAC -3'

Sequencing Primer
(F):5'- GAACGATACTCTGAATGACTTCCTG -3'
(R):5'- GGCCCTTGTGTCTCCTGAG -3'
Posted On 2014-04-24