Incidental Mutation 'R5313:Arhgef17'
ID 405699
Institutional Source Beutler Lab
Gene Symbol Arhgef17
Ensembl Gene ENSMUSG00000032875
Gene Name Rho guanine nucleotide exchange factor 17
Synonyms
MMRRC Submission 042896-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5313 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 100518959-100581314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100578131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 939 (L939W)
Ref Sequence ENSEMBL: ENSMUSP00000102647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107032]
AlphaFold Q80U35
Predicted Effect probably damaging
Transcript: ENSMUST00000107032
AA Change: L939W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: L939W

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,022,603 (GRCm39) C519R probably damaging Het
Adgra3 A T 5: 50,118,651 (GRCm39) S966T probably benign Het
Adgrl2 A G 3: 148,529,349 (GRCm39) Y1115H probably damaging Het
Adgrl3 A T 5: 81,874,516 (GRCm39) I938F probably damaging Het
Arhgef18 A G 8: 3,501,629 (GRCm39) probably null Het
Armh3 G A 19: 45,807,414 (GRCm39) R661W probably damaging Het
Cacna1d A C 14: 30,068,798 (GRCm39) I147S probably benign Het
Cdc42bpa T G 1: 179,911,998 (GRCm39) D525E probably benign Het
Cdh6 T A 15: 13,034,723 (GRCm39) I646F probably damaging Het
Col6a5 T G 9: 105,822,743 (GRCm39) I205L unknown Het
Cpox T A 16: 58,498,311 (GRCm39) Y381* probably null Het
Ctsc T C 7: 87,958,761 (GRCm39) V347A probably damaging Het
Dnaaf9 C T 2: 130,551,188 (GRCm39) E1027K probably damaging Het
Ephb6 A T 6: 41,593,727 (GRCm39) T537S possibly damaging Het
Fam135a T C 1: 24,067,666 (GRCm39) I168V possibly damaging Het
Fam234b T A 6: 135,186,185 (GRCm39) D64E possibly damaging Het
Fgfr2 A T 7: 129,842,970 (GRCm39) D157E probably benign Het
Fstl5 A T 3: 76,500,812 (GRCm39) I414F possibly damaging Het
Glp2r T C 11: 67,648,357 (GRCm39) D115G probably damaging Het
Gpr85 A T 6: 13,836,301 (GRCm39) V201D probably damaging Het
Ido1 A C 8: 25,077,794 (GRCm39) I91S probably damaging Het
Ism2 G A 12: 87,326,536 (GRCm39) P468S probably damaging Het
Map2 A G 1: 66,464,538 (GRCm39) K1643E probably damaging Het
Or10ak8 A G 4: 118,773,995 (GRCm39) V223A probably benign Het
Or4c122 C T 2: 89,079,721 (GRCm39) E106K probably benign Het
Or5b112 G A 19: 13,319,429 (GRCm39) M102I probably benign Het
Or6c2 C T 10: 129,362,950 (GRCm39) P285S probably damaging Het
Ppargc1a A G 5: 51,615,581 (GRCm39) probably benign Het
Prpf4b T C 13: 35,078,532 (GRCm39) V714A probably damaging Het
Septin8 C T 11: 53,426,809 (GRCm39) T190I probably damaging Het
Slc18a2 A G 19: 59,282,275 (GRCm39) K494R probably benign Het
Slc34a2 A T 5: 53,226,681 (GRCm39) K542N probably damaging Het
Snd1 C A 6: 28,668,600 (GRCm39) T429K probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Timm10b T C 7: 105,290,287 (GRCm39) L60P probably damaging Het
Tmprss11a A T 5: 86,559,674 (GRCm39) Y373N probably damaging Het
Usp17la T A 7: 104,510,457 (GRCm39) V354D probably benign Het
Zbtb7b G T 3: 89,288,626 (GRCm39) T64K probably damaging 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
R1644:Arhgef17 UTSW 7 100,578,711 (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
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'- CAAGTGATGGTGCCTGCAAG -3'
(R):5'- ACCTATCCTTGCAGAGCAGTG -3'

Sequencing Primer
(F):5'- CTGCAAGGCGGGATGGC -3'
(R):5'- CTATCCTTGCAGAGCAGTGGACAG -3'
Posted On 2016-07-22