Incidental Mutation 'R4616:Arhgef17'
ID 351045
Institutional Source Beutler Lab
Gene Symbol Arhgef17
Ensembl Gene ENSMUSG00000032875
Gene Name Rho guanine nucleotide exchange factor 17
Synonyms
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4616 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100518959-100581314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100531692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1302 (F1302S)
Ref Sequence ENSEMBL: ENSMUSP00000102647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107032] [ENSMUST00000209041]
AlphaFold Q80U35
Predicted Effect probably damaging
Transcript: ENSMUST00000107032
AA Change: F1302S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: F1302S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175555
Predicted Effect probably benign
Transcript: ENSMUST00000208482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208735
Predicted Effect possibly damaging
Transcript: ENSMUST00000209041
AA Change: F293S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.9335 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly 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
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'- TTGCTGGCTGTATCAATGACG -3'
(R):5'- AATGGGAGCCCTGCATGAATC -3'

Sequencing Primer
(F):5'- TATCAATGACGCTGGCTGC -3'
(R):5'- TGAATCCCGATTCCACATAAGTG -3'
Posted On 2015-10-08