Incidental Mutation 'R8072:Arhgef17'
ID 620288
Institutional Source Beutler Lab
Gene Symbol Arhgef17
Ensembl Gene ENSMUSG00000032875
Gene Name Rho guanine nucleotide exchange factor 17
Synonyms
MMRRC Submission 067507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8072 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 100518959-100581314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100531004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 352 (T352S)
Ref Sequence ENSEMBL: ENSMUSP00000146564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107032] [ENSMUST00000209041]
AlphaFold Q80U35
Predicted Effect probably benign
Transcript: ENSMUST00000107032
AA Change: T1361S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: T1361S

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 probably benign
Transcript: ENSMUST00000208482
Predicted Effect probably benign
Transcript: ENSMUST00000209041
AA Change: T352S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,574 (GRCm39) S2146P probably benign Het
Acad9 G A 3: 36,129,404 (GRCm39) V160I probably benign Het
Ace T C 11: 105,863,785 (GRCm39) V411A probably damaging Het
Ankrd66 T C 17: 43,854,526 (GRCm39) E2G possibly damaging Het
Apol6 A T 15: 76,935,303 (GRCm39) T191S probably benign Het
Atad2 C T 15: 57,963,374 (GRCm39) R1081Q possibly damaging Het
Atg3 G T 16: 45,008,048 (GRCm39) V297F probably damaging Het
Atp9b A C 18: 80,808,276 (GRCm39) S663A Het
Col10a1 G T 10: 34,266,663 (GRCm39) V16F unknown Het
Col3a1 G A 1: 45,360,734 (GRCm39) V55I unknown Het
Ctns T C 11: 73,082,572 (GRCm39) T53A probably benign Het
Cyp2b23 A T 7: 26,365,431 (GRCm39) I468N probably damaging Het
Dcbld2 G A 16: 58,283,460 (GRCm39) W565* probably null Het
Esco2 A T 14: 66,070,130 (GRCm39) N16K probably benign Het
Fggy A G 4: 95,732,394 (GRCm39) N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Gm4846 T C 1: 166,322,241 (GRCm39) T109A probably benign Het
H2-M11 G T 17: 36,859,026 (GRCm39) V189L probably benign Het
Hmcn1 T A 1: 150,532,256 (GRCm39) T3175S possibly damaging Het
Hook2 G A 8: 85,721,120 (GRCm39) V184M probably benign Het
Hspa4l A T 3: 40,741,178 (GRCm39) D730V probably damaging Het
Igkv4-68 C T 6: 69,282,113 (GRCm39) M19I probably benign Het
Igsf9b C A 9: 27,228,660 (GRCm39) T140N possibly damaging Het
Kcnj1 G A 9: 32,308,593 (GRCm39) R339Q probably damaging Het
Lcn8 T G 2: 25,545,184 (GRCm39) L118W probably damaging Het
Lin28a A G 4: 133,745,453 (GRCm39) F47L possibly damaging Het
Loxl4 T C 19: 42,596,021 (GRCm39) E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgprb1 C A 7: 48,097,895 (GRCm39) E6* probably null Het
Mthfsd A C 8: 121,825,555 (GRCm39) Y339D probably damaging Het
Mup11 A T 4: 60,615,777 (GRCm39) F153L probably damaging Het
Pcdhac2 G A 18: 37,278,717 (GRCm39) V566M probably benign Het
Plpp7 G T 2: 31,986,121 (GRCm39) A100S probably benign Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprd A G 4: 76,004,273 (GRCm39) F161L probably benign Het
Pwp2 G A 10: 78,007,930 (GRCm39) A875V possibly damaging Het
Rhd A G 4: 134,611,460 (GRCm39) T207A possibly damaging Het
Sh2d3c C T 2: 32,643,150 (GRCm39) R778C probably damaging Het
Slc34a3 A C 2: 25,119,289 (GRCm39) V527G probably benign Het
Smad2 T C 18: 76,420,022 (GRCm39) probably null Het
Sp110 GTACT GTACTACT 1: 85,515,207 (GRCm39) probably benign Het
Spata21 C T 4: 140,839,317 (GRCm39) Q611* probably null Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tial1 T C 7: 128,044,194 (GRCm39) T107A unknown Het
Ubxn6 C A 17: 56,380,195 (GRCm39) R42L probably benign Het
Vmn2r90 A T 17: 17,947,142 (GRCm39) N473I probably damaging Het
Ythdc1 T A 5: 86,969,133 (GRCm39) Y351* probably null 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
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
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'- AAAGCCAAGACTGTCTGTCCC -3'
(R):5'- GTGACTCTAAACCAGACCTCTC -3'

Sequencing Primer
(F):5'- AAGACTGTCTGTCCCTCAGG -3'
(R):5'- TTTCTGAGAGCTACCTGTTGAC -3'
Posted On 2020-01-23