Incidental Mutation 'R8301:Arhgef17'
ID 639261
Institutional Source Beutler Lab
Gene Symbol Arhgef17
Ensembl Gene ENSMUSG00000032875
Gene Name Rho guanine nucleotide exchange factor 17
Synonyms
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100518959-100581314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100528866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1591 (T1591A)
Ref Sequence ENSEMBL: ENSMUSP00000102647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107032] [ENSMUST00000209041]
AlphaFold Q80U35
Predicted Effect probably benign
Transcript: ENSMUST00000107032
AA Change: T1591A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: T1591A

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
AA Change: T17A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect unknown
Transcript: ENSMUST00000209041
AA Change: T582A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,120,364 (GRCm39) I374F probably benign Het
Ak9 G A 10: 41,300,712 (GRCm39) V1108I Het
Aldh16a1 C T 7: 44,791,406 (GRCm39) A790T possibly damaging Het
Anks1 A T 17: 28,278,554 (GRCm39) probably benign Het
Antxr2 T G 5: 98,125,538 (GRCm39) T240P probably benign Het
Arfgef1 A T 1: 10,250,058 (GRCm39) M945K probably damaging Het
Aurka A G 2: 172,198,850 (GRCm39) S374P probably damaging Het
Bccip T C 7: 133,320,933 (GRCm39) S236P probably benign Het
Cacna1s T A 1: 136,001,179 (GRCm39) probably benign Het
Calm1 A G 12: 100,171,944 (GRCm39) E132G probably benign Het
Casz1 A G 4: 149,030,500 (GRCm39) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm39) D413G probably damaging Het
Cfap57 A G 4: 118,450,271 (GRCm39) I617T possibly damaging Het
Creb5 A G 6: 53,658,018 (GRCm39) D116G possibly damaging Het
Csnka2ip A C 16: 64,299,354 (GRCm39) S337A unknown Het
Ddx60 A G 8: 62,453,631 (GRCm39) E1250G probably benign Het
Dlgap2 T A 8: 14,873,577 (GRCm39) S727T probably benign Het
Dpy19l1 T C 9: 24,396,407 (GRCm39) probably benign Het
Ebf2 A G 14: 67,476,431 (GRCm39) T134A possibly damaging Het
Echdc2 A T 4: 108,030,106 (GRCm39) M136L probably benign Het
Enpp2 A G 15: 54,714,803 (GRCm39) F598S probably benign Het
Extl3 A C 14: 65,313,733 (GRCm39) L483R probably damaging Het
Gcat T C 15: 78,920,089 (GRCm39) V227A possibly damaging Het
Hsf2 A G 10: 57,381,442 (GRCm39) D344G probably damaging Het
Ighm C T 12: 113,385,165 (GRCm39) G265D Het
Igsf9b T G 9: 27,246,035 (GRCm39) probably benign Het
Ints6 A G 14: 62,939,902 (GRCm39) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm39) E182G probably damaging Het
Iqgap2 A G 13: 95,818,659 (GRCm39) probably null Het
Kalrn G T 16: 34,177,470 (GRCm39) Q250K probably benign Het
Lrrc1 T A 9: 77,451,770 (GRCm39) N46Y probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa50 A G 16: 43,977,494 (GRCm39) N74S probably benign Het
Neb T C 2: 52,178,847 (GRCm39) N1303S probably benign Het
Nfs1 A T 2: 155,976,413 (GRCm39) C160* probably null Het
Or11g7 T A 14: 50,691,021 (GRCm39) S171T probably benign Het
Or52s1b T G 7: 102,822,280 (GRCm39) K188T probably damaging Het
Or5p52 A G 7: 107,502,833 (GRCm39) K303R probably benign Het
Or6c76 T C 10: 129,612,709 (GRCm39) S309P probably benign Het
Orm2 T C 4: 63,281,263 (GRCm39) F67S possibly damaging Het
Pex5 A G 6: 124,382,142 (GRCm39) S180P probably benign Het
Phf14 G C 6: 11,992,061 (GRCm39) G746R probably damaging Het
Pkm T A 9: 59,575,914 (GRCm39) V110E probably damaging Het
Plekha6 T G 1: 133,192,425 (GRCm39) N78K probably damaging Het
Plxna2 G A 1: 194,472,483 (GRCm39) V1076I probably benign Het
Polq C A 16: 36,882,181 (GRCm39) D1448E probably damaging Het
Pot1b T C 17: 55,994,895 (GRCm39) T256A probably benign Het
Prkch C T 12: 73,749,538 (GRCm39) T377I possibly damaging Het
Prl3c1 A C 13: 27,383,168 (GRCm39) probably benign Het
Prl7b1 A C 13: 27,786,755 (GRCm39) V158G possibly damaging Het
Prss22 T C 17: 24,212,955 (GRCm39) S261G probably damaging Het
Psd T C 19: 46,309,541 (GRCm39) probably benign Het
Psg18 A T 7: 18,087,302 (GRCm39) Y119N probably damaging Het
Rbm6 T G 9: 107,729,993 (GRCm39) R218S probably damaging Het
Rnf213 T A 11: 119,325,568 (GRCm39) S1491T Het
Rsf1 T C 7: 97,311,132 (GRCm39) S621P Het
Runx1 C A 16: 92,402,544 (GRCm39) *466L probably null Het
Samd4 A G 14: 47,254,135 (GRCm39) I200V probably benign Het
Sdsl C T 5: 120,597,584 (GRCm39) C241Y probably benign Het
Selenon T C 4: 134,278,725 (GRCm39) probably benign Het
Setx C T 2: 29,035,702 (GRCm39) P729L possibly damaging Het
Sf1 C T 19: 6,418,396 (GRCm39) Q55* probably null Het
Slc12a5 A T 2: 164,835,611 (GRCm39) N833I probably damaging Het
Slc1a4 T C 11: 20,282,286 (GRCm39) R63G probably damaging Het
Tmeff2 G T 1: 51,220,996 (GRCm39) A324S probably benign Het
Tmem217 A G 17: 29,745,466 (GRCm39) I88T possibly damaging Het
Tnfsf8 A T 4: 63,779,115 (GRCm39) I61N probably benign Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trhde T A 10: 114,322,911 (GRCm39) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm39) T1598A probably benign Het
Vmn2r73 A T 7: 85,507,510 (GRCm39) C601S probably benign Het
Zfp873 C A 10: 81,896,713 (GRCm39) H481Q 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
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
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'- ACACTCACTTCCAAAGCTGG -3'
(R):5'- AGTACATTGAATGTTGACCCGG -3'

Sequencing Primer
(F):5'- GGAAATGGTAGATTGGCTGGC -3'
(R):5'- AATGTTGACCCGGTGGCG -3'
Posted On 2020-07-28