Incidental Mutation 'IGL02798:Arhgef17'
ID360032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef17
Ensembl Gene ENSMUSG00000032875
Gene NameRho guanine nucleotide exchange factor (GEF) 17
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02798
Quality Score
Status
Chromosome7
Chromosomal Location100869752-100932107 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100929626 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 705 (V705A)
Ref Sequence ENSEMBL: ENSMUSP00000102647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107032]
Predicted Effect probably benign
Transcript: ENSMUST00000107032
AA Change: V705A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102647
Gene: ENSMUSG00000032875
AA Change: V705A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,040,275 C514S probably damaging Het
Alcam A G 16: 52,305,639 I105T probably damaging Het
Arhgef10l A T 4: 140,565,130 probably null Het
C87436 T A 6: 86,446,202 C253S probably benign Het
Cbx7 T C 15: 79,918,399 T226A probably damaging Het
Cdh20 T C 1: 104,947,465 I324T probably damaging Het
Celsr3 A T 9: 108,843,575 H2608L probably damaging Het
Cramp1l A G 17: 24,968,920 probably benign Het
Ddx25 A G 9: 35,551,397 C231R probably damaging Het
Emilin2 A G 17: 71,256,695 probably benign Het
Fam46a A T 9: 85,324,884 V287E probably damaging Het
Hip1r T C 5: 123,994,712 probably benign Het
Insrr C T 3: 87,810,517 P842S probably damaging Het
Lama1 G T 17: 67,795,191 probably benign Het
Lig3 T C 11: 82,795,705 probably benign Het
Lrp4 C A 2: 91,476,710 T392K probably benign Het
Msl2 G T 9: 101,075,377 R33S probably benign Het
Nrde2 T A 12: 100,143,822 K317* probably null Het
Nub1 C A 5: 24,692,814 A42D probably damaging Het
Obox2 T C 7: 15,396,882 V13A possibly damaging Het
Olfr1341 T C 4: 118,709,499 F31L probably damaging Het
Olfr202 A T 16: 59,284,115 C127* probably null Het
Olfr729 T A 14: 50,148,378 K165N probably benign Het
Phkb T C 8: 86,043,777 Y892H probably benign Het
Ptdss1 A G 13: 66,976,760 Y341C probably damaging Het
Ripor2 A T 13: 24,674,666 D147V probably damaging Het
Scn7a T C 2: 66,713,875 D424G probably benign Het
Scn9a C T 2: 66,540,559 R559Q possibly damaging Het
Sctr G A 1: 120,022,180 C33Y probably damaging Het
Sh2b2 G T 5: 136,221,963 A419E probably damaging Het
Slc22a30 A T 19: 8,370,085 M317K probably damaging Het
Slc39a4 T C 15: 76,615,182 S178G probably benign Het
Slc7a12 T A 3: 14,481,157 C121S probably damaging Het
Slmap T C 14: 26,470,378 S148G possibly damaging Het
Tktl2 A G 8: 66,513,311 K507R probably benign Het
Ttn T G 2: 76,755,863 K21841N probably damaging Het
Ugcg T C 4: 59,220,346 Y380H probably damaging Het
Zfp106 T C 2: 120,510,510 T1840A probably damaging Het
Zmynd8 T C 2: 165,852,150 probably null Het
Other mutations in Arhgef17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Arhgef17 APN 7 100929449 missense probably benign
IGL01071:Arhgef17 APN 7 100885700 missense probably damaging 0.99
IGL01882:Arhgef17 APN 7 100878580 nonsense probably null
IGL01995:Arhgef17 APN 7 100928655 missense probably benign 0.02
IGL02213:Arhgef17 APN 7 100890426 missense probably benign
IGL02380:Arhgef17 APN 7 100929443 missense possibly damaging 0.60
IGL02551:Arhgef17 APN 7 100930346 missense probably damaging 1.00
IGL02613:Arhgef17 APN 7 100928896 missense probably damaging 1.00
IGL02643:Arhgef17 APN 7 100883882 missense possibly damaging 0.95
IGL03113:Arhgef17 APN 7 100929731 missense probably benign 0.00
IGL03264:Arhgef17 APN 7 100880013 missense probably benign 0.00
R0064:Arhgef17 UTSW 7 100881354 missense probably benign 0.00
R0189:Arhgef17 UTSW 7 100928850 missense probably damaging 1.00
R0482:Arhgef17 UTSW 7 100880621 missense probably damaging 1.00
R0826:Arhgef17 UTSW 7 100930743 missense probably benign 0.01
R1295:Arhgef17 UTSW 7 100881269 nonsense probably null
R1296:Arhgef17 UTSW 7 100881269 nonsense probably null
R1389:Arhgef17 UTSW 7 100931037 small deletion probably benign
R1466:Arhgef17 UTSW 7 100929659 missense possibly damaging 0.48
R1466:Arhgef17 UTSW 7 100929659 missense possibly damaging 0.48
R1513:Arhgef17 UTSW 7 100930862 missense probably benign
R1539:Arhgef17 UTSW 7 100890473 missense probably damaging 1.00
R1644:Arhgef17 UTSW 7 100929504 missense probably damaging 1.00
R1789:Arhgef17 UTSW 7 100929870 missense probably damaging 1.00
R1861:Arhgef17 UTSW 7 100882268 missense probably damaging 1.00
R1868:Arhgef17 UTSW 7 100878977 missense probably benign
R2009:Arhgef17 UTSW 7 100881781 missense probably damaging 0.98
R2095:Arhgef17 UTSW 7 100881263 missense probably damaging 1.00
R2311:Arhgef17 UTSW 7 100928904 missense probably benign 0.35
R3607:Arhgef17 UTSW 7 100931172 missense probably damaging 1.00
R3882:Arhgef17 UTSW 7 100876454 missense possibly damaging 0.70
R4089:Arhgef17 UTSW 7 100883799 missense probably damaging 1.00
R4420:Arhgef17 UTSW 7 100882308 splice site probably benign
R4536:Arhgef17 UTSW 7 100929854 missense probably damaging 1.00
R4548:Arhgef17 UTSW 7 100931129 missense possibly damaging 0.60
R4616:Arhgef17 UTSW 7 100882485 missense probably damaging 1.00
R5040:Arhgef17 UTSW 7 100876825 missense probably benign 0.17
R5100:Arhgef17 UTSW 7 100881756 missense possibly damaging 0.90
R5233:Arhgef17 UTSW 7 100881369 missense possibly damaging 0.61
R5307:Arhgef17 UTSW 7 100929428 missense probably benign 0.00
R5313:Arhgef17 UTSW 7 100928924 missense probably damaging 0.99
R5643:Arhgef17 UTSW 7 100880011 missense probably damaging 1.00
R5704:Arhgef17 UTSW 7 100881341 missense probably damaging 1.00
R6166:Arhgef17 UTSW 7 100876492 missense probably damaging 1.00
R6417:Arhgef17 UTSW 7 100930062 missense probably damaging 1.00
R6420:Arhgef17 UTSW 7 100930062 missense probably damaging 1.00
R6510:Arhgef17 UTSW 7 100878536 missense probably damaging 0.97
R6877:Arhgef17 UTSW 7 100881341 missense probably damaging 1.00
R6888:Arhgef17 UTSW 7 100930820 missense possibly damaging 0.74
R7016:Arhgef17 UTSW 7 100878977 missense probably benign
R7073:Arhgef17 UTSW 7 100929991 nonsense probably null
R7322:Arhgef17 UTSW 7 100877797 missense probably benign 0.01
R7691:Arhgef17 UTSW 7 100929642 missense probably damaging 1.00
R7724:Arhgef17 UTSW 7 100880609 missense probably damaging 1.00
R7728:Arhgef17 UTSW 7 100930068 missense probably benign 0.00
R7829:Arhgef17 UTSW 7 100876845 missense probably benign 0.03
R8036:Arhgef17 UTSW 7 100929855 missense probably damaging 1.00
R8072:Arhgef17 UTSW 7 100881797 missense probably benign 0.04
X0012:Arhgef17 UTSW 7 100928904 missense probably benign 0.35
Posted On2015-12-18