Incidental Mutation 'IGL01012:Arhgap17'
ID 53656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap17
Ensembl Gene ENSMUSG00000030766
Gene Name Rho GTPase activating protein 17
Synonyms Rich1, Nadrin2, Nadrin, 5730403H17Rik, WBP15
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01012
Quality Score
Status
Chromosome 7
Chromosomal Location 122878441-122969138 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 122885791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098060] [ENSMUST00000106442] [ENSMUST00000167309] [ENSMUST00000205262] [ENSMUST00000206117] [ENSMUST00000207010]
AlphaFold Q3UIA2
Predicted Effect unknown
Transcript: ENSMUST00000098060
AA Change: H702Q
SMART Domains Protein: ENSMUSP00000095668
Gene: ENSMUSG00000030766
AA Change: H702Q

DomainStartEndE-ValueType
BAR 1 239 4.45e-65 SMART
RhoGAP 263 439 1.2e-60 SMART
low complexity region 554 595 N/A INTRINSIC
low complexity region 624 640 N/A INTRINSIC
low complexity region 644 664 N/A INTRINSIC
low complexity region 683 704 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106442
AA Change: H780Q
SMART Domains Protein: ENSMUSP00000102050
Gene: ENSMUSG00000030766
AA Change: H780Q

DomainStartEndE-ValueType
BAR 1 239 4.45e-65 SMART
RhoGAP 263 439 1.2e-60 SMART
low complexity region 542 557 N/A INTRINSIC
low complexity region 570 582 N/A INTRINSIC
low complexity region 632 673 N/A INTRINSIC
low complexity region 702 718 N/A INTRINSIC
low complexity region 722 742 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000167309
AA Change: H780Q
SMART Domains Protein: ENSMUSP00000128447
Gene: ENSMUSG00000030766
AA Change: H780Q

DomainStartEndE-ValueType
BAR 1 239 4.45e-65 SMART
RhoGAP 263 439 1.2e-60 SMART
low complexity region 542 557 N/A INTRINSIC
low complexity region 570 582 N/A INTRINSIC
low complexity region 632 673 N/A INTRINSIC
low complexity region 702 718 N/A INTRINSIC
low complexity region 722 742 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000205262
AA Change: H702Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205785
Predicted Effect probably benign
Transcript: ENSMUST00000206117
Predicted Effect unknown
Transcript: ENSMUST00000207010
AA Change: H702Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206803
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,972,772 (GRCm39) M249K possibly damaging Het
Adamtsl1 T C 4: 86,260,426 (GRCm39) F879S possibly damaging Het
Afap1l2 T C 19: 56,918,693 (GRCm39) E30G probably damaging Het
Aqp9 A G 9: 71,037,831 (GRCm39) probably benign Het
Arhgef10 T C 8: 15,029,977 (GRCm39) S921P probably damaging Het
Atp6v0e2 T C 6: 48,514,749 (GRCm39) I22T probably damaging Het
AY074887 C T 9: 54,857,963 (GRCm39) probably benign Het
Bcl2l15 T A 3: 103,740,730 (GRCm39) D65E probably damaging Het
C2cd6 A T 1: 59,036,507 (GRCm39) probably benign Het
Ccdc138 G A 10: 58,376,737 (GRCm39) probably null Het
Ccdc7b A G 8: 129,904,838 (GRCm39) T159A possibly damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cd300ld2 T A 11: 114,903,123 (GRCm39) I241F probably benign Het
Cep192 T A 18: 67,945,477 (GRCm39) N192K possibly damaging Het
Csmd1 T C 8: 15,967,341 (GRCm39) K3174R probably benign Het
Dpy30 A T 17: 74,614,749 (GRCm39) L65I probably damaging Het
Eci2 A T 13: 35,174,312 (GRCm39) L83* probably null Het
F7 A T 8: 13,083,409 (GRCm39) E183V probably damaging Het
Gabrg1 T C 5: 70,935,512 (GRCm39) K214R probably benign Het
Galr2 A T 11: 116,173,996 (GRCm39) T209S probably damaging Het
Gimap9 T C 6: 48,654,851 (GRCm39) probably null Het
Gip C A 11: 95,916,285 (GRCm39) F28L probably benign Het
Gpd2 A G 2: 57,254,542 (GRCm39) N662S probably benign Het
Grik2 T G 10: 49,149,052 (GRCm39) D511A probably damaging Het
Ift122 T A 6: 115,876,452 (GRCm39) Y563N probably damaging Het
Ipo8 A G 6: 148,690,561 (GRCm39) probably benign Het
Islr T C 9: 58,064,511 (GRCm39) E332G probably damaging Het
Itgb7 G A 15: 102,136,020 (GRCm39) S5L probably benign Het
Itpr2 G A 6: 146,246,659 (GRCm39) R1087W probably damaging Het
Katnal2 C A 18: 77,105,250 (GRCm39) V66F probably damaging Het
Krt81 T C 15: 101,358,900 (GRCm39) D284G probably benign Het
Krtap4-8 T A 11: 99,670,831 (GRCm39) probably benign Het
Map1s C A 8: 71,366,554 (GRCm39) N486K probably benign Het
Med13l G A 5: 118,872,093 (GRCm39) D842N probably damaging Het
Mef2c T A 13: 83,803,714 (GRCm39) M306K probably damaging Het
Myb C T 10: 21,022,159 (GRCm39) V377I probably benign Het
Myocd C T 11: 65,075,451 (GRCm39) G558R possibly damaging Het
Nars1 G T 18: 64,638,039 (GRCm39) A305E probably damaging Het
Neb A T 2: 52,086,373 (GRCm39) N5233K probably benign Het
Nipsnap2 T C 5: 129,823,503 (GRCm39) I181T possibly damaging Het
Or10d4b A T 9: 39,534,661 (GRCm39) M81L probably benign Het
Or1s2 T C 19: 13,758,937 (GRCm39) probably benign Het
P3h2 A C 16: 25,805,998 (GRCm39) C282G probably damaging Het
Pcgf5 T A 19: 36,420,268 (GRCm39) C167S probably damaging Het
Pck2 T C 14: 55,781,526 (GRCm39) probably benign Het
Peli2 C T 14: 48,490,187 (GRCm39) R169* probably null Het
Pramel16 T A 4: 143,676,784 (GRCm39) probably benign Het
Psme3ip1 G A 8: 95,313,990 (GRCm39) R104W probably damaging Het
Ralgapa2 T A 2: 146,263,659 (GRCm39) Q686L possibly damaging Het
Scap C A 9: 110,191,488 (GRCm39) P50H probably damaging Het
Sh3rf2 T A 18: 42,187,257 (GRCm39) D125E possibly damaging Het
Slc25a38 T C 9: 119,945,560 (GRCm39) probably benign Het
Slc35a5 A G 16: 44,964,195 (GRCm39) V346A probably damaging Het
Smad4 T A 18: 73,808,880 (GRCm39) N129I probably damaging Het
Sod2 C T 17: 13,232,464 (GRCm39) A163V possibly damaging Het
Spred3 T A 7: 28,860,948 (GRCm39) probably benign Het
Stag1 C A 9: 100,737,912 (GRCm39) A423E possibly damaging Het
Stk17b A T 1: 53,800,196 (GRCm39) S261T probably benign Het
Stx3 T C 19: 11,769,152 (GRCm39) K58E probably damaging Het
Timm10b C A 7: 105,290,345 (GRCm39) Y79* probably null Het
Tmem204 T C 17: 25,289,329 (GRCm39) D97G probably damaging Het
Tnfrsf25 T C 4: 152,202,885 (GRCm39) V181A probably benign Het
Trim54 T G 5: 31,294,302 (GRCm39) S313A probably benign Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Vmn2r23 A G 6: 123,706,555 (GRCm39) T462A probably benign Het
Wdr27 T A 17: 15,146,509 (GRCm39) H162L probably damaging Het
Other mutations in Arhgap17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Arhgap17 APN 7 122,917,640 (GRCm39) missense possibly damaging 0.92
IGL02117:Arhgap17 APN 7 122,885,996 (GRCm39) utr 3 prime probably benign
IGL03062:Arhgap17 APN 7 122,921,097 (GRCm39) splice site probably null
gensing UTSW 7 122,913,913 (GRCm39) missense probably damaging 1.00
Nightshade UTSW 7 122,926,467 (GRCm39) missense probably damaging 1.00
tuberose UTSW 7 122,907,600 (GRCm39) missense probably damaging 1.00
yam UTSW 7 122,905,643 (GRCm39) missense probably damaging 1.00
P0028:Arhgap17 UTSW 7 122,885,900 (GRCm39) utr 3 prime probably benign
R0480:Arhgap17 UTSW 7 122,893,867 (GRCm39) missense probably damaging 0.98
R0593:Arhgap17 UTSW 7 122,885,966 (GRCm39) utr 3 prime probably benign
R0594:Arhgap17 UTSW 7 122,893,741 (GRCm39) missense probably benign 0.00
R0599:Arhgap17 UTSW 7 122,903,013 (GRCm39) splice site probably benign
R0751:Arhgap17 UTSW 7 122,913,913 (GRCm39) missense probably damaging 1.00
R1184:Arhgap17 UTSW 7 122,913,913 (GRCm39) missense probably damaging 1.00
R1791:Arhgap17 UTSW 7 122,885,925 (GRCm39) missense probably benign 0.23
R2036:Arhgap17 UTSW 7 122,917,717 (GRCm39) missense possibly damaging 0.92
R3428:Arhgap17 UTSW 7 122,922,854 (GRCm39) missense probably damaging 1.00
R4032:Arhgap17 UTSW 7 122,879,289 (GRCm39) utr 3 prime probably benign
R4119:Arhgap17 UTSW 7 122,906,217 (GRCm39) missense probably damaging 1.00
R4652:Arhgap17 UTSW 7 122,885,841 (GRCm39) utr 3 prime probably benign
R4687:Arhgap17 UTSW 7 122,920,826 (GRCm39) missense probably damaging 1.00
R4910:Arhgap17 UTSW 7 122,907,600 (GRCm39) missense probably damaging 1.00
R4960:Arhgap17 UTSW 7 122,886,149 (GRCm39) utr 3 prime probably benign
R4963:Arhgap17 UTSW 7 122,907,583 (GRCm39) missense possibly damaging 0.91
R5028:Arhgap17 UTSW 7 122,893,896 (GRCm39) missense probably benign 0.05
R5253:Arhgap17 UTSW 7 122,902,971 (GRCm39) missense probably benign 0.00
R5316:Arhgap17 UTSW 7 122,895,750 (GRCm39) missense possibly damaging 0.63
R5410:Arhgap17 UTSW 7 122,896,716 (GRCm39) critical splice donor site probably null
R5890:Arhgap17 UTSW 7 122,885,981 (GRCm39) utr 3 prime probably benign
R6367:Arhgap17 UTSW 7 122,907,586 (GRCm39) makesense probably null
R6376:Arhgap17 UTSW 7 122,899,727 (GRCm39) missense probably damaging 1.00
R6513:Arhgap17 UTSW 7 122,891,379 (GRCm39) missense possibly damaging 0.87
R6862:Arhgap17 UTSW 7 122,921,124 (GRCm39) missense probably damaging 0.98
R6962:Arhgap17 UTSW 7 122,895,655 (GRCm39) missense probably damaging 1.00
R7077:Arhgap17 UTSW 7 122,879,231 (GRCm39) missense unknown
R7178:Arhgap17 UTSW 7 122,884,581 (GRCm39) splice site probably null
R7205:Arhgap17 UTSW 7 122,905,661 (GRCm39) missense probably damaging 1.00
R7342:Arhgap17 UTSW 7 122,926,467 (GRCm39) missense probably damaging 1.00
R7524:Arhgap17 UTSW 7 122,905,643 (GRCm39) missense probably damaging 1.00
R7812:Arhgap17 UTSW 7 122,879,290 (GRCm39) missense unknown
R7901:Arhgap17 UTSW 7 122,885,791 (GRCm39) utr 3 prime probably benign
R7950:Arhgap17 UTSW 7 122,886,039 (GRCm39) missense probably benign 0.23
R7952:Arhgap17 UTSW 7 122,885,914 (GRCm39) missense probably benign 0.23
R8842:Arhgap17 UTSW 7 122,893,750 (GRCm39) missense probably benign 0.07
R9460:Arhgap17 UTSW 7 122,879,286 (GRCm39) missense unknown
R9630:Arhgap17 UTSW 7 122,907,540 (GRCm39) missense probably benign 0.02
R9766:Arhgap17 UTSW 7 122,921,148 (GRCm39) missense probably benign 0.27
RF009:Arhgap17 UTSW 7 122,886,085 (GRCm39) small deletion probably benign
RF015:Arhgap17 UTSW 7 122,886,085 (GRCm39) small deletion probably benign
Posted On 2013-06-28