Incidental Mutation 'R6033:Arhgap8'
ID480537
Institutional Source Beutler Lab
Gene Symbol Arhgap8
Ensembl Gene ENSMUSG00000078954
Gene NameRho GTPase activating protein 8
Synonyms
MMRRC Submission 044205-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6033 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location84720052-84772207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84741925 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 67 (E67G)
Ref Sequence ENSEMBL: ENSMUSP00000132008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006029] [ENSMUST00000168811] [ENSMUST00000172307]
Predicted Effect probably damaging
Transcript: ENSMUST00000006029
AA Change: E67G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000006029
Gene: ENSMUSG00000078954
AA Change: E67G

DomainStartEndE-ValueType
SEC14 14 165 1.48e-26 SMART
low complexity region 174 192 N/A INTRINSIC
RhoGAP 207 378 2.93e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167499
Predicted Effect probably damaging
Transcript: ENSMUST00000168811
AA Change: E67G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130977
Gene: ENSMUSG00000078954
AA Change: E67G

DomainStartEndE-ValueType
SEC14 14 165 1.48e-26 SMART
low complexity region 174 192 N/A INTRINSIC
RhoGAP 207 378 2.93e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172307
AA Change: E67G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132008
Gene: ENSMUSG00000078954
AA Change: E67G

DomainStartEndE-ValueType
SEC14 14 165 1.48e-26 SMART
low complexity region 174 192 N/A INTRINSIC
RhoGAP 207 378 2.93e-55 SMART
Meta Mutation Damage Score 0.2734 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.9%
  • 20x: 89.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,178,372 E72G probably damaging Het
Adgrl1 T A 8: 83,918,922 V58E probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alas1 A G 9: 106,241,204 S240P probably damaging Het
Alox12e C T 11: 70,316,013 G616D probably benign Het
Ash1l T C 3: 88,985,019 Y1402H probably damaging Het
Ccdc150 G T 1: 54,285,628 probably null Het
Cmtm8 T C 9: 114,796,073 T97A probably damaging Het
Cnmd T C 14: 79,661,505 S36G probably benign Het
Dnah3 A C 7: 120,071,647 N609K probably benign Het
Dph1 C T 11: 75,191,197 probably benign Het
Drosha G A 15: 12,925,999 A1225T probably benign Het
Eid3 T A 10: 82,867,653 I316K probably damaging Het
Erich6 A G 3: 58,623,201 L449S probably benign Het
Fhod1 T C 8: 105,336,434 probably benign Het
Glra1 A G 11: 55,527,419 Y250H probably damaging Het
Gm6768 A G 12: 119,261,740 noncoding transcript Het
Hivep1 A G 13: 42,157,107 E941G probably benign Het
Homer2 A C 7: 81,618,679 S78A possibly damaging Het
Ica1 T A 6: 8,630,799 probably null Het
Ifna12 T C 4: 88,602,917 E131G possibly damaging Het
Igbp1b T C 6: 138,658,209 Y79C probably damaging Het
Incenp C T 19: 9,872,697 V871I probably damaging Het
Jaml G A 9: 45,088,710 G60D probably damaging Het
Kcp C T 6: 29,493,194 C110Y probably damaging Het
Manba T C 3: 135,549,261 V460A probably benign Het
Myrfl A T 10: 116,849,101 C125S probably benign Het
Ncan T C 8: 70,112,590 D229G probably damaging Het
Nlrp10 A T 7: 108,924,577 D565E probably benign Het
Npas2 T C 1: 39,338,180 V541A probably damaging Het
Nsg2 G A 11: 32,055,058 V87M possibly damaging Het
Olfr1040 A T 2: 86,146,269 V155E probably damaging Het
Prkd2 C T 7: 16,865,714 R701C probably damaging Het
Prss36 T C 7: 127,934,567 R22G probably benign Het
Psmd1 T C 1: 86,137,095 Y950H probably damaging Het
Slc45a4 G A 15: 73,581,976 A716V probably damaging Het
Slc46a1 T C 11: 78,466,007 probably null Het
Slc6a5 T C 7: 49,959,351 I768T probably benign Het
Slco6c1 C T 1: 97,081,316 probably null Het
Taar2 A T 10: 23,940,976 H138L probably benign Het
Taf2 A C 15: 55,058,901 L330R probably damaging Het
Tgm5 T C 2: 121,070,729 probably null Het
Tmed4 A T 11: 6,274,491 Y56* probably null Het
Tmem156 A T 5: 65,075,621 F135L probably benign Het
Ttll6 T C 11: 96,134,887 S65P probably damaging Het
Ttn C T 2: 76,726,827 G28199R probably damaging Het
Ubn2 T A 6: 38,470,224 probably null Het
Unc80 A T 1: 66,473,260 T110S possibly damaging Het
Vmn2r72 A T 7: 85,737,929 V809E probably damaging Het
Zbtb2 A G 10: 4,368,599 F476L probably damaging Het
Zbtb24 T C 10: 41,464,401 F498L probably damaging Het
Zfp280d T A 9: 72,329,137 L494Q probably damaging Het
Zfp281 T C 1: 136,626,726 S481P probably benign Het
Other mutations in Arhgap8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Arhgap8 APN 15 84767214 missense possibly damaging 0.87
IGL01950:Arhgap8 APN 15 84766349 missense probably benign 0.33
IGL02156:Arhgap8 APN 15 84770035 missense possibly damaging 0.87
IGL03102:Arhgap8 APN 15 84766307 splice site probably benign
R3003:Arhgap8 UTSW 15 84771830 missense probably damaging 0.99
R4562:Arhgap8 UTSW 15 84741913 missense probably damaging 0.99
R4866:Arhgap8 UTSW 15 84741904 missense probably damaging 1.00
R4867:Arhgap8 UTSW 15 84740766 missense probably benign 0.17
R5620:Arhgap8 UTSW 15 84756369 missense probably benign 0.09
R5793:Arhgap8 UTSW 15 84772022 missense probably benign
R5905:Arhgap8 UTSW 15 84741977 missense possibly damaging 0.53
R6033:Arhgap8 UTSW 15 84741925 missense probably damaging 1.00
R7212:Arhgap8 UTSW 15 84745792 missense probably null 0.99
R7548:Arhgap8 UTSW 15 84757058 missense possibly damaging 0.76
R7614:Arhgap8 UTSW 15 84757075 missense probably benign 0.44
R7822:Arhgap8 UTSW 15 84765732 missense probably damaging 1.00
Predicted Primers
Posted On2017-06-26