Incidental Mutation 'IGL01654:Gm4847'
ID102913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4847
Ensembl Gene ENSMUSG00000051081
Gene Namepredicted gene 4847
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01654
Quality Score
Status
Chromosome1
Chromosomal Location166628971-166647693 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 166638348 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 224 (R224Q)
Ref Sequence ENSEMBL: ENSMUSP00000039839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046662]
Predicted Effect probably damaging
Transcript: ENSMUST00000046662
AA Change: R224Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: R224Q

DomainStartEndE-ValueType
Pfam:FMO-like 3 533 1.4e-235 PFAM
Pfam:Pyr_redox_2 4 241 5.2e-11 PFAM
Pfam:Pyr_redox_3 7 221 6.7e-15 PFAM
Pfam:NAD_binding_8 8 92 1.6e-7 PFAM
Pfam:K_oxygenase 77 333 5.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,953,340 E68V probably damaging Het
Abcb1a T C 5: 8,715,065 probably null Het
Abcg2 T A 6: 58,683,321 probably null Het
Adgrf5 T C 17: 43,451,170 I1252T possibly damaging Het
Apol10b A T 15: 77,588,796 D19E probably benign Het
Bbs9 T A 9: 22,490,942 probably null Het
Bod1l T C 5: 41,818,176 T1932A probably damaging Het
C2cd5 A G 6: 143,081,407 V124A probably benign Het
Cd151 T A 7: 141,470,362 I170N probably benign Het
Ckap5 C T 2: 91,577,609 H827Y probably benign Het
Clk3 C T 9: 57,751,763 V572M probably damaging Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Enpp5 A G 17: 44,081,175 D165G possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Fbxw14 T C 9: 109,286,580 probably benign Het
Fes C T 7: 80,386,810 probably null Het
Gemin4 A T 11: 76,213,398 L179H probably damaging Het
Gm3327 A G 14: 44,124,860 E72G unknown Het
Lonp2 T C 8: 86,714,086 V357A probably damaging Het
Mc2r A G 18: 68,408,072 I50T probably benign Het
Mmp19 C T 10: 128,798,520 A310V probably damaging Het
Naip6 C T 13: 100,299,345 R890Q probably benign Het
Npdc1 T C 2: 25,407,637 S101P possibly damaging Het
Phldb1 T C 9: 44,718,357 probably null Het
Pkd2l1 T C 19: 44,154,223 N460S probably damaging Het
Pnpo A G 11: 96,943,729 probably null Het
Prkcq A T 2: 11,283,843 T536S probably damaging Het
Rft1 T A 14: 30,676,880 V269E probably damaging Het
Skint4 A T 4: 112,120,057 I215F probably damaging Het
Slc12a5 G A 2: 164,973,755 D41N possibly damaging Het
Srp68 T C 11: 116,247,812 probably benign Het
Wdr17 T C 8: 54,662,879 T623A probably damaging Het
Zfand2a A G 5: 139,482,068 probably benign Het
Zfp644 T C 5: 106,635,930 Y917C probably damaging Het
Zmym6 C T 4: 127,123,726 S1008L probably damaging Het
Other mutations in Gm4847
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Gm4847 APN 1 166630392 missense possibly damaging 0.55
IGL00943:Gm4847 APN 1 166642353 missense probably benign 0.01
IGL00948:Gm4847 APN 1 166630338 missense probably benign 0.01
IGL01146:Gm4847 APN 1 166634952 missense probably damaging 1.00
IGL01345:Gm4847 APN 1 166634972 missense probably damaging 1.00
IGL01817:Gm4847 APN 1 166634902 missense probably damaging 1.00
IGL02028:Gm4847 APN 1 166642196 missense probably benign 0.23
IGL02031:Gm4847 APN 1 166635009 missense probably damaging 1.00
IGL02412:Gm4847 APN 1 166641738 missense probably damaging 0.98
IGL03278:Gm4847 APN 1 166635036 missense probably benign 0.06
R0009:Gm4847 UTSW 1 166630486 missense probably benign 0.00
R0009:Gm4847 UTSW 1 166630486 missense probably benign 0.00
R0121:Gm4847 UTSW 1 166642288 missense probably damaging 1.00
R0492:Gm4847 UTSW 1 166630392 missense probably damaging 1.00
R0973:Gm4847 UTSW 1 166630255 missense probably benign 0.07
R1136:Gm4847 UTSW 1 166630366 missense probably damaging 0.98
R1522:Gm4847 UTSW 1 166641650 missense probably damaging 1.00
R1730:Gm4847 UTSW 1 166638339 missense possibly damaging 0.80
R1818:Gm4847 UTSW 1 166638219 missense probably damaging 1.00
R1819:Gm4847 UTSW 1 166638219 missense probably damaging 1.00
R2145:Gm4847 UTSW 1 166634903 missense probably benign 0.00
R4628:Gm4847 UTSW 1 166630395 missense probably damaging 1.00
R4850:Gm4847 UTSW 1 166642339 missense probably damaging 1.00
R5065:Gm4847 UTSW 1 166634790 missense probably damaging 0.99
R5068:Gm4847 UTSW 1 166638384 missense possibly damaging 0.81
R5493:Gm4847 UTSW 1 166630321 missense probably damaging 1.00
R5500:Gm4847 UTSW 1 166635042 missense probably damaging 1.00
R5990:Gm4847 UTSW 1 166643373 missense probably benign 0.00
R6018:Gm4847 UTSW 1 166643448 missense probably damaging 1.00
R6178:Gm4847 UTSW 1 166642336 missense probably damaging 1.00
R6190:Gm4847 UTSW 1 166630323 missense probably damaging 0.98
R6220:Gm4847 UTSW 1 166634972 missense probably damaging 1.00
R6654:Gm4847 UTSW 1 166630387 missense probably damaging 1.00
X0018:Gm4847 UTSW 1 166634950 missense probably benign 0.24
X0024:Gm4847 UTSW 1 166632715 missense possibly damaging 0.87
Posted On2014-01-21