Incidental Mutation 'IGL02031:Gm4847'
ID184362
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 #IGL02031
Quality Score
Status
Chromosome1
Chromosomal Location166628971-166647693 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 166635009 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000039839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046662]
Predicted Effect probably damaging
Transcript: ENSMUST00000046662
AA Change: V304A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: V304A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,179,769 F230S probably damaging Het
4931408C20Rik A G 1: 26,685,023 Y359H probably damaging Het
Aipl1 T C 11: 72,030,202 probably benign Het
Akap11 T C 14: 78,513,813 D378G possibly damaging Het
Ankrd33b A T 15: 31,325,183 F129L probably damaging Het
Apob A G 12: 8,015,222 K4064E probably benign Het
Arhgef10l T C 4: 140,575,345 D506G probably damaging Het
Arid4b A C 13: 14,153,412 probably benign Het
Ccdc88c A T 12: 100,933,311 Y1263N probably damaging Het
Ckap5 T C 2: 91,612,772 L1697P possibly damaging Het
Cpxm1 C T 2: 130,393,681 V464M probably damaging Het
Dhrs7c A G 11: 67,815,889 E291G probably benign Het
Dst C A 1: 34,189,917 P1872H possibly damaging Het
G6pc2 G A 2: 69,222,991 A130T probably benign Het
Gm8267 T C 14: 44,717,917 D155G possibly damaging Het
Kank1 G A 19: 25,410,702 V580I probably benign Het
Kcnh4 A G 11: 100,745,823 S757P probably damaging Het
Krt34 C A 11: 100,039,023 A216S possibly damaging Het
Mfhas1 A T 8: 35,589,372 I334F probably damaging Het
Mrgprb8 A G 7: 48,389,339 M253V probably benign Het
Olfr503 A T 7: 108,544,930 H133L probably benign Het
Pp2d1 T A 17: 53,508,440 T419S probably damaging Het
Pprc1 T A 19: 46,072,343 probably benign Het
Reln A G 5: 21,979,016 S1662P probably damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Serinc2 C T 4: 130,264,444 W15* probably null Het
Serpina3k A G 12: 104,345,266 T368A probably benign Het
Setd3 A T 12: 108,163,030 W54R probably damaging Het
Slc9c1 G A 16: 45,599,470 S1001N probably benign Het
Snapc3 A G 4: 83,417,976 D75G probably benign Het
Stard9 T C 2: 120,702,339 S333P probably benign Het
Utrn T C 10: 12,735,204 D469G 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
IGL01654:Gm4847 APN 1 166638348 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
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 On2014-05-07