Incidental Mutation 'IGL00726:Gm4847'
ID 11006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4847
Ensembl Gene ENSMUSG00000051081
Gene Name predicted gene 4847
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL00726
Quality Score
Status
Chromosome 1
Chromosomal Location 166456540-166475262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 166457961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 464 (F464Y)
Ref Sequence ENSEMBL: ENSMUSP00000039839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046662]
AlphaFold G3X946
Predicted Effect possibly damaging
Transcript: ENSMUST00000046662
AA Change: F464Y

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: F464Y

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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cul9 T A 17: 46,839,022 (GRCm39) N871I probably damaging Het
Dock4 T A 12: 40,840,067 (GRCm39) probably benign Het
Eloa T C 4: 135,738,076 (GRCm39) K295E probably benign Het
Fam185a T A 5: 21,685,340 (GRCm39) N345K probably damaging Het
Hmcn1 A G 1: 150,682,117 (GRCm39) probably null Het
Hnrnpa1 A G 15: 103,150,864 (GRCm39) D214G probably benign Het
Il5ra T A 6: 106,715,450 (GRCm39) N128I probably damaging Het
Ppp1r3a A G 6: 14,717,851 (GRCm39) V1021A probably benign Het
Tnik A G 3: 28,587,047 (GRCm39) E106G probably damaging Het
Ttn T G 2: 76,565,069 (GRCm39) D20059A probably damaging Het
Zfp276 T C 8: 123,985,076 (GRCm39) S345P probably benign Het
Other mutations in Gm4847
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Gm4847 APN 1 166,469,922 (GRCm39) missense probably benign 0.01
IGL00948:Gm4847 APN 1 166,457,907 (GRCm39) missense probably benign 0.01
IGL01146:Gm4847 APN 1 166,462,521 (GRCm39) missense probably damaging 1.00
IGL01345:Gm4847 APN 1 166,462,541 (GRCm39) missense probably damaging 1.00
IGL01654:Gm4847 APN 1 166,465,917 (GRCm39) missense probably damaging 1.00
IGL01817:Gm4847 APN 1 166,462,471 (GRCm39) missense probably damaging 1.00
IGL02028:Gm4847 APN 1 166,469,765 (GRCm39) missense probably benign 0.23
IGL02031:Gm4847 APN 1 166,462,578 (GRCm39) missense probably damaging 1.00
IGL02412:Gm4847 APN 1 166,469,307 (GRCm39) missense probably damaging 0.98
IGL03278:Gm4847 APN 1 166,462,605 (GRCm39) missense probably benign 0.06
Disturbance UTSW 1 166,467,677 (GRCm39) missense probably damaging 1.00
ruckus UTSW 1 166,457,824 (GRCm39) missense probably benign 0.07
PIT4494001:Gm4847 UTSW 1 166,467,587 (GRCm39) missense probably damaging 1.00
R0009:Gm4847 UTSW 1 166,458,055 (GRCm39) missense probably benign 0.00
R0009:Gm4847 UTSW 1 166,458,055 (GRCm39) missense probably benign 0.00
R0121:Gm4847 UTSW 1 166,469,857 (GRCm39) missense probably damaging 1.00
R0492:Gm4847 UTSW 1 166,457,961 (GRCm39) missense probably damaging 1.00
R0973:Gm4847 UTSW 1 166,457,824 (GRCm39) missense probably benign 0.07
R1136:Gm4847 UTSW 1 166,457,935 (GRCm39) missense probably damaging 0.98
R1522:Gm4847 UTSW 1 166,469,219 (GRCm39) missense probably damaging 1.00
R1730:Gm4847 UTSW 1 166,465,908 (GRCm39) missense possibly damaging 0.80
R1818:Gm4847 UTSW 1 166,465,788 (GRCm39) missense probably damaging 1.00
R1819:Gm4847 UTSW 1 166,465,788 (GRCm39) missense probably damaging 1.00
R2145:Gm4847 UTSW 1 166,462,472 (GRCm39) missense probably benign 0.00
R4628:Gm4847 UTSW 1 166,457,964 (GRCm39) missense probably damaging 1.00
R4850:Gm4847 UTSW 1 166,469,908 (GRCm39) missense probably damaging 1.00
R5065:Gm4847 UTSW 1 166,462,359 (GRCm39) missense probably damaging 0.99
R5068:Gm4847 UTSW 1 166,465,953 (GRCm39) missense possibly damaging 0.81
R5493:Gm4847 UTSW 1 166,457,890 (GRCm39) missense probably damaging 1.00
R5500:Gm4847 UTSW 1 166,462,611 (GRCm39) missense probably damaging 1.00
R5990:Gm4847 UTSW 1 166,470,942 (GRCm39) missense probably benign 0.00
R6018:Gm4847 UTSW 1 166,471,017 (GRCm39) missense probably damaging 1.00
R6178:Gm4847 UTSW 1 166,469,905 (GRCm39) missense probably damaging 1.00
R6190:Gm4847 UTSW 1 166,457,892 (GRCm39) missense probably damaging 0.98
R6220:Gm4847 UTSW 1 166,462,541 (GRCm39) missense probably damaging 1.00
R6654:Gm4847 UTSW 1 166,457,956 (GRCm39) missense probably damaging 1.00
R7634:Gm4847 UTSW 1 166,460,249 (GRCm39) missense probably benign
R7796:Gm4847 UTSW 1 166,469,819 (GRCm39) missense probably damaging 0.96
R7856:Gm4847 UTSW 1 166,462,395 (GRCm39) missense probably damaging 1.00
R7877:Gm4847 UTSW 1 166,467,575 (GRCm39) missense possibly damaging 0.48
R8130:Gm4847 UTSW 1 166,465,917 (GRCm39) missense probably damaging 1.00
R8361:Gm4847 UTSW 1 166,469,839 (GRCm39) missense possibly damaging 0.69
R8496:Gm4847 UTSW 1 166,469,761 (GRCm39) missense possibly damaging 0.84
R8935:Gm4847 UTSW 1 166,469,789 (GRCm39) missense probably damaging 1.00
R9023:Gm4847 UTSW 1 166,469,332 (GRCm39) missense probably damaging 1.00
R9055:Gm4847 UTSW 1 166,467,677 (GRCm39) missense probably damaging 1.00
R9310:Gm4847 UTSW 1 166,460,281 (GRCm39) missense probably benign
R9513:Gm4847 UTSW 1 166,462,541 (GRCm39) missense probably damaging 1.00
R9653:Gm4847 UTSW 1 166,467,582 (GRCm39) missense possibly damaging 0.92
X0018:Gm4847 UTSW 1 166,462,519 (GRCm39) missense probably benign 0.24
X0024:Gm4847 UTSW 1 166,460,284 (GRCm39) missense possibly damaging 0.87
Z1177:Gm4847 UTSW 1 166,462,342 (GRCm39) missense probably damaging 0.98
Posted On 2012-12-06