Incidental Mutation 'IGL01678:Ftmt'
ID103712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ftmt
Ensembl Gene ENSMUSG00000024510
Gene Nameferritin mitochondrial
SynonymsMtF, 4930447C24Rik, mitochondrial ferritin, Fth3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01678
Quality Score
Status
Chromosome18
Chromosomal Location52331536-52332986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 52332134 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 174 (H174L)
Ref Sequence ENSEMBL: ENSMUSP00000025388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025388]
Predicted Effect probably damaging
Transcript: ENSMUST00000025388
AA Change: H174L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025388
Gene: ENSMUSG00000024510
AA Change: H174L

DomainStartEndE-ValueType
Pfam:Ferritin 73 214 1.3e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,405,019 M186K probably null Het
Adamts3 T C 5: 89,707,856 N385S probably damaging Het
Adamts6 T C 13: 104,313,688 V299A probably damaging Het
Angel1 T C 12: 86,717,026 E500G probably benign Het
Car9 T C 4: 43,512,941 probably benign Het
Colec11 A G 12: 28,594,868 F209S probably damaging Het
Dock10 A G 1: 80,543,352 Y1179H probably damaging Het
Ece1 T A 4: 137,962,733 W697R probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Flii G T 11: 60,716,846 probably benign Het
Frmpd1 T A 4: 45,243,717 D63E probably damaging Het
Gm438 A T 4: 144,777,873 M236K probably benign Het
Gm960 T A 19: 4,672,165 I76L possibly damaging Het
Gpr37l1 A G 1: 135,167,053 V151A probably damaging Het
Inppl1 T C 7: 101,832,596 T180A probably benign Het
Klhdc4 T C 8: 121,796,938 D513G possibly damaging Het
Klrb1a A G 6: 128,618,448 probably benign Het
Nit1 A G 1: 171,342,694 V270A probably damaging Het
Olfr774 A C 10: 129,238,668 D173A possibly damaging Het
Phox2b T A 5: 67,098,919 Y8F probably damaging Het
Psg20 T A 7: 18,680,870 S364C probably damaging Het
Rab38 T A 7: 88,430,532 V44E probably damaging Het
Rapgef4 T C 2: 72,242,225 probably benign Het
Ror1 C T 4: 100,425,968 P410L possibly damaging Het
Rptn A G 3: 93,396,811 N484D probably benign Het
Sirpb1a G T 3: 15,411,310 S142R probably damaging Het
Smox G A 2: 131,512,059 R17H possibly damaging Het
Trpm7 A T 2: 126,816,799 C1146S probably damaging Het
Upf3a C T 8: 13,791,930 A155V probably benign Het
Vmn1r212 A T 13: 22,883,911 V84D probably damaging Het
Vmn2r40 T C 7: 8,920,106 N419D probably damaging Het
Wdr92 T C 11: 17,232,790 V317A probably benign Het
Zfp143 C A 7: 110,080,351 probably benign Het
Zmat4 T A 8: 23,902,048 C7S probably damaging Het
Other mutations in Ftmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Ftmt APN 18 52332113 missense probably damaging 0.96
IGL02111:Ftmt APN 18 52332053 missense possibly damaging 0.77
IGL02472:Ftmt APN 18 52331840 missense possibly damaging 0.92
IGL02490:Ftmt APN 18 52331688 missense probably benign 0.00
IGL03181:Ftmt APN 18 52331881 missense probably damaging 0.97
R4867:Ftmt UTSW 18 52332053 missense possibly damaging 0.77
R4899:Ftmt UTSW 18 52331586 start gained probably benign
R6238:Ftmt UTSW 18 52332235 missense probably damaging 0.99
R6699:Ftmt UTSW 18 52331665 missense possibly damaging 0.87
R7057:Ftmt UTSW 18 52332108 missense probably benign 0.04
R7270:Ftmt UTSW 18 52332019 missense probably benign 0.10
Posted On2014-01-21