Incidental Mutation 'IGL01773:Tfam'
ID153724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfam
Ensembl Gene ENSMUSG00000003923
Gene Nametranscription factor A, mitochondrial
SynonymsHmgts, tsHMG, mtTFA
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01773
Quality Score
Status
Chromosome10
Chromosomal Location71225464-71238280 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71236975 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 9 (M9T)
Ref Sequence ENSEMBL: ENSMUSP00000120871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092430] [ENSMUST00000105432] [ENSMUST00000121685] [ENSMUST00000152505]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092430
AA Change: M53T

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090086
Gene: ENSMUSG00000003923
AA Change: M53T

DomainStartEndE-ValueType
HMG 48 118 4.91e-21 SMART
low complexity region 129 148 N/A INTRINSIC
HMG 153 219 4.66e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105432
AA Change: M25T

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101072
Gene: ENSMUSG00000003923
AA Change: M25T

DomainStartEndE-ValueType
HMG 20 90 4.91e-21 SMART
low complexity region 101 120 N/A INTRINSIC
HMG 125 191 4.66e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121685
AA Change: M9T

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113581
Gene: ENSMUSG00000003923
AA Change: M9T

DomainStartEndE-ValueType
HMG 4 74 4.91e-21 SMART
low complexity region 85 104 N/A INTRINSIC
HMG 109 175 4.66e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145220
Predicted Effect possibly damaging
Transcript: ENSMUST00000152505
AA Change: M9T

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120871
Gene: ENSMUSG00000003923
AA Change: M9T

DomainStartEndE-ValueType
HMG 4 74 4.91e-21 SMART
low complexity region 85 104 N/A INTRINSIC
Blast:HMG 109 143 6e-16 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mutants exhibit retarded growth, abnormal somite development, lack of optic discs, cardiac defects and delayed neural development. Mutants die by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Calcrl A G 2: 84,370,443 Y86H probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cpq T A 15: 33,212,850 F5Y probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Pik3c3 T A 18: 30,277,102 F130I probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnaseh2a A T 8: 84,965,138 V136D probably damaging Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Slfn5 A T 11: 82,961,331 E761V probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tmem186 A G 16: 8,635,977 L140P probably damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Tfam
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4142001:Tfam UTSW 10 71234983 missense possibly damaging 0.88
R1462:Tfam UTSW 10 71235550 missense probably damaging 1.00
R1462:Tfam UTSW 10 71235550 missense probably damaging 1.00
R4367:Tfam UTSW 10 71233403 missense probably damaging 1.00
R4675:Tfam UTSW 10 71233395 missense probably benign 0.22
R4684:Tfam UTSW 10 71237847 missense probably benign
Posted On2014-02-04