Incidental Mutation 'IGL00987:Gfm1'
ID27179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfm1
Ensembl Gene ENSMUSG00000027774
Gene NameG elongation factor, mitochondrial 1
SynonymsD3Wsu133e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00987
Quality Score
Status
Chromosome3
Chromosomal Location67430096-67476529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 67438560 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 197 (H197R)
Ref Sequence ENSEMBL: ENSMUSP00000076503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077271]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077271
AA Change: H197R

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: H197R

DomainStartEndE-ValueType
Pfam:GTP_EFTU 45 320 3.5e-65 PFAM
Pfam:GTP_EFTU_D2 366 432 6e-18 PFAM
Pfam:EFG_II 446 520 1.9e-31 PFAM
EFG_IV 522 642 1.64e-47 SMART
EFG_C 644 731 2.16e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161009
SMART Domains Protein: ENSMUSP00000125161
Gene: ENSMUSG00000027774

DomainStartEndE-ValueType
Pfam:GTP_EFTU 45 320 3.4e-63 PFAM
Pfam:GTP_EFTU_D2 366 432 4.1e-18 PFAM
Pfam:EFG_II 446 520 4.4e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 155,295,181 I241T probably benign Het
Atp5g3 T A 2: 73,909,926 R19* probably null Het
Celf4 T C 18: 25,486,950 D420G probably damaging Het
Cideb C A 14: 55,754,560 R179L possibly damaging Het
Cmtr1 G A 17: 29,697,169 R591H probably benign Het
Dync1li2 A T 8: 104,442,498 S34T possibly damaging Het
Eri2 A G 7: 119,791,166 Y80H probably damaging Het
Eya2 A G 2: 165,754,481 E304G probably damaging Het
Fam135a A C 1: 24,055,898 L130V probably damaging Het
Fancb A T X: 164,991,598 K410N probably damaging Het
Gabpb2 A C 3: 95,200,191 V191G probably damaging Het
Gm11595 A G 11: 99,772,539 V105A unknown Het
Hectd3 T A 4: 116,999,643 D462E probably damaging Het
Herc1 G T 9: 66,408,052 V1139L probably benign Het
Itgal T C 7: 127,302,011 F190L probably damaging Het
Krt87 G A 15: 101,438,446 H109Y probably benign Het
Lmf2 T C 15: 89,354,568 Y115C probably benign Het
Papolg T A 11: 23,876,377 Y259F possibly damaging Het
Parn T C 16: 13,667,603 I10V probably benign Het
Pdcd11 T A 19: 47,114,550 probably benign Het
Phldb2 T A 16: 45,763,102 Q1003L possibly damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Pkp4 T C 2: 59,308,357 L317P probably damaging Het
Polr2a T C 11: 69,743,794 probably benign Het
Prdm16 G A 4: 154,341,969 T453M possibly damaging Het
Rnf144b A T 13: 47,207,493 E36D possibly damaging Het
Ryr2 G A 13: 11,735,502 T1961I probably damaging Het
Sash1 T A 10: 8,751,413 K305I probably damaging Het
Tbc1d7 A T 13: 43,159,321 I32N probably damaging Het
Thop1 T C 10: 81,081,695 F623L probably damaging Het
Thsd7b G A 1: 129,613,279 G297R probably damaging Het
Tln1 C A 4: 43,551,297 probably benign Het
Vmn1r183 A G 7: 24,055,224 N151D probably damaging Het
Other mutations in Gfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Gfm1 APN 3 67474753 missense probably damaging 1.00
IGL01397:Gfm1 APN 3 67443658 missense probably benign 0.09
IGL01738:Gfm1 APN 3 67456661 missense probably benign 0.15
IGL02679:Gfm1 APN 3 67474767 missense possibly damaging 0.56
IGL03271:Gfm1 APN 3 67474743 missense probably damaging 1.00
R0389:Gfm1 UTSW 3 67457918 missense probably benign 0.00
R0815:Gfm1 UTSW 3 67474595 missense probably damaging 1.00
R0863:Gfm1 UTSW 3 67474595 missense probably damaging 1.00
R1626:Gfm1 UTSW 3 67438644 missense probably damaging 1.00
R1843:Gfm1 UTSW 3 67435610 missense probably damaging 1.00
R1931:Gfm1 UTSW 3 67456585 missense probably benign 0.44
R2097:Gfm1 UTSW 3 67449746 missense probably damaging 0.97
R2149:Gfm1 UTSW 3 67474560 missense probably damaging 1.00
R2337:Gfm1 UTSW 3 67435514 missense probably damaging 1.00
R3739:Gfm1 UTSW 3 67456700 missense probably damaging 1.00
R4193:Gfm1 UTSW 3 67431720 missense probably damaging 1.00
R4661:Gfm1 UTSW 3 67433398 missense probably damaging 1.00
R5023:Gfm1 UTSW 3 67473544 missense probably damaging 1.00
R5057:Gfm1 UTSW 3 67473544 missense probably damaging 1.00
R5503:Gfm1 UTSW 3 67453727 critical splice donor site probably null
R5692:Gfm1 UTSW 3 67435622 missense probably damaging 1.00
R5771:Gfm1 UTSW 3 67435562 missense probably benign 0.11
R6232:Gfm1 UTSW 3 67467882 missense possibly damaging 0.52
R6234:Gfm1 UTSW 3 67435514 missense probably damaging 1.00
R6514:Gfm1 UTSW 3 67473546 missense probably benign
R6911:Gfm1 UTSW 3 67451303 missense possibly damaging 0.83
R7295:Gfm1 UTSW 3 67440181 missense probably benign 0.30
R7899:Gfm1 UTSW 3 67473527 missense probably benign 0.10
R8321:Gfm1 UTSW 3 67430261 missense probably benign
Posted On2013-04-17