Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01377:Gfm1'

78781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfm1

Ensembl Gene

ENSMUSG00000027774

Gene Name

G elongation factor, mitochondrial 1

Synonyms

D3Wsu133e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01377

Quality Score

Status

Chromosome

Chromosomal Location

67430096-67476529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67474753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 720 (Y720F)

Ref Sequence

ENSEMBL: ENSMUSP00000076503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054825] [ENSMUST00000077271]

AlphaFold

Q8K0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000054825

SMART Domains

Protein: ENSMUSP00000056728
Gene: ENSMUSG00000049404

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC
Pfam:Latexin	81	299	8e-103	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000077271
AA Change: Y720F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: Y720F

Domain	Start	End	E-Value	Type
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: ENSMUST00000160529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195639

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,973,452		probably null	Het
A530064D06Rik	A	T	17: 48,152,940	V196D	probably damaging	Het
Ago1	C	T	4: 126,459,817	V279M	probably damaging	Het
Ccdc170	A	G	10: 4,560,966	D675G	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,143	Y291N	probably damaging	Het
Cdca5	T	C	19: 6,090,282	S158P	probably damaging	Het
Cdh8	A	G	8: 99,033,389	I576T	probably damaging	Het
Cpsf2	T	A	12: 101,987,381		probably null	Het
Cyc1	C	T	15: 76,344,962	R143*	probably null	Het
Dcaf6	A	T	1: 165,388,724	S437T	probably benign	Het
Eif5b	A	G	1: 38,036,098	D552G	probably benign	Het
Epor	T	C	9: 21,959,297	D429G	probably damaging	Het
Farp2	A	G	1: 93,603,459	I560V	possibly damaging	Het
Fbxw21	T	A	9: 109,146,645	R228*	probably null	Het
Fyb	T	C	15: 6,580,320	S125P	probably benign	Het
Hspbap1	T	A	16: 35,825,311	D455E	possibly damaging	Het
Katnal2	T	C	18: 77,002,457	R285G	probably damaging	Het
Kif12	G	A	4: 63,170,725	T153I	probably damaging	Het
Klhl31	T	C	9: 77,650,731	F243S	probably benign	Het
Large2	A	G	2: 92,369,331	Y208H	probably damaging	Het
Lrp1b	A	G	2: 40,601,538	V239A	probably damaging	Het
Mblac2	G	A	13: 81,750,147	R214H	probably damaging	Het
Mlf2	A	G	6: 124,934,691	N168D	probably damaging	Het
Mtmr6	T	A	14: 60,282,034	Y134*	probably null	Het
Mtus1	T	C	8: 41,083,135	K515E	possibly damaging	Het
Nek1	A	G	8: 61,089,456	T718A	probably benign	Het
Nfx1	A	G	4: 40,977,241	N305S	probably benign	Het
Nrxn3	T	A	12: 89,533,012		probably null	Het
Nsf	T	C	11: 103,872,647	D377G	probably damaging	Het
Pde4b	A	G	4: 102,487,402	E102G	probably damaging	Het
Pdlim4	G	T	11: 54,056,304	S56R	probably benign	Het
Poc5	T	C	13: 96,401,631	V268A	probably benign	Het
Sec23b	A	C	2: 144,559,237	E6A	probably damaging	Het
Sgsm1	A	T	5: 113,276,182		probably benign	Het
Slc16a12	T	A	19: 34,672,684	N317I	possibly damaging	Het
Slc1a7	A	T	4: 107,992,965	D91V	probably damaging	Het
Slc30a9	T	G	5: 67,315,830	S86A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tacr1	T	C	6: 82,403,655	S16P	probably benign	Het
Tmtc1	A	C	6: 148,245,787	V804G	possibly damaging	Het
Ttc7b	A	G	12: 100,355,112	F587L	probably benign	Het
Vmn2r86	A	T	10: 130,452,986	D215E	probably damaging	Het

Other mutations in Gfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Gfm1	APN	3	67438560	missense	possibly damaging	0.79
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
R8465:Gfm1	UTSW	3	67431699	missense	probably damaging	1.00
R8473:Gfm1	UTSW	3	67453718	missense	possibly damaging	0.71

Posted On

2013-11-05