Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01397:Gfm1'

79499

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 #

IGL01397

Quality Score

Status

Chromosome

Chromosomal Location

67430096-67476529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67443658 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 316 (E316G)

Ref Sequence

ENSEMBL: ENSMUSP00000076503 (fasta)

Gene Model

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

AlphaFold

Q8K0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000077271
AA Change: E316G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: E316G

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: ENSMUST00000161009

SMART Domains

Protein: ENSMUSP00000125161
Gene: ENSMUSG00000027774

Domain	Start	End	E-Value	Type
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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	C	2: 128,034,891	T436P	possibly damaging	Het
Afap1	T	A	5: 35,968,708	V349E	probably damaging	Het
Arfgef1	C	T	1: 10,159,571	V1302I	probably benign	Het
Atp11a	T	A	8: 12,812,321	W58R	probably damaging	Het
Brpf3	A	T	17: 28,817,632	K670N	probably benign	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cenpp	T	C	13: 49,641,283	D136G	probably damaging	Het
Cep85	T	C	4: 134,156,206	E124G	probably damaging	Het
Crybb3	T	C	5: 113,079,835	E40G	probably damaging	Het
Dennd2d	G	T	3: 106,487,049		probably null	Het
Dhx34	A	G	7: 16,210,543	L582P	probably damaging	Het
Dst	A	G	1: 34,257,744	K5738R	probably damaging	Het
Eif4g1	T	A	16: 20,679,675	L328Q	probably damaging	Het
Eya4	T	C	10: 23,139,999	K357E	probably benign	Het
F8	A	G	X: 75,379,539	S25P	probably benign	Het
Fam122b	G	A	X: 53,260,211	T121I	probably damaging	Het
Fgd2	A	G	17: 29,367,975	E293G	probably damaging	Het
Foxi1	T	A	11: 34,207,599	Q142L	probably damaging	Het
Glb1l3	C	T	9: 26,825,195	D524N	probably benign	Het
Heatr5a	A	T	12: 51,894,369	V1366D	possibly damaging	Het
Idh1	T	C	1: 65,168,595	T142A	possibly damaging	Het
Lamc1	C	A	1: 153,251,134	G422V	probably damaging	Het
Lars	A	T	18: 42,228,029	H691Q	probably damaging	Het
Ltbp2	T	C	12: 84,790,268	Y1259C	probably damaging	Het
Muc19	T	A	15: 91,894,304		noncoding transcript	Het
Nphs1	A	G	7: 30,486,664	D1240G	probably benign	Het
Olfr1134	A	T	2: 87,656,905	N5K	probably damaging	Het
Olfr401	T	A	11: 74,121,764	N158K	probably damaging	Het
Parp14	T	C	16: 35,858,728	N290S	probably benign	Het
Pex5l	G	A	3: 32,952,597	T541I	probably damaging	Het
Plch1	A	C	3: 63,731,729		probably null	Het
Ppp4r3b	C	T	11: 29,213,594	A722V	probably benign	Het
Ptges3	T	C	10: 128,070,200	S85P	probably benign	Het
R3hdm2	C	T	10: 127,458,850	R201W	probably damaging	Het
Rcan2	C	A	17: 43,836,468	Q66K	possibly damaging	Het
Skint4	A	G	4: 112,120,010	N199S	possibly damaging	Het
Smc4	A	G	3: 69,031,544	T951A	probably benign	Het
Smg1	A	T	7: 118,163,221		probably benign	Het
Snx30	T	C	4: 59,894,526	V368A	probably benign	Het
Spata31d1a	C	T	13: 59,701,738	A859T	probably damaging	Het
Tg	G	A	15: 66,696,092		probably benign	Het
Tmem132b	T	C	5: 125,698,728	V422A	probably benign	Het
Tnxb	T	C	17: 34,714,673	S2356P	probably damaging	Het
Vmn1r122	A	G	7: 21,133,782	V116A	possibly damaging	Het
Washc2	A	G	6: 116,247,998	D683G	probably benign	Het
Wdr35	C	A	12: 9,008,550	T580K	probably benign	Het
Wwc2	T	A	8: 47,868,276	N601I	unknown	Het

Other mutations in Gfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Gfm1	APN	3	67438560	missense	possibly damaging	0.79
IGL01377:Gfm1	APN	3	67474753	missense	probably damaging	1.00
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