Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Gfm2'

2160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gfm2

Ensembl Gene

ENSMUSG00000021666

Gene Name

G elongation factor, mitochondrial 2

Synonyms

EFG2, MST027, A930009M04Rik, 6530419G12Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.621) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

97137937-97181195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97155442 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000022170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913]

Predicted Effect

probably benign
Transcript: ENSMUST00000022170
AA Change: T229A

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: T229A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	66	349	9.9e-64	PFAM
Pfam:GTP_EFTU_D2	379	446	4.3e-8	PFAM
low complexity region	447	473	N/A	INTRINSIC
Pfam:EFG_II	482	556	3.9e-29	PFAM
EFG_IV	558	677	2.94e-17	SMART
EFG_C	679	766	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042084
AA Change: T231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	324	4.6e-64	PFAM
Pfam:GTP_EFTU_D2	354	421	4.2e-8	PFAM
low complexity region	422	448	N/A	INTRINSIC
Pfam:EFG_II	457	531	3.7e-29	PFAM
EFG_IV	533	652	2.94e-17	SMART
EFG_C	654	741	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160139
AA Change: T233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: T233A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	241	3.5e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160989

Predicted Effect

probably benign
Transcript: ENSMUST00000161639
AA Change: T231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	1.2e-68	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	4.5e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	768	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161825
AA Change: T231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	2.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	1.1e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	7.1e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	738	3.46e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161843

Predicted Effect

probably benign
Transcript: ENSMUST00000161913
AA Change: T231A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	3.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	3.2e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	532	2.1e-13	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, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Gfm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Gfm2	APN	13	97149339	missense	probably damaging	1.00
IGL00789:Gfm2	APN	13	97173058	unclassified	probably benign
IGL00978:Gfm2	APN	13	97162977	missense	probably benign	0.20
IGL01637:Gfm2	APN	13	97150409	missense	probably damaging	1.00
IGL02318:Gfm2	APN	13	97162975	missense	probably damaging	1.00
R0825:Gfm2	UTSW	13	97143104	splice site	probably benign
R1173:Gfm2	UTSW	13	97165200	splice site	probably null
R1847:Gfm2	UTSW	13	97162934	missense	probably benign	0.04
R1932:Gfm2	UTSW	13	97141967	missense	probably damaging	0.96
R2104:Gfm2	UTSW	13	97171520	missense	probably damaging	0.99
R2108:Gfm2	UTSW	13	97155442	missense	probably benign	0.38
R2877:Gfm2	UTSW	13	97153249	missense	possibly damaging	0.80
R2878:Gfm2	UTSW	13	97153249	missense	possibly damaging	0.80
R2898:Gfm2	UTSW	13	97172961	missense	possibly damaging	0.85
R3931:Gfm2	UTSW	13	97175024	missense	probably benign	0.02
R4011:Gfm2	UTSW	13	97143100	splice site	probably benign
R4831:Gfm2	UTSW	13	97165038	missense	probably damaging	1.00
R4921:Gfm2	UTSW	13	97175676	missense	probably damaging	0.99
R5182:Gfm2	UTSW	13	97162893	missense	probably damaging	1.00
R5309:Gfm2	UTSW	13	97163151	missense	probably damaging	1.00
R5310:Gfm2	UTSW	13	97163151	missense	probably damaging	1.00
R5311:Gfm2	UTSW	13	97163151	missense	probably damaging	1.00
R5339:Gfm2	UTSW	13	97175040	missense	probably benign
R5594:Gfm2	UTSW	13	97165038	missense	probably damaging	1.00
R5599:Gfm2	UTSW	13	97163151	missense	probably damaging	1.00
R6014:Gfm2	UTSW	13	97151661	splice site	probably null
R6041:Gfm2	UTSW	13	97172623	missense	probably benign	0.11
R6108:Gfm2	UTSW	13	97149422	missense	possibly damaging	0.79
R6345:Gfm2	UTSW	13	97162953	missense	probably damaging	0.96
R6596:Gfm2	UTSW	13	97165149	missense	probably damaging	1.00
R6937:Gfm2	UTSW	13	97163064	splice site	probably null
R6958:Gfm2	UTSW	13	97146236	missense	probably damaging	1.00
R6996:Gfm2	UTSW	13	97149360	missense	probably damaging	1.00
R7291:Gfm2	UTSW	13	97175024	missense	probably benign	0.02
R7365:Gfm2	UTSW	13	97143021	missense	probably benign	0.06
R7456:Gfm2	UTSW	13	97145703	nonsense	probably null
R7585:Gfm2	UTSW	13	97179032	missense	probably benign	0.03
R7597:Gfm2	UTSW	13	97172578	missense	probably benign	0.00
R7766:Gfm2	UTSW	13	97150400	missense	probably damaging	1.00
R8290:Gfm2	UTSW	13	97145663	missense	probably benign	0.00
R8321:Gfm2	UTSW	13	97162992	missense	possibly damaging	0.80
R8372:Gfm2	UTSW	13	97165044	missense	possibly damaging	0.94
R8385:Gfm2	UTSW	13	97165011	missense	probably benign	0.41
R8404:Gfm2	UTSW	13	97162977	missense	probably benign	0.20
Z1177:Gfm2	UTSW	13	97162992	missense	possibly damaging	0.93
Z1177:Gfm2	UTSW	13	97162993	critical splice donor site	probably null

Posted On

2011-12-09