Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Gfm2'

93073

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

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

97137937-97181195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97150409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 172 (V172E)

Ref Sequence

ENSEMBL: ENSMUSP00000124253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913] [ENSMUST00000161929]

AlphaFold

Q8R2Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022170
AA Change: V170E

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

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: V170E

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 damaging
Transcript: ENSMUST00000042084
AA Change: V172E

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

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: V172E

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 damaging
Transcript: ENSMUST00000160139
AA Change: V172E

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

SMART Domains

Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: V172E

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

Predicted Effect

unknown
Transcript: ENSMUST00000160981
AA Change: V20E

Predicted Effect

probably damaging
Transcript: ENSMUST00000161639
AA Change: V172E

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

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: V172E

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 damaging
Transcript: ENSMUST00000161825
AA Change: V172E

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

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: V172E

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 damaging
Transcript: ENSMUST00000161913
AA Change: V172E

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

SMART Domains

Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: V172E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161929

SMART Domains

Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	94	1.2e-9	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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Gfm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gfm2	APN	13	97155442	missense	probably benign	0.38
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
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
R9003:Gfm2	UTSW	13	97146381	unclassified	probably benign
R9031:Gfm2	UTSW	13	97172693	critical splice donor site	probably null
R9115:Gfm2	UTSW	13	97165199	critical splice donor site	probably null
R9261:Gfm2	UTSW	13	97162861	nonsense	probably null
R9360:Gfm2	UTSW	13	97153244	missense	probably damaging	0.98
R9463:Gfm2	UTSW	13	97150402	missense	probably damaging	1.00
R9575:Gfm2	UTSW	13	97149398	missense	probably damaging	1.00
Z1177:Gfm2	UTSW	13	97162992	missense	possibly damaging	0.93
Z1177:Gfm2	UTSW	13	97162993	critical splice donor site	probably null

Posted On

2013-12-09