Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Gfm2'

566437

Institutional Source

Beutler Lab

Gene Symbol

Gfm2

Ensembl Gene

ENSMUSG00000021666

Gene Name

G elongation factor, mitochondrial 2

Synonyms

EFG2, MST027, A930009M04Rik, 6530419G12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97137937-97181195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97175024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 701 (V701I)

Ref Sequence

ENSEMBL: ENSMUSP00000048373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022169] [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825]

AlphaFold

Q8R2Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000022169

SMART Domains

Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Glycohydro_20b2	35	157	7.1e-24	PFAM
Pfam:Glyco_hydro_20	179	496	1.2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022170
AA Change: V726I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: V726I

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: V701I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: V701I

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

noncoding transcript
Transcript: ENSMUST00000159321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160989

Predicted Effect

probably benign
Transcript: ENSMUST00000161639
AA Change: V728I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: V728I

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: V728I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: V728I

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

Meta Mutation Damage Score

0.1748

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,553	E51G	possibly damaging	Het
9530053A07Rik	A	C	7: 28,140,220	D486A	probably benign	Het
Abca14	C	A	7: 120,289,609	C1259*	probably null	Het
Ablim1	T	C	19: 57,215,908	E17G	probably benign	Het
Acsf3	G	A	8: 122,813,577	V505I	probably benign	Het
Actn1	T	C	12: 80,174,085	M650V	probably benign	Het
Adamts4	G	A	1: 171,256,528	V525I	probably benign	Het
Adh1	T	C	3: 138,282,808	Y181H	probably damaging	Het
Alpl	G	A	4: 137,752,698	R168W	probably damaging	Het
Ate1	T	G	7: 130,519,931	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,811,091	F314L	probably damaging	Het
Baiap3	T	A	17: 25,244,317	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
C1s2	T	A	6: 124,625,384	I623F	probably benign	Het
Card11	T	C	5: 140,901,070	D308G	probably damaging	Het
Cul9	C	T	17: 46,540,433	V354I	probably benign	Het
Dnah1	A	T	14: 31,298,705	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590	I4266F	possibly damaging	Het
Ear10	A	T	14: 43,922,920	V150D	probably damaging	Het
Elfn2	C	T	15: 78,672,983	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895	H104Q	probably benign	Het
Fcgbp	A	G	7: 28,101,392	N1288D	probably benign	Het
Fcrl1	T	C	3: 87,385,781		probably null	Het
Fmo2	G	T	1: 162,887,702	P117Q	probably benign	Het
Fsip2	A	G	2: 82,980,519	K2394R	possibly damaging	Het
Gab1	T	G	8: 80,800,151	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,351,414	V248A	probably damaging	Het
Gemin6	T	C	17: 80,227,775	S55P	possibly damaging	Het
Gm3250	T	C	10: 77,782,227	T106A	unknown	Het
Gm7356	T	C	17: 14,001,581	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,902,840	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,325,729	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,925,339	L716S	probably damaging	Het
Hecw2	A	G	1: 53,914,594	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,974,815	S151N	probably benign	Het
Il15ra	C	T	2: 11,718,381	T72I	probably damaging	Het
Ints1	A	G	5: 139,765,074	L858P	probably damaging	Het
Kat2a	C	T	11: 100,710,900	V230I	possibly damaging	Het
Kcnq2	A	T	2: 181,088,379	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,679,046	T229I	possibly damaging	Het
Ly75	T	A	2: 60,329,993	I957F	probably damaging	Het
Map3k12	T	A	15: 102,502,166	R459W	probably damaging	Het
Mia2	T	A	12: 59,158,369		probably null	Het
Mrgprf	A	G	7: 145,307,469	I53V	unknown	Het
Mttp	A	G	3: 138,091,203	L846P	probably damaging	Het
Myrip	C	T	9: 120,417,141	L112F	probably damaging	Het
Nav1	A	G	1: 135,465,859	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,759,203	D327G	possibly damaging	Het
Notch1	C	T	2: 26,476,375	V776I	probably benign	Het
Obsl1	G	T	1: 75,489,517	D1522E	probably damaging	Het
Olfr1464-ps1	A	T	19: 13,282,153	F302I	unknown	Het
Olfr605	T	A	7: 103,442,788	M112L	probably benign	Het
Olfr823	T	C	10: 130,112,224	K189E	probably benign	Het
Olfr859	T	C	9: 19,808,648	M110T	possibly damaging	Het
Pde7a	T	C	3: 19,227,674	N471D	probably benign	Het
Pla2r1	T	C	2: 60,530,435	H203R	probably benign	Het
Plch2	C	A	4: 154,998,472	C573F	probably damaging	Het
Polr1a	G	A	6: 71,941,456	R666Q	probably benign	Het
Prepl	T	C	17: 85,081,240	N145S	probably benign	Het
Psen2	C	T	1: 180,238,956	V139M	probably benign	Het
Ptgdr	A	T	14: 44,859,192	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,691,239	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,032,298	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,969,462	M824K	probably benign	Het
Sel1l	T	C	12: 91,848,965	T23A	probably benign	Het
Sele	A	G	1: 164,053,868	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,197,839	N421D	probably damaging	Het
Slc35f3	T	G	8: 126,394,558	L386R	probably benign	Het
Stab2	G	A	10: 86,946,220	S699L	probably damaging	Het
Synrg	A	T	11: 84,009,381	L726F	probably damaging	Het
Syt3	G	A	7: 44,395,919	V528M	probably damaging	Het
Szt2	A	G	4: 118,391,249	I655T	probably damaging	Het
Tbr1	T	C	2: 61,812,256	S622P	probably damaging	Het
Tex36	C	T	7: 133,587,223	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,312,942	W13*	probably null	Het
Trdn	A	T	10: 33,437,736	E500V	probably null	Het
Ugt2b38	A	T	5: 87,411,895	N379K	probably damaging	Het
Unc13d	T	C	11: 116,074,050	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,278,749	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,574,209	I733V	probably benign	Het
Zfp870	T	A	17: 32,883,854	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,549,304	M179L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGCCCTGAAGAAAGCTG -3'
(R):5'- GACCACATTTGAGACACTGTGC -3'

Sequencing Primer
(F):5'- CTGACAAACAGGTGCTGGAACC -3'
(R):5'- GGAAGTAACGTGTTCCCAAGTTCTC -3'

Posted On

2019-06-26