Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Gfm2'

372838

Institutional Source

Beutler Lab

Gene Symbol

Gfm2

Ensembl Gene

ENSMUSG00000021666

Gene Name

G elongation factor, mitochondrial 2

Synonyms

EFG2, MST027, A930009M04Rik, 6530419G12Rik

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97274445-97317703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97301546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 450 (S450P)

Ref Sequence

ENSEMBL: ENSMUSP00000124253 (fasta)

Gene Model

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

AlphaFold

Q8R2Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022170
AA Change: S448P

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

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: S448P

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: S423P

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

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: S423P

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: ENSMUST00000160981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160989

Predicted Effect

probably damaging
Transcript: ENSMUST00000161639
AA Change: S450P

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

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: S450P

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: S450P

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

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: S450P

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: S450P

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

SMART Domains

Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: S450P

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

Meta Mutation Damage Score

0.1982

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,664 (GRCm39)	T755S	probably benign	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dctn1	A	T	6: 83,176,753 (GRCm39)	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,775,751 (GRCm39)	G373D	probably benign	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tll2	T	A	19: 41,118,951 (GRCm39)	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Uba6	T	A	5: 86,279,197 (GRCm39)	I642L	probably benign	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	probably damaging	Het

Other mutations in Gfm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gfm2	APN	13	97,291,950 (GRCm39)	missense	probably benign	0.38
IGL00781:Gfm2	APN	13	97,285,847 (GRCm39)	missense	probably damaging	1.00
IGL00789:Gfm2	APN	13	97,309,566 (GRCm39)	unclassified	probably benign
IGL00978:Gfm2	APN	13	97,299,485 (GRCm39)	missense	probably benign	0.20
IGL01637:Gfm2	APN	13	97,286,917 (GRCm39)	missense	probably damaging	1.00
IGL02318:Gfm2	APN	13	97,299,483 (GRCm39)	missense	probably damaging	1.00
R0825:Gfm2	UTSW	13	97,279,612 (GRCm39)	splice site	probably benign
R1173:Gfm2	UTSW	13	97,301,708 (GRCm39)	splice site	probably null
R1847:Gfm2	UTSW	13	97,299,442 (GRCm39)	missense	probably benign	0.04
R1932:Gfm2	UTSW	13	97,278,475 (GRCm39)	missense	probably damaging	0.96
R2104:Gfm2	UTSW	13	97,308,028 (GRCm39)	missense	probably damaging	0.99
R2108:Gfm2	UTSW	13	97,291,950 (GRCm39)	missense	probably benign	0.38
R2877:Gfm2	UTSW	13	97,289,757 (GRCm39)	missense	possibly damaging	0.80
R2878:Gfm2	UTSW	13	97,289,757 (GRCm39)	missense	possibly damaging	0.80
R2898:Gfm2	UTSW	13	97,309,469 (GRCm39)	missense	possibly damaging	0.85
R3931:Gfm2	UTSW	13	97,311,532 (GRCm39)	missense	probably benign	0.02
R4011:Gfm2	UTSW	13	97,279,608 (GRCm39)	splice site	probably benign
R4921:Gfm2	UTSW	13	97,312,184 (GRCm39)	missense	probably damaging	0.99
R5182:Gfm2	UTSW	13	97,299,401 (GRCm39)	missense	probably damaging	1.00
R5309:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R5310:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R5311:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R5339:Gfm2	UTSW	13	97,311,548 (GRCm39)	missense	probably benign
R5594:Gfm2	UTSW	13	97,301,546 (GRCm39)	missense	probably damaging	1.00
R5599:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R6014:Gfm2	UTSW	13	97,288,169 (GRCm39)	splice site	probably null
R6041:Gfm2	UTSW	13	97,309,131 (GRCm39)	missense	probably benign	0.11
R6108:Gfm2	UTSW	13	97,285,930 (GRCm39)	missense	possibly damaging	0.79
R6345:Gfm2	UTSW	13	97,299,461 (GRCm39)	missense	probably damaging	0.96
R6596:Gfm2	UTSW	13	97,301,657 (GRCm39)	missense	probably damaging	1.00
R6937:Gfm2	UTSW	13	97,299,572 (GRCm39)	splice site	probably null
R6958:Gfm2	UTSW	13	97,282,744 (GRCm39)	missense	probably damaging	1.00
R6996:Gfm2	UTSW	13	97,285,868 (GRCm39)	missense	probably damaging	1.00
R7291:Gfm2	UTSW	13	97,311,532 (GRCm39)	missense	probably benign	0.02
R7365:Gfm2	UTSW	13	97,279,529 (GRCm39)	missense	probably benign	0.06
R7456:Gfm2	UTSW	13	97,282,211 (GRCm39)	nonsense	probably null
R7585:Gfm2	UTSW	13	97,315,540 (GRCm39)	missense	probably benign	0.03
R7597:Gfm2	UTSW	13	97,309,086 (GRCm39)	missense	probably benign	0.00
R7766:Gfm2	UTSW	13	97,286,908 (GRCm39)	missense	probably damaging	1.00
R8290:Gfm2	UTSW	13	97,282,171 (GRCm39)	missense	probably benign	0.00
R8321:Gfm2	UTSW	13	97,299,500 (GRCm39)	missense	possibly damaging	0.80
R8372:Gfm2	UTSW	13	97,301,552 (GRCm39)	missense	possibly damaging	0.94
R8385:Gfm2	UTSW	13	97,301,519 (GRCm39)	missense	probably benign	0.41
R8404:Gfm2	UTSW	13	97,299,485 (GRCm39)	missense	probably benign	0.20
R9003:Gfm2	UTSW	13	97,282,889 (GRCm39)	unclassified	probably benign
R9031:Gfm2	UTSW	13	97,309,201 (GRCm39)	critical splice donor site	probably null
R9115:Gfm2	UTSW	13	97,301,707 (GRCm39)	critical splice donor site	probably null
R9261:Gfm2	UTSW	13	97,299,369 (GRCm39)	nonsense	probably null
R9360:Gfm2	UTSW	13	97,289,752 (GRCm39)	missense	probably damaging	0.98
R9463:Gfm2	UTSW	13	97,286,910 (GRCm39)	missense	probably damaging	1.00
R9575:Gfm2	UTSW	13	97,285,906 (GRCm39)	missense	probably damaging	1.00
Z1177:Gfm2	UTSW	13	97,299,501 (GRCm39)	critical splice donor site	probably null
Z1177:Gfm2	UTSW	13	97,299,500 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGGTCTTACACAGGTTAAATGAGCC -3'
(R):5'- CGCTGAAACTACTTCCCATAGGC -3'

Sequencing Primer
(F):5'- GAGCCTTACATAAAGTGTGAGACTTG -3'
(R):5'- TGAAGAACCAACCCTGCTGG -3'

Posted On

2016-03-01