Mutagenetix > Incidental Mutation

Incidental Mutation 'R7585:Gfm2'

587088

Institutional Source

Beutler Lab

Gene Symbol

Gfm2

Ensembl Gene

ENSMUSG00000021666

Gene Name

G elongation factor, mitochondrial 2

Synonyms

EFG2, MST027, A930009M04Rik, 6530419G12Rik

MMRRC Submission

045635-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R7585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97274445-97317703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97315540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 736 (L736P)

Ref Sequence

ENSEMBL: ENSMUSP00000125088 (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

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666

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

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666

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: ENSMUST00000161639

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666

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: L736P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: L736P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,854,851 (GRCm39)	T64A	probably benign	Het
A930009A15Rik	T	A	10: 115,414,230 (GRCm39)	V52D	unknown	Het
Aadacl2fm2	C	A	3: 59,651,143 (GRCm39)	D88E	possibly damaging	Het
Acacb	A	G	5: 114,384,073 (GRCm39)	I2201V	probably damaging	Het
Aco2	A	C	15: 81,756,685 (GRCm39)		probably benign	Het
Acod1	C	T	14: 103,292,177 (GRCm39)	Q234*	probably null	Het
Actr6	T	C	10: 89,561,658 (GRCm39)	S163G	probably benign	Het
Agmat	T	C	4: 141,477,056 (GRCm39)	V154A	probably benign	Het
Agrn	T	C	4: 156,255,131 (GRCm39)	N1584S	probably benign	Het
Alg6	A	T	4: 99,626,371 (GRCm39)	S60C	probably damaging	Het
Ap5s1	T	C	2: 131,054,482 (GRCm39)	F98L	probably damaging	Het
Atp6v1f	G	A	6: 29,467,927 (GRCm39)	V38I	possibly damaging	Het
B3gnt3	T	C	8: 72,145,972 (GRCm39)	T186A	probably damaging	Het
Brpf1	T	C	6: 113,292,007 (GRCm39)	V351A	possibly damaging	Het
Cacna1g	A	G	11: 94,364,368 (GRCm39)	S26P	probably benign	Het
Camta1	G	A	4: 151,229,287 (GRCm39)	S515L	probably damaging	Het
Ccdc122	C	A	14: 77,329,139 (GRCm39)	A64E	probably damaging	Het
Ccdc89	C	A	7: 90,076,510 (GRCm39)	T240K	possibly damaging	Het
Cercam	T	C	2: 29,771,743 (GRCm39)	L521P	probably damaging	Het
Cfb	T	C	17: 35,076,737 (GRCm39)	N561S	probably benign	Het
Clk3	T	C	9: 57,669,119 (GRCm39)	E159G	probably damaging	Het
Cntf	A	T	19: 12,741,587 (GRCm39)	L91*	probably null	Het
Cntn4	T	A	6: 106,466,572 (GRCm39)	I158N	probably damaging	Het
Cog5	T	A	12: 31,810,888 (GRCm39)	I194K	probably damaging	Het
Col22a1	T	A	15: 71,764,054 (GRCm39)	D66V	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csmd3	T	C	15: 48,485,471 (GRCm39)	T145A	possibly damaging	Het
D130043K22Rik	A	G	13: 25,069,568 (GRCm39)	I876V	probably benign	Het
Dlec1	T	C	9: 118,971,819 (GRCm39)	S1335P	probably benign	Het
Dnah5	A	T	15: 28,402,014 (GRCm39)	T3392S	probably benign	Het
Dnal1	A	G	12: 84,171,267 (GRCm39)	K21E	probably benign	Het
Dspp	T	C	5: 104,323,391 (GRCm39)	V178A	possibly damaging	Het
Dst	A	G	1: 34,153,096 (GRCm39)	D119G	possibly damaging	Het
Dyrk4	T	A	6: 126,867,007 (GRCm39)	I342F	probably damaging	Het
Eif3b	A	G	5: 140,425,757 (GRCm39)	D649G	probably damaging	Het
Exoc7	T	C	11: 116,191,124 (GRCm39)	D259G	probably benign	Het
Fancm	T	C	12: 65,153,021 (GRCm39)	V1159A	possibly damaging	Het
Fat3	T	C	9: 15,909,558 (GRCm39)	D2148G	probably benign	Het
Fdps	C	A	3: 89,001,113 (GRCm39)	R300L	probably benign	Het
Grin2b	T	A	6: 135,756,301 (GRCm39)	T475S	probably damaging	Het
H2-M3	T	G	17: 37,581,599 (GRCm39)	L87R	probably damaging	Het
Hao1	T	A	2: 134,343,076 (GRCm39)	I272F	probably damaging	Het
Hapln2	C	T	3: 87,929,980 (GRCm39)	G299S	probably damaging	Het
Hdac3	A	T	18: 38,078,408 (GRCm39)	I154N	probably damaging	Het
Herc1	A	G	9: 66,352,829 (GRCm39)	D2105G	probably damaging	Het
Kcna2	T	C	3: 107,012,658 (GRCm39)	F413S	probably damaging	Het
Kctd13	A	G	7: 126,528,458 (GRCm39)	T78A	possibly damaging	Het
Kif20a	A	G	18: 34,758,591 (GRCm39)	D20G	probably benign	Het
Kif26b	A	T	1: 178,744,061 (GRCm39)	I1386F	probably benign	Het
Klc4	T	A	17: 46,942,810 (GRCm39)	M585L	probably benign	Het
Lrp4	A	G	2: 91,322,933 (GRCm39)	Y1139C	probably damaging	Het
Lrp5	A	T	19: 3,654,094 (GRCm39)	I1111N	possibly damaging	Het
Lrriq1	A	T	10: 103,050,807 (GRCm39)	D648E	possibly damaging	Het
Mmp2	G	A	8: 93,563,564 (GRCm39)	G346D	probably damaging	Het
Mrgpra4	T	A	7: 47,631,377 (GRCm39)	I75L	probably benign	Het
Muc4	T	A	16: 32,586,076 (GRCm39)	V537D		Het
Myh2	T	A	11: 67,070,237 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,194,091 (GRCm39)	T487A	probably damaging	Het
Nalcn	A	T	14: 123,753,050 (GRCm39)	L312H	probably damaging	Het
Nop14	G	A	5: 34,802,124 (GRCm39)	P560L	probably damaging	Het
Nufip1	C	G	14: 76,348,427 (GRCm39)	P19A	probably benign	Het
Oosp3	G	T	19: 11,678,322 (GRCm39)	M99I	probably benign	Het
Or14c40	T	C	7: 86,313,880 (GRCm39)	*337Q	probably null	Het
Or4c52	A	T	2: 89,845,393 (GRCm39)	I40F	probably damaging	Het
Or4x13	T	A	2: 90,231,367 (GRCm39)	Y121N	probably damaging	Het
Or51aa5	C	A	7: 103,167,166 (GRCm39)	V142L	possibly damaging	Het
Or51k2	A	G	7: 103,596,607 (GRCm39)	N278S	probably benign	Het
Or52n4b	C	A	7: 108,144,598 (GRCm39)	P289T	probably damaging	Het
Or6b2b	A	G	1: 92,419,042 (GRCm39)	V145A	probably benign	Het
Or7e175	T	C	9: 20,040,307 (GRCm39)			Het
Panx2	A	G	15: 88,952,169 (GRCm39)	K212R	probably damaging	Het
Paxip1	A	C	5: 27,977,002 (GRCm39)	H353Q	unknown	Het
Pbx4	C	A	8: 70,285,475 (GRCm39)	D39E	probably damaging	Het
Phc2	G	A	4: 128,604,932 (GRCm39)	A223T	probably benign	Het
Plcl1	A	G	1: 55,445,608 (GRCm39)	D21G	probably benign	Het
Plec	G	A	15: 76,057,632 (GRCm39)	R4102W	probably damaging	Het
Plekhh2	A	G	17: 84,884,608 (GRCm39)	Y774C	probably benign	Het
Polr2a	A	T	11: 69,630,828 (GRCm39)	Y1197N	probably damaging	Het
Psmg4	A	T	13: 34,347,195 (GRCm39)	H46L	probably benign	Het
Ptprk	A	G	10: 28,436,084 (GRCm39)	Y815C	probably damaging	Het
Qrich2	T	C	11: 116,346,547 (GRCm39)	I1426V	probably benign	Het
Rbm43	T	C	2: 51,816,763 (GRCm39)	D68G	probably benign	Het
Rgs6	T	C	12: 83,153,644 (GRCm39)	S360P	probably damaging	Het
Rp1l1	T	G	14: 64,267,588 (GRCm39)	L1058R	probably damaging	Het
Rreb1	A	G	13: 38,077,874 (GRCm39)	S29G	probably benign	Het
Scube1	C	A	15: 83,522,988 (GRCm39)	R284L	possibly damaging	Het
Serpinb9h	G	T	13: 33,588,299 (GRCm39)	D295Y	probably benign	Het
Slc13a3	T	C	2: 165,272,242 (GRCm39)	Q267R	probably benign	Het
Slc49a3	T	C	5: 108,596,685 (GRCm39)	T16A	probably benign	Het
Slc5a1	A	T	5: 33,318,288 (GRCm39)	N647I	probably damaging	Het
Sphk2	A	T	7: 45,361,006 (GRCm39)	S333T	probably benign	Het
Sptan1	A	G	2: 29,890,068 (GRCm39)	D1050G	probably benign	Het
Tdo2	G	T	3: 81,870,065 (GRCm39)	A269E	probably damaging	Het
Tnc	A	T	4: 63,938,648 (GRCm39)	C64S	probably damaging	Het
Trim47	T	A	11: 115,998,383 (GRCm39)	E360D	probably damaging	Het
Trp53i13	T	A	11: 77,399,129 (GRCm39)	T374S	possibly damaging	Het
Try5	A	G	6: 41,288,748 (GRCm39)	L157P	probably benign	Het
Ttn	A	T	2: 76,578,176 (GRCm39)	V24239D	probably damaging	Het
Ttn	T	C	2: 76,773,667 (GRCm39)	Y2318C	unknown	Het
Txn1	T	C	4: 57,945,199 (GRCm39)	D68G	possibly damaging	Het
Upf3a	A	G	8: 13,837,418 (GRCm39)	D121G	probably damaging	Het
Vmn2r114	T	C	17: 23,510,239 (GRCm39)	Y747C	probably damaging	Het
Vmn2r68	A	G	7: 84,881,587 (GRCm39)	W498R	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Zp2	A	T	7: 119,733,167 (GRCm39)	F591L	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
R4831:Gfm2	UTSW	13	97,301,546 (GRCm39)	missense	probably damaging	1.00
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
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'- AAAGGCTCTCGCTGAACCTG -3'
(R):5'- TGAATGTTCTGTCAGCAGTCAGG -3'

Sequencing Primer
(F):5'- CTGAACCTGAGCTATGCTGGAG -3'
(R):5'- TTCTGTCAGCAGTCAGGACAGATG -3'

Posted On

2019-10-24