Mutagenetix > Incidental Mutation

Incidental Mutation 'R1626:Gfm1'

172479

Institutional Source

Beutler Lab

Gene Symbol

Gfm1

Ensembl Gene

ENSMUSG00000027774

Gene Name

G elongation factor, mitochondrial 1

Synonyms

D3Wsu133e

MMRRC Submission

039663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67337448-67382401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67345977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 225 (Y225C)

Ref Sequence

ENSEMBL: ENSMUSP00000076503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077271]

AlphaFold

Q8K0D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000077271
AA Change: Y225C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: Y225C

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	45	320	3.5e-65	PFAM
Pfam:GTP_EFTU_D2	366	432	6e-18	PFAM
Pfam:EFG_II	446	520	1.9e-31	PFAM
EFG_IV	522	642	1.64e-47	SMART
EFG_C	644	731	2.16e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161009

SMART Domains

Protein: ENSMUSP00000125161
Gene: ENSMUSG00000027774

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	45	320	3.4e-63	PFAM
Pfam:GTP_EFTU_D2	366	432	4.1e-18	PFAM
Pfam:EFG_II	446	520	4.4e-33	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.1%

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. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,571 (GRCm39)	Y71H	possibly damaging	Het
Acsl6	C	A	11: 54,242,872 (GRCm39)	P628T	probably damaging	Het
Ak7	A	G	12: 105,734,807 (GRCm39)	D591G	probably benign	Het
Anxa5	T	C	3: 36,516,130 (GRCm39)	D66G	probably damaging	Het
Cacna1b	G	A	2: 24,496,721 (GRCm39)	T2283I	probably damaging	Het
Cand1	A	T	10: 119,045,919 (GRCm39)	D995E	possibly damaging	Het
Cblc	G	T	7: 19,530,427 (GRCm39)	A94E	probably damaging	Het
Cd48	G	A	1: 171,509,687 (GRCm39)	C9Y	probably benign	Het
Chd9	A	G	8: 91,721,224 (GRCm39)	K1004R	probably benign	Het
Cilk1	A	G	9: 78,057,919 (GRCm39)	Y156C	probably damaging	Het
Cldn1	T	C	16: 26,190,202 (GRCm39)	T59A	probably damaging	Het
Col11a1	G	A	3: 113,925,218 (GRCm39)	G17D	probably damaging	Het
Cpeb1	A	G	7: 81,085,995 (GRCm39)	V49A	probably damaging	Het
Cyp4b1	G	T	4: 115,498,855 (GRCm39)	P109Q	probably damaging	Het
Dhrs7b	T	A	11: 60,735,082 (GRCm39)	F23I	possibly damaging	Het
Dnah9	C	A	11: 65,976,093 (GRCm39)	A1319S	probably benign	Het
Egf	A	T	3: 129,479,864 (GRCm39)	V553D	possibly damaging	Het
Fbn1	T	C	2: 125,183,199 (GRCm39)	D1760G	probably damaging	Het
Fbxo31	A	G	8: 122,286,745 (GRCm39)	F178L	probably damaging	Het
Fstl4	C	A	11: 52,891,117 (GRCm39)	S85*	probably null	Het
Gm10797	A	T	10: 67,408,453 (GRCm39)		noncoding transcript	Het
H3c8	G	A	13: 23,719,721 (GRCm39)	V36M	probably damaging	Het
Heatr4	T	A	12: 84,020,495 (GRCm39)	I499L	probably benign	Het
Igfn1	A	T	1: 135,896,705 (GRCm39)	M1287K	probably benign	Het
Inpp5b	C	A	4: 124,677,696 (GRCm39)	D385E	probably damaging	Het
Lrrc9	A	G	12: 72,542,435 (GRCm39)		probably null	Het
Ltb4r1	A	G	14: 56,004,699 (GRCm39)	M1V	probably null	Het
Macf1	T	C	4: 123,365,327 (GRCm39)	I3145V	probably benign	Het
Man2a2	T	C	7: 80,017,450 (GRCm39)	N277S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mgat4e	A	G	1: 134,469,016 (GRCm39)	Y343H	probably benign	Het
Noxred1	T	C	12: 87,268,029 (GRCm39)	*367W	probably null	Het
Nup58	A	T	14: 60,480,076 (GRCm39)	L190*	probably null	Het
Olfml2a	G	T	2: 38,841,275 (GRCm39)	K270N	probably damaging	Het
Or5c1	A	G	2: 37,222,774 (GRCm39)		probably null	Het
Or7g32	A	G	9: 19,389,495 (GRCm39)	L14P	probably damaging	Het
Phgdh	G	T	3: 98,223,725 (GRCm39)	Q359K	probably benign	Het
Plpp5	G	T	8: 26,212,604 (GRCm39)	C200F	possibly damaging	Het
Pole	A	C	5: 110,441,235 (GRCm39)	I230L	probably benign	Het
Prtg	A	T	9: 72,752,193 (GRCm39)	D193V	probably damaging	Het
Ptgs2	G	A	1: 149,979,619 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,573 (GRCm39)	Q1221L	probably benign	Het
Rufy2	T	C	10: 62,831,151 (GRCm39)	I204T	probably benign	Het
Rybp	A	G	6: 100,209,919 (GRCm39)	S115P	possibly damaging	Het
Samd13	A	G	3: 146,368,481 (GRCm39)	V37A	probably benign	Het
Secisbp2l	T	G	2: 125,617,606 (GRCm39)	K24Q	probably damaging	Het
Sorbs2	A	G	8: 46,222,891 (GRCm39)	Y198C	probably damaging	Het
Svil	T	G	18: 5,117,099 (GRCm39)		probably null	Het
Ttc24	G	T	3: 87,977,366 (GRCm39)	R127S	probably benign	Het
Ttn	C	T	2: 76,588,888 (GRCm39)	V21394M	probably damaging	Het
Tubal3	G	T	13: 3,982,841 (GRCm39)	C207F	probably damaging	Het
Vmn2r16	A	T	5: 109,511,443 (GRCm39)	D550V	probably damaging	Het
Vmn2r2	T	A	3: 64,041,921 (GRCm39)	I265F	possibly damaging	Het
Zfp507	T	C	7: 35,494,858 (GRCm39)	K62E	probably damaging	Het

Other mutations in Gfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Gfm1	APN	3	67,345,893 (GRCm39)	missense	possibly damaging	0.79
IGL01377:Gfm1	APN	3	67,382,086 (GRCm39)	missense	probably damaging	1.00
IGL01397:Gfm1	APN	3	67,350,991 (GRCm39)	missense	probably benign	0.09
IGL01738:Gfm1	APN	3	67,363,994 (GRCm39)	missense	probably benign	0.15
IGL02679:Gfm1	APN	3	67,382,100 (GRCm39)	missense	possibly damaging	0.56
IGL03271:Gfm1	APN	3	67,382,076 (GRCm39)	missense	probably damaging	1.00
R0389:Gfm1	UTSW	3	67,365,251 (GRCm39)	missense	probably benign	0.00
R0815:Gfm1	UTSW	3	67,381,928 (GRCm39)	missense	probably damaging	1.00
R0863:Gfm1	UTSW	3	67,381,928 (GRCm39)	missense	probably damaging	1.00
R1843:Gfm1	UTSW	3	67,342,943 (GRCm39)	missense	probably damaging	1.00
R1931:Gfm1	UTSW	3	67,363,918 (GRCm39)	missense	probably benign	0.44
R2097:Gfm1	UTSW	3	67,357,079 (GRCm39)	missense	probably damaging	0.97
R2149:Gfm1	UTSW	3	67,381,893 (GRCm39)	missense	probably damaging	1.00
R2337:Gfm1	UTSW	3	67,342,847 (GRCm39)	missense	probably damaging	1.00
R3739:Gfm1	UTSW	3	67,364,033 (GRCm39)	missense	probably damaging	1.00
R4193:Gfm1	UTSW	3	67,339,053 (GRCm39)	missense	probably damaging	1.00
R4661:Gfm1	UTSW	3	67,340,731 (GRCm39)	missense	probably damaging	1.00
R5023:Gfm1	UTSW	3	67,380,877 (GRCm39)	missense	probably damaging	1.00
R5057:Gfm1	UTSW	3	67,380,877 (GRCm39)	missense	probably damaging	1.00
R5503:Gfm1	UTSW	3	67,361,060 (GRCm39)	critical splice donor site	probably null
R5692:Gfm1	UTSW	3	67,342,955 (GRCm39)	missense	probably damaging	1.00
R5771:Gfm1	UTSW	3	67,342,895 (GRCm39)	missense	probably benign	0.11
R6232:Gfm1	UTSW	3	67,375,215 (GRCm39)	missense	possibly damaging	0.52
R6234:Gfm1	UTSW	3	67,342,847 (GRCm39)	missense	probably damaging	1.00
R6514:Gfm1	UTSW	3	67,380,879 (GRCm39)	missense	probably benign
R6911:Gfm1	UTSW	3	67,358,636 (GRCm39)	missense	possibly damaging	0.83
R7295:Gfm1	UTSW	3	67,347,514 (GRCm39)	missense	probably benign	0.30
R7899:Gfm1	UTSW	3	67,380,860 (GRCm39)	missense	probably benign	0.10
R8321:Gfm1	UTSW	3	67,337,594 (GRCm39)	missense	probably benign
R8465:Gfm1	UTSW	3	67,339,032 (GRCm39)	missense	probably damaging	1.00
R8473:Gfm1	UTSW	3	67,361,051 (GRCm39)	missense	possibly damaging	0.71
R9745:Gfm1	UTSW	3	67,358,657 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AATGGCCTGGTCATCTGCAACTC -3'
(R):5'- ACAGCCGTTGTCTATGCGGAAG -3'

Sequencing Primer
(F):5'- AGCCCTGATGTCTACCGTG -3'
(R):5'- ccttcagcttgctcctgac -3'

Posted On

2014-04-24