Mutagenetix > Incidental Mutation

Incidental Mutation 'R0863:Gfm1'

82180

Institutional Source

Beutler Lab

Gene Symbol

Gfm1

Ensembl Gene

ENSMUSG00000027774

Gene Name

G elongation factor, mitochondrial 1

Synonyms

D3Wsu133e

MMRRC Submission

039037-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0863 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

67337448-67382401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67381928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 705 (S705P)

Ref Sequence

ENSEMBL: ENSMUSP00000076503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054825] [ENSMUST00000077271]

AlphaFold

Q8K0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000054825

SMART Domains

Protein: ENSMUSP00000056728
Gene: ENSMUSG00000049404

Domain	Start	End	E-Value	Type
low complexity region	45	62	N/A	INTRINSIC
Pfam:Latexin	81	299	8e-103	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000077271
AA Change: S705P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: S705P

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: ENSMUST00000160529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195639

Meta Mutation Damage Score

0.9580

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

94% (59/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,327,232 (GRCm39)		noncoding transcript	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca14	A	T	7: 119,815,453 (GRCm39)	T234S	probably benign	Het
Acap1	C	A	11: 69,777,882 (GRCm39)	V119L	probably damaging	Het
Actr2	C	T	11: 20,030,760 (GRCm39)	V163I	probably benign	Het
Adcy4	T	C	14: 56,021,056 (GRCm39)	Y27C	probably damaging	Het
Arnt2	T	A	7: 83,914,792 (GRCm39)	K524M	probably damaging	Het
Brca1	T	C	11: 101,415,596 (GRCm39)	Y846C	probably benign	Het
Capn7	T	A	14: 31,091,714 (GRCm39)	C704S	possibly damaging	Het
Cep350	T	A	1: 155,737,981 (GRCm39)	I2621L	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,848,748 (GRCm39)		probably null	Het
Erc2	A	C	14: 27,747,105 (GRCm39)	N345T	probably benign	Het
Fank1	A	G	7: 133,482,352 (GRCm39)	R73G	possibly damaging	Het
Fes	A	T	7: 80,030,634 (GRCm39)	W552R	probably damaging	Het
Fsd2	A	G	7: 81,191,913 (GRCm39)	V488A	possibly damaging	Het
Gm9493	A	T	19: 23,597,173 (GRCm39)	Q23L	probably benign	Het
Gucy1b2	T	C	14: 62,656,511 (GRCm39)	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,486,328 (GRCm39)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,677,582 (GRCm39)	Y232F	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lonp1	T	C	17: 56,925,331 (GRCm39)	K487R	probably damaging	Het
Ltbp1	A	G	17: 75,559,381 (GRCm39)	Y290C	probably damaging	Het
Ms4a10	C	T	19: 10,945,957 (GRCm39)	G58D	probably damaging	Het
Muc5b	A	G	7: 141,421,454 (GRCm39)	S4315G	probably benign	Het
Nlrp1b	T	A	11: 71,072,173 (GRCm39)	T557S	probably benign	Het
Nlrp3	A	G	11: 59,456,676 (GRCm39)	D946G	probably benign	Het
Obscn	T	C	11: 58,886,241 (GRCm39)		probably benign	Het
Oga	C	T	19: 45,771,425 (GRCm39)	A49T	probably benign	Het
Or10ab5	A	G	7: 108,244,865 (GRCm39)	I306T	probably benign	Het
Or5p50	T	C	7: 107,422,581 (GRCm39)	S32G	probably benign	Het
Or7e173	A	T	9: 19,938,509 (GRCm39)	S242T	probably damaging	Het
Pask	A	T	1: 93,242,061 (GRCm39)	F1219I	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Phf1	T	C	17: 27,156,114 (GRCm39)		probably benign	Het
Plec	G	A	15: 76,058,280 (GRCm39)	Q3751*	probably null	Het
Plscr1l1	A	T	9: 92,233,140 (GRCm39)	I88L	possibly damaging	Het
Ppp1r12c	G	T	7: 4,489,365 (GRCm39)	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,809,466 (GRCm39)	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,829,562 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,823,916 (GRCm39)	S381R	possibly damaging	Het
Sema4a	C	T	3: 88,355,456 (GRCm39)		probably benign	Het
Sltm	A	G	9: 70,469,190 (GRCm39)	T150A	probably benign	Het
Spag1	G	T	15: 36,192,193 (GRCm39)	K217N	probably damaging	Het
Ssh1	C	T	5: 114,104,792 (GRCm39)	R9H	probably damaging	Het
St3gal4	C	A	9: 34,964,744 (GRCm39)	V155F	probably damaging	Het
Stxbp5	C	T	10: 9,684,784 (GRCm39)	E539K	possibly damaging	Het
Tbc1d7	G	T	13: 43,308,161 (GRCm39)		probably benign	Het
Thnsl2	A	T	6: 71,111,208 (GRCm39)	L220*	probably null	Het
Tinf2	G	A	14: 55,917,566 (GRCm39)	P308S	probably benign	Het
Tnf	T	C	17: 35,420,120 (GRCm39)		probably benign	Het
Ttc21b	T	C	2: 66,073,117 (GRCm39)	I190V	probably benign	Het
Ttn	T	C	2: 76,537,391 (GRCm39)	T34846A	probably benign	Het
Ube4a	A	G	9: 44,861,114 (GRCm39)	V232A	possibly damaging	Het
Uri1	A	T	7: 37,669,100 (GRCm39)	D122E	probably damaging	Het
Vmn2r94	T	G	17: 18,477,973 (GRCm39)	Q146P	probably damaging	Het
Zan	T	A	5: 137,456,901 (GRCm39)	E1278D	unknown	Het
Zfhx4	T	A	3: 5,310,375 (GRCm39)	S919R	possibly 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
R1626:Gfm1	UTSW	3	67,345,977 (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'- GCCCAACGTGTCTGTCTGTCTG -3'
(R):5'- TCCATCATCCCCAAGTGTGGTAGTC -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- TCCCCAAGTGTGGTAGTCAAATAG -3'

Posted On

2013-11-08