Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02200:Mtfmt'

284171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtfmt

Ensembl Gene

ENSMUSG00000059183

Gene Name

mitochondrial methionyl-tRNA formyltransferase

Synonyms

2310020P08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02200

Quality Score

Status

Chromosome

Chromosomal Location

65343064-65360336 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 65356063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074792]

AlphaFold

Q9D799

Predicted Effect

probably benign
Transcript: ENSMUST00000074792

SMART Domains

Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183

Domain	Start	End	E-Value	Type
low complexity region	68	77	N/A	INTRINSIC
Pfam:Formyl_trans_N	105	215	1.5e-27	PFAM
Pfam:Formyl_trans_C	238	345	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214308

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,663 (GRCm39)	E207G	probably benign	Het
Ahi1	T	C	10: 20,857,213 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,536,302 (GRCm39)	V97E	probably damaging	Het
Cadps2	T	C	6: 23,385,527 (GRCm39)	Y736C	probably damaging	Het
Cdon	T	C	9: 35,394,405 (GRCm39)	W884R	probably benign	Het
Cflar	A	G	1: 58,791,828 (GRCm39)	D380G	probably damaging	Het
Clca3a1	A	T	3: 144,457,690 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,547,190 (GRCm39)	S316P	probably damaging	Het
Crispld1	T	C	1: 17,820,557 (GRCm39)		probably benign	Het
Diaph1	G	A	18: 38,023,735 (GRCm39)	P701L	unknown	Het
Dip2b	T	C	15: 100,049,083 (GRCm39)	L159P	possibly damaging	Het
Dock1	A	G	7: 134,346,000 (GRCm39)	T181A	probably benign	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Gm2663	A	G	6: 40,972,947 (GRCm39)	V220A	probably benign	Het
Gpi-ps	A	G	8: 5,689,968 (GRCm39)		noncoding transcript	Het
Grik1	A	G	16: 87,737,453 (GRCm39)	F614L	probably damaging	Het
Htr2a	T	A	14: 74,943,605 (GRCm39)	I395N	probably damaging	Het
Itsn2	A	G	12: 4,686,632 (GRCm39)	D528G	probably damaging	Het
Kdr	T	C	5: 76,110,762 (GRCm39)		probably benign	Het
M6pr	A	G	6: 122,292,027 (GRCm39)	M120V	probably benign	Het
Mettl13	G	A	1: 162,366,392 (GRCm39)		probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Ogfrl1	C	T	1: 23,409,150 (GRCm39)	V359I	probably benign	Het
Or51f1d	C	T	7: 102,701,000 (GRCm39)	T165I	probably benign	Het
Ovch2	T	C	7: 107,394,030 (GRCm39)	Y141C	probably damaging	Het
Pwwp2a	A	C	11: 43,596,955 (GRCm39)	I432L	possibly damaging	Het
Ryr3	C	T	2: 112,679,855 (GRCm39)	V1245M	probably damaging	Het
Sis	T	C	3: 72,850,937 (GRCm39)	H587R	probably damaging	Het
Snrnp40	A	G	4: 130,254,014 (GRCm39)	K6E	probably damaging	Het
Snx13	A	T	12: 35,136,884 (GRCm39)	D115V	probably damaging	Het
Sohlh2	C	A	3: 55,097,977 (GRCm39)	T143K	probably damaging	Het
Spag4	T	C	2: 155,908,517 (GRCm39)	L55S	probably benign	Het
Trgc2	T	C	13: 19,491,521 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,451,187 (GRCm39)	S358P	probably benign	Het

Other mutations in Mtfmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:Mtfmt	APN	9	65,343,100 (GRCm39)	missense	probably damaging	0.99
IGL01980:Mtfmt	APN	9	65,344,356 (GRCm39)	missense	probably benign	0.03
IGL02375:Mtfmt	APN	9	65,346,849 (GRCm39)	missense	probably damaging	1.00
IGL03202:Mtfmt	APN	9	65,356,008 (GRCm39)	missense	probably damaging	1.00
R2697:Mtfmt	UTSW	9	65,359,303 (GRCm39)	missense	probably benign	0.15
R4898:Mtfmt	UTSW	9	65,359,386 (GRCm39)	missense	probably benign	0.00
R4994:Mtfmt	UTSW	9	65,351,133 (GRCm39)	intron	probably benign
R5046:Mtfmt	UTSW	9	65,346,897 (GRCm39)	missense	probably damaging	0.99
R6110:Mtfmt	UTSW	9	65,354,586 (GRCm39)	critical splice donor site	probably null
R6243:Mtfmt	UTSW	9	65,351,182 (GRCm39)	missense	probably benign	0.30
R8475:Mtfmt	UTSW	9	65,359,469 (GRCm39)	missense	probably benign	0.32
R8926:Mtfmt	UTSW	9	65,344,414 (GRCm39)	nonsense	probably null
R9480:Mtfmt	UTSW	9	65,351,181 (GRCm39)	missense	possibly damaging	0.46
R9506:Mtfmt	UTSW	9	65,343,147 (GRCm39)	missense	probably benign
R9509:Mtfmt	UTSW	9	65,343,147 (GRCm39)	missense	probably benign
R9510:Mtfmt	UTSW	9	65,343,147 (GRCm39)	missense	probably benign
R9511:Mtfmt	UTSW	9	65,343,147 (GRCm39)	missense	probably benign

Posted On

2015-04-16