Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01728:Mtfmt'

105376

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 #

IGL01728

Quality Score

Status

Chromosome

Chromosomal Location

65343064-65360336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65343100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 2 (L2H)

Ref Sequence

ENSEMBL: ENSMUSP00000074347 (fasta)

Gene Model

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

AlphaFold

Q9D799

Predicted Effect

probably damaging
Transcript: ENSMUST00000074792
AA Change: L2H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183
AA Change: L2H

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: ENSMUST00000132966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140244

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
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
Adamtsl1	T	C	4: 86,029,074 (GRCm39)	I71T	probably damaging	Het
Agbl3	T	C	6: 34,759,092 (GRCm39)	M1T	probably null	Het
Ankib1	A	G	5: 3,751,992 (GRCm39)		probably benign	Het
Brinp3	T	G	1: 146,707,289 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,087,085 (GRCm39)	N138S	possibly damaging	Het
Dock7	G	A	4: 98,850,568 (GRCm39)	T1588M	probably damaging	Het
Ehbp1	G	A	11: 22,051,115 (GRCm39)	T479I	probably damaging	Het
Gpn2	T	C	4: 133,311,813 (GRCm39)	I15T	possibly damaging	Het
H3c2	G	A	13: 23,936,712 (GRCm39)	R117H	probably benign	Het
Haao	A	G	17: 84,142,658 (GRCm39)	F149S	probably damaging	Het
Iqsec3	T	A	6: 121,389,623 (GRCm39)		probably benign	Het
Lrrc39	G	T	3: 116,373,149 (GRCm39)		probably benign	Het
Ltbp2	C	A	12: 84,837,783 (GRCm39)	S1199I	probably damaging	Het
Mageb3	G	T	2: 121,784,941 (GRCm39)	P254T	probably damaging	Het
Mapkbp1	C	T	2: 119,854,302 (GRCm39)	P1300S	probably damaging	Het
Myo18a	G	T	11: 77,668,682 (GRCm39)	G181W	probably damaging	Het
Mzf1	T	C	7: 12,785,654 (GRCm39)		probably benign	Het
Nfatc2	A	T	2: 168,378,162 (GRCm39)	L280Q	probably damaging	Het
Nudt15	A	G	14: 73,760,736 (GRCm39)		probably null	Het
Or51k2	T	C	7: 103,595,959 (GRCm39)	F62S	probably damaging	Het
Or8b53	A	G	9: 38,667,391 (GRCm39)	M136V	possibly damaging	Het
Parp14	A	G	16: 35,677,805 (GRCm39)	V721A	probably damaging	Het
Pbp2	G	T	6: 135,287,073 (GRCm39)	N91K	probably damaging	Het
Pde7b	C	A	10: 20,310,210 (GRCm39)		probably null	Het
Pramel7	C	A	2: 87,321,674 (GRCm39)	E120D	possibly damaging	Het
Rbbp5	C	T	1: 132,425,818 (GRCm39)	T516M	probably benign	Het
Slc16a12	A	G	19: 34,668,071 (GRCm39)	V28A	possibly damaging	Het
Slc6a9	T	C	4: 117,721,802 (GRCm39)	F276S	probably damaging	Het
Spata9	A	T	13: 76,141,193 (GRCm39)	I147L	probably benign	Het
Tenm4	A	T	7: 96,545,271 (GRCm39)	Y2429F	probably damaging	Het
Tmtc1	A	G	6: 148,312,564 (GRCm39)	S212P	probably benign	Het
Unc5cl	A	T	17: 48,766,991 (GRCm39)	I122F	probably damaging	Het
Unc79	T	A	12: 103,131,943 (GRCm39)	F2350I	probably damaging	Het

Other mutations in Mtfmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Mtfmt	APN	9	65,344,356 (GRCm39)	missense	probably benign	0.03
IGL02200:Mtfmt	APN	9	65,356,063 (GRCm39)	splice site	probably benign
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

2014-01-21