Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01980:Mtfmt'

182698

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 #

IGL01980

Quality Score

Status

Chromosome

Chromosomal Location

65343064-65360336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65344356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 94 (Y94C)

Ref Sequence

ENSEMBL: ENSMUSP00000074347 (fasta)

Gene Model

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

AlphaFold

Q9D799

Predicted Effect

probably benign
Transcript: ENSMUST00000074792
AA Change: Y94C

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183
AA Change: Y94C

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd60	C	T	2: 173,412,996 (GRCm39)	C164Y	probably benign	Het
Atp13a2	C	T	4: 140,733,463 (GRCm39)	A979V	probably benign	Het
Col5a2	C	T	1: 45,421,393 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,658,184 (GRCm39)	N676S	probably damaging	Het
Cpa1	T	C	6: 30,641,581 (GRCm39)	F192L	possibly damaging	Het
Entpd6	T	A	2: 150,604,286 (GRCm39)		probably null	Het
Fam185a	A	G	5: 21,664,171 (GRCm39)	K302E	probably damaging	Het
Il12rb2	T	C	6: 67,337,519 (GRCm39)	K121E	probably benign	Het
Impg2	G	A	16: 56,041,890 (GRCm39)	C178Y	probably damaging	Het
Kdm3b	G	T	18: 34,967,289 (GRCm39)	C1698F	probably damaging	Het
Llgl2	A	G	11: 115,740,851 (GRCm39)	D451G	probably damaging	Het
Mgat4b	T	A	11: 50,121,540 (GRCm39)	L52Q	probably damaging	Het
Mmp9	C	A	2: 164,792,836 (GRCm39)	S363R	probably benign	Het
Myo7b	G	A	18: 32,094,953 (GRCm39)	L1881F	possibly damaging	Het
Or51a10	A	T	7: 103,699,300 (GRCm39)	M87K	probably benign	Het
Or6c6	G	T	10: 129,187,386 (GRCm39)		probably benign	Het
Pex5	T	C	6: 124,375,339 (GRCm39)	N524S	probably damaging	Het
Plppr1	A	T	4: 49,319,992 (GRCm39)	Y206F	possibly damaging	Het
Polr3e	A	G	7: 120,539,519 (GRCm39)		probably benign	Het
Rhbdd1	A	G	1: 82,318,555 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,707,702 (GRCm39)		probably benign	Het
Smarcal1	A	T	1: 72,655,679 (GRCm39)	K653*	probably null	Het
Stt3b	C	T	9: 115,105,767 (GRCm39)		probably null	Het
Syt8	C	A	7: 141,993,877 (GRCm39)	L343M	probably damaging	Het
Tbc1d23	G	A	16: 57,009,615 (GRCm39)		probably benign	Het
Tfec	T	C	6: 16,845,465 (GRCm39)	I65V	probably damaging	Het
Tmem236	A	T	2: 14,223,716 (GRCm39)	Q168H	probably benign	Het
Tmem25	G	A	9: 44,709,568 (GRCm39)	R78*	probably null	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Ttc1	G	A	11: 43,621,291 (GRCm39)		probably benign	Het
Tubb4b-ps1	A	C	5: 7,229,843 (GRCm39)		probably benign	Het
Tut1	T	C	19: 8,931,364 (GRCm39)	C21R	probably damaging	Het
Ubr4	C	A	4: 139,156,913 (GRCm39)	Q2313K	probably damaging	Het
Unc5b	T	C	10: 60,615,966 (GRCm39)	E119G	probably damaging	Het
Vmn1r23	T	A	6: 57,903,475 (GRCm39)	Q101L	probably damaging	Het
Vmn2r77	A	G	7: 86,450,678 (GRCm39)	D188G	probably benign	Het
Vmn2r79	A	G	7: 86,686,290 (GRCm39)	E557G	possibly damaging	Het
Zfp738	A	G	13: 67,818,096 (GRCm39)	F632L	possibly damaging	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
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

2014-05-07