Mutagenetix > Incidental Mutation

Incidental Mutation 'R9506:Mtfmt'

717830

Institutional Source

Beutler Lab

Gene Symbol

Mtfmt

Ensembl Gene

ENSMUSG00000059183

Gene Name

mitochondrial methionyl-tRNA formyltransferase

Synonyms

2310020P08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65343064-65360336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65343147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 18 (R18C)

Ref Sequence

ENSEMBL: ENSMUSP00000074347 (fasta)

Gene Model

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

AlphaFold

Q9D799

Predicted Effect

probably benign
Transcript: ENSMUST00000074792
AA Change: R18C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183
AA Change: R18C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,437,773 (GRCm39)	T632A	unknown	Het
Atp2b1	T	C	10: 98,858,862 (GRCm39)	S1182P	probably benign	Het
Best3	T	A	10: 116,839,826 (GRCm39)	F225I	probably damaging	Het
Camk1g	A	G	1: 193,030,363 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cflar	A	T	1: 58,791,975 (GRCm39)	Q426L		Het
Chrna9	T	A	5: 66,128,213 (GRCm39)	D140E	probably damaging	Het
Cmpk2	A	G	12: 26,519,850 (GRCm39)	D167G	probably benign	Het
Csmd1	A	G	8: 16,250,023 (GRCm39)	L985P	probably damaging	Het
Cutal	A	G	2: 34,775,894 (GRCm39)	D75G	probably null	Het
Dnah12	G	T	14: 26,514,168 (GRCm39)	V1776F	probably benign	Het
Dnah6	A	G	6: 73,119,299 (GRCm39)	V1528A	probably damaging	Het
Elovl1	A	G	4: 118,287,912 (GRCm39)	D16G	probably damaging	Het
Ermard	T	A	17: 15,281,368 (GRCm39)	L593M	probably damaging	Het
Fstl4	A	G	11: 53,024,950 (GRCm39)	D274G	probably benign	Het
Gabrg1	C	T	5: 70,939,713 (GRCm39)	V140M	probably damaging	Het
Glrx2	C	T	1: 143,622,270 (GRCm39)	R89*	probably null	Het
Gsta3	A	C	1: 21,327,586 (GRCm39)	D40A	possibly damaging	Het
H4c3	C	T	13: 23,882,264 (GRCm39)	G57S	probably benign	Het
Hsf2	G	A	10: 57,381,241 (GRCm39)		probably null	Het
Ifi203	A	G	1: 173,751,565 (GRCm39)	S833P	possibly damaging	Het
Ilk	T	C	7: 105,390,020 (GRCm39)	Y132H	probably benign	Het
Jup	G	A	11: 100,267,704 (GRCm39)	R540C	probably damaging	Het
Kdm7a	T	A	6: 39,126,305 (GRCm39)	H560L	probably benign	Het
Kynu	T	A	2: 43,571,414 (GRCm39)	N443K	probably damaging	Het
Mbd5	T	C	2: 49,162,919 (GRCm39)	S1134P	probably damaging	Het
Mknk2	T	C	10: 80,503,918 (GRCm39)	D331G	probably benign	Het
Myo5b	A	G	18: 74,877,831 (GRCm39)	Q1584R	possibly damaging	Het
Nup210	G	A	6: 91,048,856 (GRCm39)	P467S	possibly damaging	Het
Nxf1	A	G	19: 8,749,508 (GRCm39)	Y135C	probably damaging	Het
Or4a67	T	C	2: 88,597,840 (GRCm39)	Y273C	probably damaging	Het
Rab11fip3	T	G	17: 26,213,250 (GRCm39)	E853A	probably damaging	Het
Rap1gap2	A	G	11: 74,305,266 (GRCm39)	M313T	probably damaging	Het
Rims2	G	A	15: 39,335,832 (GRCm39)	V814I	probably damaging	Het
Sec16a	A	T	2: 26,319,384 (GRCm39)		probably null	Het
Slc36a3	A	G	11: 55,039,457 (GRCm39)	I57T	probably benign	Het
Slc5a9	G	A	4: 111,750,439 (GRCm39)	R140*	probably null	Het
Tas2r131	T	A	6: 132,934,024 (GRCm39)	T262S	possibly damaging	Het
Tigd3	G	T	19: 5,942,860 (GRCm39)	A90D	probably damaging	Het
Txnrd3	A	G	6: 89,638,461 (GRCm39)	M217V	possibly damaging	Het
Ube3d	A	G	9: 86,330,825 (GRCm39)	I119T	probably damaging	Het
Vcp	A	G	4: 42,983,383 (GRCm39)	V559A	probably damaging	Het
Vmn1r173	T	A	7: 23,401,963 (GRCm39)	I66N	probably damaging	Het
Vmn1r234	T	G	17: 21,449,503 (GRCm39)	I139S	probably benign	Het
Vmn2r105	C	T	17: 20,429,404 (GRCm39)	M557I	probably benign	Het
Wnt7b	A	G	15: 85,465,613 (GRCm39)	S22P	unknown	Het
Zfp850	C	A	7: 27,688,987 (GRCm39)	R407L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTCTTCAGTTGAGCCACG -3'
(R):5'- AGCCCTTTTCAGCTAACCG -3'

Sequencing Primer
(F):5'- GTTGAGCCACGCCTCCAAAG -3'
(R):5'- TTCAGCTAACCGGCTCCG -3'

Posted On

2022-07-18