Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02851:Mterf2'

361870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mterf2

Ensembl Gene

ENSMUSG00000049038

Gene Name

mitochondrial transcription termination factor 2

Synonyms

Mterfd3, 1700007D05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02851

Quality Score

Status

Chromosome

Chromosomal Location

84955297-84963891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84955878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 249 (S249T)

Ref Sequence

ENSEMBL: ENSMUSP00000062762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050813] [ENSMUST00000095383] [ENSMUST00000214193] [ENSMUST00000214607] [ENSMUST00000216771] [ENSMUST00000217027]

AlphaFold

Q8BKY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000050813
AA Change: S249T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062762
Gene: ENSMUSG00000049038
AA Change: S249T

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Blast:Mterf	60	90	2e-7	BLAST
Blast:Mterf	95	126	1e-10	BLAST
Mterf	130	162	5.31e2	SMART
Blast:Mterf	167	197	8e-10	BLAST
Mterf	210	240	2.12e2	SMART
Mterf	282	312	8.02e-2	SMART
Mterf	313	343	1.02e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095383

SMART Domains

Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935

Domain	Start	End	E-Value	Type
Pfam:UPF0444	24	114	1.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214193

Predicted Effect

probably benign
Transcript: ENSMUST00000214607

Predicted Effect

probably benign
Transcript: ENSMUST00000216771

Predicted Effect

probably benign
Transcript: ENSMUST00000217027

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trapped allele gain less weight than wild-type controls, develop a myopathy, and show memory deficits, decreased levels of mitochondrial transcripts, an imbalanced tRNA pool, impaired oxidative phosphorylation, reduced respiratory function, and enlarged mitochondrial mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	T	C	12: 112,623,518 (GRCm39)	E314G	probably damaging	Het
Amtn	C	A	5: 88,529,481 (GRCm39)	Q106K	probably benign	Het
Birc6	T	C	17: 74,916,184 (GRCm39)	F1700S	probably damaging	Het
Brdt	T	C	5: 107,525,861 (GRCm39)	S905P	possibly damaging	Het
Ccdc68	C	T	18: 70,080,236 (GRCm39)	Q194*	probably null	Het
Cdc27	A	G	11: 104,417,807 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 119,401,897 (GRCm39)	T100A	probably benign	Het
Cdsn	A	G	17: 35,866,791 (GRCm39)	H440R	possibly damaging	Het
Cenpf	C	A	1: 189,390,227 (GRCm39)	D1202Y	probably damaging	Het
Chat	C	A	14: 32,180,570 (GRCm39)	V21L	probably benign	Het
Clca4c-ps	T	A	3: 144,585,493 (GRCm39)		noncoding transcript	Het
Cst9	A	G	2: 148,677,203 (GRCm39)	I25V	probably benign	Het
Dennd1b	C	A	1: 139,096,705 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,928,570 (GRCm39)		probably benign	Het
Dpp3	T	G	19: 4,973,159 (GRCm39)	Q145P	probably benign	Het
Elovl5	C	T	9: 77,888,784 (GRCm39)	T217M	probably damaging	Het
Etl4	T	C	2: 20,812,840 (GRCm39)	V906A	possibly damaging	Het
Gm10647	C	T	9: 66,705,543 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,918 (GRCm39)	N736S	probably damaging	Het
Hectd1	A	G	12: 51,814,423 (GRCm39)	S1638P	possibly damaging	Het
Hsd3b2	T	G	3: 98,623,740 (GRCm39)	E46A	possibly damaging	Het
Igkv15-103	A	G	6: 68,414,674 (GRCm39)	T38A	probably benign	Het
Itpr2	C	A	6: 146,287,477 (GRCm39)	V450L	probably damaging	Het
Kbtbd12	T	C	6: 88,595,311 (GRCm39)	H173R	probably benign	Het
Man1a	G	A	10: 53,795,340 (GRCm39)	R638W	probably damaging	Het
Muc6	T	C	7: 141,234,627 (GRCm39)	D700G	probably damaging	Het
Myh13	A	G	11: 67,239,742 (GRCm39)	H764R	possibly damaging	Het
Myh7b	A	G	2: 155,470,747 (GRCm39)	D1065G	probably damaging	Het
Naip1	C	A	13: 100,569,770 (GRCm39)	W288L	probably damaging	Het
Naip6	C	A	13: 100,437,168 (GRCm39)	A452S	probably benign	Het
Nop2	A	C	6: 125,121,048 (GRCm39)	K610T	possibly damaging	Het
Nop2	G	T	6: 125,121,033 (GRCm39)	G605V	probably benign	Het
Npvf	G	A	6: 50,629,670 (GRCm39)	R107W	probably benign	Het
Or10h28	T	A	17: 33,488,328 (GRCm39)	I210K	probably benign	Het
Or2h2	T	C	17: 37,397,048 (GRCm39)		probably null	Het
Os9	G	A	10: 126,935,262 (GRCm39)		probably benign	Het
Parp4	T	C	14: 56,886,326 (GRCm39)	S1802P	unknown	Het
Piezo2	G	A	18: 63,153,704 (GRCm39)	S2547F	probably benign	Het
Plekha7	G	T	7: 115,734,413 (GRCm39)	A1024E	probably damaging	Het
R3hdm1	T	C	1: 128,102,677 (GRCm39)		probably benign	Het
Robo4	T	C	9: 37,324,678 (GRCm39)	S1022P	probably damaging	Het
Sc5d	T	C	9: 42,166,690 (GRCm39)	N283S	probably benign	Het
Scn10a	C	T	9: 119,500,674 (GRCm39)	V202M	probably damaging	Het
Slco1a8	C	T	6: 141,949,197 (GRCm39)	G60R	probably damaging	Het
Spag16	T	C	1: 70,304,067 (GRCm39)	I366T	possibly damaging	Het
Sptbn4	G	A	7: 27,126,258 (GRCm39)	R222C	possibly damaging	Het
Tlr9	C	T	9: 106,101,929 (GRCm39)	Q407*	probably null	Het
Trappc12	G	A	12: 28,741,405 (GRCm39)	S768L	probably damaging	Het
Vmn2r44	A	T	7: 8,386,050 (GRCm39)	L63Q	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	probably benign	Het

Other mutations in Mterf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Mterf2	APN	10	84,955,677 (GRCm39)	missense	probably damaging	0.97
IGL02553:Mterf2	APN	10	84,956,331 (GRCm39)	missense	probably damaging	0.99
IGL02861:Mterf2	APN	10	84,956,195 (GRCm39)	missense	probably damaging	0.98
IGL03111:Mterf2	APN	10	84,955,786 (GRCm39)	nonsense	probably null
IGL03169:Mterf2	APN	10	84,956,324 (GRCm39)	missense	probably benign	0.02
R0941:Mterf2	UTSW	10	84,955,934 (GRCm39)	missense	possibly damaging	0.74
R2241:Mterf2	UTSW	10	84,956,180 (GRCm39)	missense	possibly damaging	0.57
R3825:Mterf2	UTSW	10	84,956,147 (GRCm39)	missense	probably damaging	1.00
R4964:Mterf2	UTSW	10	84,955,979 (GRCm39)	missense	probably damaging	1.00
R5015:Mterf2	UTSW	10	84,955,596 (GRCm39)	missense	probably benign	0.00
R6586:Mterf2	UTSW	10	84,955,970 (GRCm39)	missense	probably damaging	1.00
R7032:Mterf2	UTSW	10	84,956,527 (GRCm39)	nonsense	probably null
R7405:Mterf2	UTSW	10	84,956,360 (GRCm39)	missense	probably damaging	1.00
R7705:Mterf2	UTSW	10	84,956,381 (GRCm39)	missense	probably damaging	1.00
R8079:Mterf2	UTSW	10	84,956,027 (GRCm39)	missense	probably damaging	1.00
R9375:Mterf2	UTSW	10	84,956,327 (GRCm39)	missense	probably damaging	1.00
R9626:Mterf2	UTSW	10	84,956,295 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18