Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00331:Mterf1a'

6506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mterf1a

Ensembl Gene

ENSMUSG00000040429

Gene Name

mitochondrial transcription termination factor 1a

Synonyms

9230106K09Rik, 4931431L11Rik, Mterf1, Mterf

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

3940581-3943933 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3941610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 86 (E86G)

Ref Sequence

ENSEMBL: ENSMUSP00000113306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044746] [ENSMUST00000117463]

AlphaFold

Q8CHZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044746
AA Change: E86G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: E86G

Domain	Start	End	E-Value	Type
low complexity region	41	59	N/A	INTRINSIC
Mterf	104	134	1.62e2	SMART
Mterf	139	171	5.81e1	SMART
Mterf	176	206	3.63e0	SMART
Mterf	217	248	8.87e-4	SMART
Mterf	293	323	9.87e2	SMART
Mterf	324	354	1.1e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117463
AA Change: E86G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: E86G

Domain	Start	End	E-Value	Type
low complexity region	41	59	N/A	INTRINSIC
Mterf	104	134	1.62e2	SMART
Mterf	139	171	5.81e1	SMART
Mterf	176	206	3.63e0	SMART
Mterf	217	248	8.87e-4	SMART
Mterf	293	323	9.87e2	SMART
Mterf	324	354	1.1e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196417

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele of both Mterf1a and Mterf1b exhibit impaired transcription initiation at light-strand promoters resulting in a decrease of de novo transcription and reduced 7S RNA. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,320,595 (GRCm39)		probably benign	Het
Adamts19	T	A	18: 59,140,397 (GRCm39)		probably benign	Het
Afg3l1	T	A	8: 124,214,128 (GRCm39)	F190I	probably benign	Het
Alms1	T	A	6: 85,618,353 (GRCm39)	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,392,478 (GRCm39)	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,085,766 (GRCm39)	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,541,586 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,076,462 (GRCm39)	I416M	possibly damaging	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Dmbt1	A	T	7: 130,701,020 (GRCm39)	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,766 (GRCm39)	T3873A	probably damaging	Het
Endog	C	T	2: 30,062,912 (GRCm39)	T184M	probably damaging	Het
Fcgbp	T	C	7: 27,800,966 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,606,659 (GRCm39)	I1061T	probably benign	Het
Hdac2	T	A	10: 36,873,067 (GRCm39)	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,140,497 (GRCm39)	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,402,144 (GRCm39)	L263P	probably damaging	Het
Klf17	T	C	4: 117,618,235 (GRCm39)	T41A	probably benign	Het
Lrrfip1	T	C	1: 90,996,343 (GRCm39)	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,215,533 (GRCm39)	V614I	probably benign	Het
Mocs1	T	G	17: 49,742,292 (GRCm39)		probably null	Het
Moxd1	T	C	10: 24,158,453 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,574,613 (GRCm39)	D1021G	probably benign	Het
Nomo1	T	C	7: 45,694,760 (GRCm39)	S212P	possibly damaging	Het
Or5b116	A	G	19: 13,422,988 (GRCm39)	D204G	probably benign	Het
Or8c15	T	A	9: 38,120,534 (GRCm39)	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,178,374 (GRCm39)	T385P	probably damaging	Het
Piwil4	A	T	9: 14,626,327 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,818,619 (GRCm39)		probably null	Het
Prr14l	T	C	5: 32,988,410 (GRCm39)	I362V	probably benign	Het
Sergef	C	T	7: 46,284,844 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,572,511 (GRCm39)	D948G	probably damaging	Het
Skor1	A	T	9: 63,053,723 (GRCm39)	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086 (GRCm38)	Q87*	probably null	Het
Syde2	A	G	3: 145,720,096 (GRCm39)	K772E	possibly damaging	Het
Taf2	T	A	15: 54,934,845 (GRCm39)		probably null	Het
Tbc1d13	T	A	2: 30,030,523 (GRCm39)	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,591,722 (GRCm39)	F91L	probably benign	Het
Tmem63a	A	G	1: 180,794,062 (GRCm39)	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,782,882 (GRCm39)	N712K	possibly damaging	Het
Trip12	A	T	1: 84,708,262 (GRCm39)	D603E	probably damaging	Het
Trmt11	T	C	10: 30,442,445 (GRCm39)	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,453,958 (GRCm39)	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,132,755 (GRCm39)	H33R	probably benign	Het
Zfp207	A	G	11: 80,279,828 (GRCm39)	D111G	probably benign	Het

Other mutations in Mterf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Mterf1a	APN	5	3,941,809 (GRCm39)	missense	possibly damaging	0.88
IGL02420:Mterf1a	APN	5	3,941,047 (GRCm39)	missense	probably damaging	0.99
IGL02525:Mterf1a	APN	5	3,941,583 (GRCm39)	missense	probably benign	0.09
R0270:Mterf1a	UTSW	5	3,940,990 (GRCm39)	nonsense	probably null
R1170:Mterf1a	UTSW	5	3,940,964 (GRCm39)	missense	probably benign	0.16
R2386:Mterf1a	UTSW	5	3,941,225 (GRCm39)	missense	probably benign	0.00
R3417:Mterf1a	UTSW	5	3,940,795 (GRCm39)	missense	probably damaging	0.99
R4520:Mterf1a	UTSW	5	3,940,992 (GRCm39)	missense	probably damaging	0.99
R4573:Mterf1a	UTSW	5	3,941,119 (GRCm39)	missense	possibly damaging	0.72
R5068:Mterf1a	UTSW	5	3,941,854 (GRCm39)	missense	probably benign	0.00
R5111:Mterf1a	UTSW	5	3,941,860 (GRCm39)	missense	probably benign	0.00
R5152:Mterf1a	UTSW	5	3,940,984 (GRCm39)	missense	probably damaging	0.98
R6974:Mterf1a	UTSW	5	3,940,854 (GRCm39)	missense	probably benign	0.25
R7096:Mterf1a	UTSW	5	3,941,769 (GRCm39)	missense	probably damaging	0.99
R7545:Mterf1a	UTSW	5	3,940,995 (GRCm39)	missense	probably damaging	1.00
R7704:Mterf1a	UTSW	5	3,941,845 (GRCm39)	missense	probably benign
R8249:Mterf1a	UTSW	5	3,941,550 (GRCm39)	missense	probably damaging	1.00
R8385:Mterf1a	UTSW	5	3,941,384 (GRCm39)	missense	probably damaging	1.00
R8865:Mterf1a	UTSW	5	3,941,425 (GRCm39)	missense	probably damaging	1.00
R9280:Mterf1a	UTSW	5	3,941,539 (GRCm39)	missense	probably damaging	1.00
R9558:Mterf1a	UTSW	5	3,941,807 (GRCm39)	nonsense	probably null
R9559:Mterf1a	UTSW	5	3,941,807 (GRCm39)	nonsense	probably null

Posted On

2012-04-20