Mutagenetix > Incidental Mutation

Incidental Mutation 'R8249:Mterf1a'

640320

Institutional Source

Beutler Lab

Gene Symbol

Mterf1a

Ensembl Gene

ENSMUSG00000040429

Gene Name

mitochondrial transcription termination factor 1a

Synonyms

9230106K09Rik, 4931431L11Rik, Mterf1, Mterf

MMRRC Submission

067649-MU

Accession Numbers

Essential gene?

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

Stock #

R8249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3940581-3943933 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3941550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 106 (I106S)

Ref Sequence

ENSEMBL: ENSMUSP00000046017 (fasta)

Gene Model

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

AlphaFold

Q8CHZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044746
AA Change: I106S

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

SMART Domains

Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: I106S

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: I106S

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

SMART Domains

Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: I106S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,360,971 (GRCm39)	S441P	probably benign	Het
Adck2	C	T	6: 39,562,667 (GRCm39)	R513*	probably null	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Arhgap12	A	T	18: 6,027,635 (GRCm39)	I736N	probably damaging	Het
AW554918	C	T	18: 25,472,775 (GRCm39)	T193I	probably benign	Het
Bscl2	T	C	19: 8,823,884 (GRCm39)	Y270H	probably damaging	Het
Btd	T	C	14: 31,387,905 (GRCm39)	Y112H	probably damaging	Het
Camk2d	C	T	3: 126,591,378 (GRCm39)	H283Y	probably damaging	Het
Cnga1	T	C	5: 72,762,737 (GRCm39)	Y259C	probably benign	Het
Dnm3	A	T	1: 162,305,312 (GRCm39)	C27*	probably null	Het
Fbxo48	T	A	11: 16,903,433 (GRCm39)	S20T	possibly damaging	Het
Fkbp6	A	G	5: 135,378,806 (GRCm39)	S14P	possibly damaging	Het
Gcfc2	T	C	6: 81,933,932 (GRCm39)	F730L	probably benign	Het
Gm136	C	A	4: 34,750,955 (GRCm39)	R106L	probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Grin2c	C	T	11: 115,144,663 (GRCm39)	R621Q	probably damaging	Het
H2-M11	T	A	17: 36,859,900 (GRCm39)	W298R	probably damaging	Het
Hars2	A	T	18: 36,921,054 (GRCm39)	I209F	probably damaging	Het
Hmcn1	A	T	1: 150,695,117 (GRCm39)	N262K	probably benign	Het
Hycc2	G	A	1: 58,573,796 (GRCm39)	S336L	probably benign	Het
Ifit1	T	A	19: 34,618,389 (GRCm39)		probably null	Het
Ighv1-85	T	C	12: 115,963,844 (GRCm39)	D52G	probably benign	Het
Kit	T	C	5: 75,802,068 (GRCm39)	V657A	probably damaging	Het
Krt32	T	C	11: 99,977,548 (GRCm39)	I173V	probably benign	Het
Lrfn3	GC	GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC	7: 30,059,298 (GRCm39)		probably null	Het
Lrp1	C	A	10: 127,441,412 (GRCm39)	S237I	probably benign	Het
Map3k9	T	C	12: 81,827,551 (GRCm39)	D33G	unknown	Het
Mroh7	T	C	4: 106,578,409 (GRCm39)	T90A	probably benign	Het
Mtrf1	C	A	14: 79,638,919 (GRCm39)	A17E	probably benign	Het
Musk	T	G	4: 58,368,926 (GRCm39)	L635R	probably damaging	Het
Naxe	A	T	3: 87,965,695 (GRCm39)	W35R	possibly damaging	Het
Nlrp9c	T	A	7: 26,074,778 (GRCm39)	K806*	probably null	Het
Pi4k2a	A	G	19: 42,103,501 (GRCm39)	E337G	probably benign	Het
Pwwp2b	G	T	7: 138,834,759 (GRCm39)	G67C	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Scn10a	T	A	9: 119,446,840 (GRCm39)	Y1396F	probably damaging	Het
Sdk1	A	T	5: 142,173,770 (GRCm39)		probably null	Het
Serpina1f	C	T	12: 103,660,027 (GRCm39)	G85E	probably damaging	Het
Tceanc2	G	A	4: 107,036,190 (GRCm39)		probably benign	Het
Tmem156	T	A	5: 65,232,969 (GRCm39)	R186*	probably null	Het
Trbv16	A	G	6: 41,128,932 (GRCm39)	T39A	possibly damaging	Het
Tti1	C	G	2: 157,842,635 (GRCm39)	S798T	probably benign	Het
Unc80	A	T	1: 66,658,650 (GRCm39)	M1656L	probably benign	Het
Wnt2	C	A	6: 18,030,284 (GRCm39)	M1I	probably null	Het

Other mutations in Mterf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Mterf1a	APN	5	3,941,610 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCAACAGTCTGCAGAGG -3'
(R):5'- CATTCAGGCCGTTTAGTGCG -3'

Sequencing Primer
(F):5'- GCAGAGGCATTTATGAGTCAATCC -3'
(R):5'- CGACAGTAAGGACAAGGAGTCTTTG -3'

Posted On

2020-07-28