Mutagenetix > Incidental Mutation

Incidental Mutation 'R5111:Mterf1a'

393848

Institutional Source

Beutler Lab

Gene Symbol

Mterf1a

Ensembl Gene

ENSMUSG00000040429

Gene Name

mitochondrial transcription termination factor 1a

Synonyms

9230106K09Rik, 4931431L11Rik, Mterf1, Mterf

MMRRC Submission

042699-MU

Accession Numbers

Essential gene?

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

Stock #

R5111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3940581-3943933 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3941860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3 (S3P)

Ref Sequence

ENSEMBL: ENSMUSP00000113306 (fasta)

Gene Model

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

AlphaFold

Q8CHZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000044746
AA Change: S3P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: S3P

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 benign
Transcript: ENSMUST00000117463
AA Change: S3P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: S3P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (56/56)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 83,800,646 (GRCm39)	L136*	probably null	Het
Ankrd17	A	T	5: 90,390,858 (GRCm39)	S2271T	possibly damaging	Het
Arhgef10	A	G	8: 14,982,408 (GRCm39)	D179G	probably benign	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Btbd3	T	A	2: 138,120,829 (GRCm39)	M1K	probably null	Het
Capns1	A	G	7: 29,891,944 (GRCm39)	V106A	probably benign	Het
Ccnjl	A	G	11: 43,447,544 (GRCm39)	T76A	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Col6a6	C	T	9: 105,586,673 (GRCm39)	V1783I	possibly damaging	Het
Crisp3	T	C	17: 40,536,695 (GRCm39)	T207A	possibly damaging	Het
Crxos	G	A	7: 15,630,142 (GRCm39)		probably benign	Het
Csf3r	T	C	4: 125,923,861 (GRCm39)		probably null	Het
Cyp2a12	A	G	7: 26,736,046 (GRCm39)	Y485C	possibly damaging	Het
Echdc2	A	T	4: 108,026,994 (GRCm39)		probably benign	Het
Elp3	A	C	14: 65,797,685 (GRCm39)	Y329D	probably damaging	Het
Fbxw16	T	C	9: 109,265,796 (GRCm39)	D341G	probably benign	Het
H2-Ab1	T	A	17: 34,486,456 (GRCm39)	S172T	probably damaging	Het
Hyal2	T	C	9: 107,448,310 (GRCm39)	V321A	probably benign	Het
Ighv6-3	A	T	12: 114,355,394 (GRCm39)	S98R	probably benign	Het
Kank3	A	G	17: 34,037,155 (GRCm39)	E153G	possibly damaging	Het
Klrb1c	C	T	6: 128,762,968 (GRCm39)	R83H	probably benign	Het
Krtap16-1	T	C	11: 99,877,378 (GRCm39)	K9E	possibly damaging	Het
Liph	G	A	16: 21,802,820 (GRCm39)	S83F	probably damaging	Het
Lnpep	A	G	17: 17,798,872 (GRCm39)	I261T	possibly damaging	Het
Mdm2	A	T	10: 117,527,126 (GRCm39)	V273D	possibly damaging	Het
Myt1	A	G	2: 181,437,678 (GRCm39)	T172A	probably benign	Het
Nufip2	T	A	11: 77,582,669 (GRCm39)	S194R	probably benign	Het
Nusap1	T	A	2: 119,460,837 (GRCm39)	L110*	probably null	Het
Palb2	A	T	7: 121,716,528 (GRCm39)	C488*	probably null	Het
Pcdhac1	A	T	18: 37,224,558 (GRCm39)	N457I	probably damaging	Het
Per1	A	T	11: 68,991,612 (GRCm39)	S49C	probably damaging	Het
Ppargc1b	A	T	18: 61,443,558 (GRCm39)	I535N	probably damaging	Het
Rb1cc1	T	C	1: 6,284,858 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,601,728 (GRCm39)	L744Q	probably damaging	Het
Sdk1	A	G	5: 142,113,600 (GRCm39)	E1549G	probably damaging	Het
Tnr	C	T	1: 159,713,798 (GRCm39)	T742I	probably benign	Het
Trp53bp1	A	T	2: 121,041,868 (GRCm39)	H1229Q	probably damaging	Het
Unc80	A	G	1: 66,567,154 (GRCm39)	H920R	possibly damaging	Het
Urb1	A	C	16: 90,548,905 (GRCm39)	S2268A	probably benign	Het
Usp32	A	T	11: 84,968,157 (GRCm39)	Y169N	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,913 (GRCm39)	M527K	possibly damaging	Het
Vmn2r93	A	T	17: 18,546,326 (GRCm39)	I733F	probably damaging	Het
Vstm2l	A	G	2: 157,777,389 (GRCm39)	D89G	probably damaging	Het
Zdhhc8	G	T	16: 18,044,612 (GRCm39)	Q303K	probably benign	Het
Zfand2a	A	G	5: 139,459,509 (GRCm39)	V159A	probably benign	Het
Zswim6	A	G	13: 107,865,170 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- CGATATCAACGCCCATGGTG -3'
(R):5'- GCTTTAGATTAAGGTAGCCAGAAGC -3'

Sequencing Primer
(F):5'- CCCATGGTGACTAAGTTGCTCAG -3'
(R):5'- CAAAGAAATTAGTGTCTGTGGGC -3'

Posted On

2016-06-15