Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Mterf1a'

703548

Institutional Source

Beutler Lab

Gene Symbol

Mterf1a

Ensembl Gene

ENSMUSG00000040429

Gene Name

mitochondrial transcription termination factor 1a

Synonyms

9230106K09Rik, 4931431L11Rik, Mterf1, Mterf

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9280 (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 T at 3941539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 110 (Y110N)

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: Y110N

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

SMART Domains

Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: Y110N

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: Y110N

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

SMART Domains

Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: Y110N

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	G	T	6: 125,039,938 (GRCm39)	V514L	probably damaging	Het
Actl11	A	G	9: 107,808,573 (GRCm39)	I965M	probably damaging	Het
Ank3	A	T	10: 69,818,021 (GRCm39)	S1468C	possibly damaging	Het
Aoc1l1	A	G	6: 48,955,116 (GRCm39)	D652G	possibly damaging	Het
Apobec3	A	C	15: 79,791,082 (GRCm39)	N392T		Het
Ccdc33	A	T	9: 57,965,549 (GRCm39)	M591K	probably benign	Het
Ccdc39	T	C	3: 33,870,153 (GRCm39)	E689G	probably damaging	Het
Cnot1	A	T	8: 96,497,227 (GRCm39)	M250K	probably benign	Het
Crppa	T	A	12: 36,571,975 (GRCm39)	S344R	probably benign	Het
Ctbs	A	T	3: 146,160,142 (GRCm39)	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,189,255 (GRCm39)	I1540V	possibly damaging	Het
Dnah8	A	T	17: 31,004,071 (GRCm39)	Q3651H	possibly damaging	Het
Eif2a	A	G	3: 58,447,009 (GRCm39)		probably benign	Het
Entpd2	A	G	2: 25,289,511 (GRCm39)	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,314,774 (GRCm39)	P168S	probably damaging	Het
Fam76b	A	T	9: 13,751,012 (GRCm39)	H302L	possibly damaging	Het
Fancm	A	G	12: 65,153,612 (GRCm39)	E1356G	probably benign	Het
Fat2	G	A	11: 55,201,523 (GRCm39)	T517I	probably benign	Het
Glul	T	C	1: 153,783,611 (GRCm39)	C269R	probably benign	Het
Gm3404	C	T	5: 146,462,756 (GRCm39)	H40Y	possibly damaging	Het
Grb7	T	C	11: 98,345,248 (GRCm39)	F435S	probably damaging	Het
Ide	A	T	19: 37,295,490 (GRCm39)	Y191N		Het
Ide	T	C	19: 37,307,801 (GRCm39)		probably benign	Het
Ighv6-3	T	A	12: 114,355,420 (GRCm39)	T90S	probably damaging	Het
Il23r	A	G	6: 67,429,410 (GRCm39)	C311R	probably damaging	Het
Ilf2	A	G	3: 90,394,922 (GRCm39)	E390G	unknown	Het
Ints1	C	T	5: 139,750,469 (GRCm39)	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,850,736 (GRCm39)	E289G	probably benign	Het
Kbtbd2	G	A	6: 56,755,997 (GRCm39)	R580W	probably damaging	Het
Kif21b	T	C	1: 136,099,445 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,812 (GRCm39)	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,292 (GRCm39)	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,439,828 (GRCm39)	T429A	probably benign	Het
Myh4	G	A	11: 67,146,135 (GRCm39)	A1398T	probably damaging	Het
Nr3c2	T	A	8: 77,635,973 (GRCm39)	M358K	probably benign	Het
Nup50l	A	C	6: 96,141,982 (GRCm39)	L354R	probably damaging	Het
Or5d14	A	T	2: 87,880,458 (GRCm39)	F170Y	probably damaging	Het
Or5g25	G	A	2: 85,478,504 (GRCm39)	R54*	probably null	Het
Or7e173	A	C	9: 19,938,639 (GRCm39)	S198R	probably benign	Het
Otof	A	G	5: 30,528,894 (GRCm39)	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,675,533 (GRCm39)	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,607,794 (GRCm39)	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,585 (GRCm39)	L585P	probably damaging	Het
Pde1c	A	T	6: 56,114,505 (GRCm39)	S469R	probably benign	Het
Pla2g6	A	G	15: 79,197,314 (GRCm39)	F87L	probably benign	Het
Rag2	A	T	2: 101,460,145 (GRCm39)	M152L	probably benign	Het
Rasa1	C	T	13: 85,436,732 (GRCm39)	A99T	unknown	Het
Rasgrp1	T	C	2: 117,113,132 (GRCm39)	N760S	probably benign	Het
Rgsl1	A	T	1: 153,669,898 (GRCm39)	M232K	probably benign	Het
Ryr1	G	A	7: 28,802,389 (GRCm39)	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,282,325 (GRCm39)	S50P	probably damaging	Het
Slc25a36	A	C	9: 96,982,233 (GRCm39)	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,401,003 (GRCm39)	I127F	probably benign	Het
Slco1a8	A	G	6: 141,939,978 (GRCm39)	L175P	possibly damaging	Het
Sntb1	T	C	15: 55,769,771 (GRCm39)	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,680,268 (GRCm39)		probably benign	Het
Tll2	T	A	19: 41,077,309 (GRCm39)	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,290,809 (GRCm39)	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,510,830 (GRCm39)	R11G		Het
Ubash3b	A	C	9: 41,072,877 (GRCm39)	I12S	unknown	Het
Usp37	T	C	1: 74,489,699 (GRCm39)	K828E	probably damaging	Het
Usp8	G	C	2: 126,561,944 (GRCm39)	S46T	unknown	Het
Zfp418	A	G	7: 7,184,408 (GRCm39)	T124A	possibly damaging	Het
Zfp87	T	C	13: 74,520,803 (GRCm39)	T92A	probably benign	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
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
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'- TCATTCAGGCCGTTTAGTGC -3'

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

Posted On

2022-03-25