Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:Mterf1b'

672598

Institutional Source

Beutler Lab

Gene Symbol

Mterf1b

Ensembl Gene

ENSMUSG00000053178

Gene Name

mitochondrial transcription termination factor 1b

Synonyms

Gm9897

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4192367-4197651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4197456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 366 (S366P)

Ref Sequence

ENSEMBL: ENSMUSP00000135408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177258]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000177258
AA Change: S366P

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

SMART Domains

Protein: ENSMUSP00000135408
Gene: ENSMUSG00000053178
AA Change: S366P

Domain	Start	End	E-Value	Type
low complexity region	43	61	N/A	INTRINSIC
Mterf	106	136	1.62e2	SMART
Mterf	141	173	5.81e1	SMART
Mterf	178	208	3.63e0	SMART
Mterf	219	250	8.87e-4	SMART
Mterf	295	325	9.87e2	SMART
Mterf	326	356	1.1e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	C	6: 129,325,604		probably benign	Het
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hace1	A	G	10: 45,652,701	Y346C	probably damaging	Het
Hemgn	G	T	4: 46,400,717	Q48K	possibly damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Lmntd2	G	A	7: 141,210,084	R672W	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Pcdh8	A	G	14: 79,768,897	L742P	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het
Zfp26	A	T	9: 20,438,434	V278D	probably benign	Het

Other mutations in Mterf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Mterf1b	APN	5	4196503	missense	probably benign	0.01
IGL02754:Mterf1b	APN	5	4196478	missense	possibly damaging	0.93
R0410:Mterf1b	UTSW	5	4196488	missense	probably benign	0.41
R1474:Mterf1b	UTSW	5	4197163	missense	probably damaging	1.00
R1875:Mterf1b	UTSW	5	4197364	missense	possibly damaging	0.96
R2089:Mterf1b	UTSW	5	4197057	missense	possibly damaging	0.77
R2091:Mterf1b	UTSW	5	4197057	missense	possibly damaging	0.77
R2091:Mterf1b	UTSW	5	4197057	missense	possibly damaging	0.77
R4657:Mterf1b	UTSW	5	4197176	nonsense	probably null
R4689:Mterf1b	UTSW	5	4197263	nonsense	probably null
R5462:Mterf1b	UTSW	5	4196541	missense	probably benign	0.04
R5750:Mterf1b	UTSW	5	4196683	missense	probably damaging	1.00
R5813:Mterf1b	UTSW	5	4196956	missense	possibly damaging	0.92
R6028:Mterf1b	UTSW	5	4197666	splice site	probably null
R6248:Mterf1b	UTSW	5	4196606	missense	probably benign	0.02
R8842:Mterf1b	UTSW	5	4196961	missense	possibly damaging	0.93
R8962:Mterf1b	UTSW	5	4196437	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTATCTGAATATGGTCTTCTTGTC -3'
(R):5'- ACATGTGTCTGCTGTGAAAAGTC -3'

Sequencing Primer
(F):5'- CGAGGATTTTAGACTCCAGC -3'
(R):5'- CATGACTAAGTTGGTCCCTGGAAC -3'

Posted On

2021-04-30