Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02754:Mterf1b'

306325

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mterf1b

Ensembl Gene

ENSMUSG00000053178

Gene Name

mitochondrial transcription termination factor 1b

Synonyms

Gm9897

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

IGL02754

Quality Score

Status

Chromosome

Chromosomal Location

4242367-4247651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4246478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 40 (F40L)

Ref Sequence

ENSEMBL: ENSMUSP00000135408 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177258
AA Change: F40L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135408
Gene: ENSMUSG00000053178
AA Change: F40L

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	T	A	9: 39,507,922 (GRCm39)	R405*	probably null	Het
AW551984	C	T	9: 39,504,624 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,197,481 (GRCm39)	E968G	possibly damaging	Het
Ccdc68	T	C	18: 70,076,935 (GRCm39)		probably null	Het
Ccdc87	T	A	19: 4,889,889 (GRCm39)	L127H	probably damaging	Het
Cdk5r1	G	T	11: 80,368,569 (GRCm39)	A79S	probably benign	Het
Cdyl	A	T	13: 35,867,725 (GRCm39)		probably benign	Het
Cfdp1	A	G	8: 112,580,766 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,111,339 (GRCm39)	I62F	probably damaging	Het
Cnot1	A	T	8: 96,481,706 (GRCm39)	I789K	probably benign	Het
Cobl	T	C	11: 12,204,371 (GRCm39)	K695R	probably damaging	Het
Cobl	C	A	11: 12,204,370 (GRCm39)	K752N	probably damaging	Het
Cstdc5	G	A	16: 36,179,899 (GRCm39)	P73S	probably benign	Het
Dcaf6	T	C	1: 165,165,915 (GRCm39)		probably null	Het
Ece2	A	T	16: 20,451,398 (GRCm39)	I197F	probably damaging	Het
Eif2b5	T	G	16: 20,321,536 (GRCm39)	V363G	possibly damaging	Het
Gca	T	C	2: 62,502,702 (GRCm39)	S37P	probably benign	Het
Ghsr	A	C	3: 27,426,645 (GRCm39)	I234L	probably damaging	Het
Grin3b	A	T	10: 79,808,723 (GRCm39)	I158F	possibly damaging	Het
Gtf2h2	A	T	13: 100,617,747 (GRCm39)	D178E	probably damaging	Het
Herc2	A	G	7: 55,747,246 (GRCm39)	E461G	probably damaging	Het
Hsph1	T	A	5: 149,547,057 (GRCm39)	N531I	possibly damaging	Het
Insl6	G	T	19: 29,302,529 (GRCm39)	Q63K	probably benign	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lvrn	C	T	18: 47,023,971 (GRCm39)	Q773*	probably null	Het
Nrg1	G	A	8: 32,316,391 (GRCm39)		probably benign	Het
Or10ak13	T	A	4: 118,639,117 (GRCm39)	I222F	possibly damaging	Het
Or1n1	T	A	2: 36,750,232 (GRCm39)	I43F	probably damaging	Het
Or5p79	T	C	7: 108,221,880 (GRCm39)	I287T	possibly damaging	Het
Pax5	C	T	4: 44,570,059 (GRCm39)	V319I	probably damaging	Het
Plcz1	T	A	6: 139,956,307 (GRCm39)	T321S	probably benign	Het
Plekha6	A	G	1: 133,212,676 (GRCm39)	E660G	probably damaging	Het
Prep	T	C	10: 44,943,428 (GRCm39)	M1T	probably null	Het
Prickle1	C	T	15: 93,399,034 (GRCm39)	S598N	possibly damaging	Het
Prtn3	A	G	10: 79,716,932 (GRCm39)	Q99R	probably benign	Het
Rad50	A	G	11: 53,592,883 (GRCm39)	V89A	probably damaging	Het
Ret	T	C	6: 118,153,213 (GRCm39)	Y485C	probably benign	Het
Setd2	T	A	9: 110,379,124 (GRCm39)	F980I	possibly damaging	Het
Slc44a4	A	G	17: 35,140,279 (GRCm39)	Y228C	probably damaging	Het
Tex10	C	T	4: 48,435,028 (GRCm39)	C779Y	possibly damaging	Het
Tfdp2	T	G	9: 96,199,592 (GRCm39)	S285A	probably benign	Het
Thsd4	T	A	9: 59,896,380 (GRCm39)		probably benign	Het
Tmem106a	A	C	11: 101,481,219 (GRCm39)	E242D	probably benign	Het
Ttc22	T	C	4: 106,495,669 (GRCm39)	V341A	probably benign	Het
Ubr4	T	A	4: 139,138,095 (GRCm39)	S1151T	probably damaging	Het
Ubr4	G	A	4: 139,120,470 (GRCm39)		probably null	Het
Vmn1r206	A	T	13: 22,805,060 (GRCm39)	L49*	probably null	Het
Vmn1r233	A	T	17: 21,214,887 (GRCm39)	F21Y	probably benign	Het
Vmn1r233	A	T	17: 21,214,886 (GRCm39)	F21L	probably benign	Het
Vmn2r15	A	T	5: 109,441,134 (GRCm39)	C241*	probably null	Het
Zmym6	T	A	4: 127,003,764 (GRCm39)		probably benign	Het

Other mutations in Mterf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Mterf1b	APN	5	4,246,503 (GRCm39)	missense	probably benign	0.01
R0410:Mterf1b	UTSW	5	4,246,488 (GRCm39)	missense	probably benign	0.41
R1474:Mterf1b	UTSW	5	4,247,163 (GRCm39)	missense	probably damaging	1.00
R1875:Mterf1b	UTSW	5	4,247,364 (GRCm39)	missense	possibly damaging	0.96
R2089:Mterf1b	UTSW	5	4,247,057 (GRCm39)	missense	possibly damaging	0.77
R2091:Mterf1b	UTSW	5	4,247,057 (GRCm39)	missense	possibly damaging	0.77
R2091:Mterf1b	UTSW	5	4,247,057 (GRCm39)	missense	possibly damaging	0.77
R4657:Mterf1b	UTSW	5	4,247,176 (GRCm39)	nonsense	probably null
R4689:Mterf1b	UTSW	5	4,247,263 (GRCm39)	nonsense	probably null
R5462:Mterf1b	UTSW	5	4,246,541 (GRCm39)	missense	probably benign	0.04
R5750:Mterf1b	UTSW	5	4,246,683 (GRCm39)	missense	probably damaging	1.00
R5813:Mterf1b	UTSW	5	4,246,956 (GRCm39)	missense	possibly damaging	0.92
R6028:Mterf1b	UTSW	5	4,247,666 (GRCm39)	splice site	probably null
R6248:Mterf1b	UTSW	5	4,246,606 (GRCm39)	missense	probably benign	0.02
R8814:Mterf1b	UTSW	5	4,247,456 (GRCm39)	missense	probably damaging	1.00
R8842:Mterf1b	UTSW	5	4,246,961 (GRCm39)	missense	possibly damaging	0.93
R8962:Mterf1b	UTSW	5	4,246,437 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16