Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Mterf1a'

297013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mterf1a

Ensembl Gene

ENSMUSG00000040429

Gene Name

mitochondrial transcription termination factor 1a

Synonyms

9230106K09Rik, 4931431L11Rik, Mterf1, Mterf

Accession Numbers

Essential gene?

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

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

3940581-3943933 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3941583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 95 (S95F)

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: S95F

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: S95F

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: S95F

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: S95F

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

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,101,060 (GRCm39)	V701I	probably benign	Het
Adam18	A	G	8: 25,131,783 (GRCm39)		probably benign	Het
Adamts20	G	T	15: 94,180,959 (GRCm39)		probably null	Het
Adgrf5	G	T	17: 43,760,854 (GRCm39)	V850F	probably damaging	Het
Agap2	T	A	10: 126,919,070 (GRCm39)		probably null	Het
Ap4b1	G	A	3: 103,720,164 (GRCm39)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,540,169 (GRCm39)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,461,249 (GRCm39)	S529P	probably damaging	Het
Cilk1	A	G	9: 78,067,675 (GRCm39)	K390E	probably benign	Het
Col1a2	A	G	6: 4,531,355 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,344,743 (GRCm39)	Q138L	probably benign	Het
Dlc1	A	T	8: 37,046,800 (GRCm39)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,027,790 (GRCm39)	V682M	probably benign	Het
Dock9	C	T	14: 121,877,538 (GRCm39)	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,346,962 (GRCm39)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,027,634 (GRCm39)	H268R	probably benign	Het
Ermard	T	C	17: 15,279,601 (GRCm39)		probably benign	Het
Fam43a	A	G	16: 30,419,596 (GRCm39)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,389,494 (GRCm39)	D78V	probably damaging	Het
Gabrq	A	G	X: 71,880,430 (GRCm39)	T308A	possibly damaging	Het
Gipr	A	G	7: 18,893,690 (GRCm39)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,848,680 (GRCm39)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,739,907 (GRCm39)		probably benign	Het
Gm21759	T	C	5: 8,229,967 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,250 (GRCm39)		noncoding transcript	Het
Gspt1	A	G	16: 11,048,854 (GRCm39)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,319 (GRCm39)	S526G	probably benign	Het
Hey2	A	G	10: 30,718,643 (GRCm39)	M1T	probably null	Het
Hipk3	T	C	2: 104,301,757 (GRCm39)	D145G	probably damaging	Het
Itgae	A	G	11: 73,021,777 (GRCm39)	D886G	probably damaging	Het
Ktn1	T	A	14: 47,962,200 (GRCm39)		probably null	Het
Med12l	A	G	3: 58,975,789 (GRCm39)	K239R	probably benign	Het
Milr1	A	T	11: 106,656,101 (GRCm39)	M124L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Myef2	C	A	2: 124,955,978 (GRCm39)		probably benign	Het
Nfrkb	T	A	9: 31,325,812 (GRCm39)	I1085N	possibly damaging	Het
Or13f5	A	T	4: 52,825,616 (GRCm39)	Y73F	probably damaging	Het
Or8d2	T	A	9: 38,759,536 (GRCm39)	M42K	possibly damaging	Het
Prodh	G	A	16: 17,890,332 (GRCm39)	Q430*	probably null	Het
Pstk	G	T	7: 130,972,922 (GRCm39)	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067 (GRCm39)	E108D	probably benign	Het
Ptpn9	T	A	9: 56,944,009 (GRCm39)	Y294*	probably null	Het
Rnls	C	T	19: 33,115,614 (GRCm39)	V153M	possibly damaging	Het
Ros1	T	C	10: 51,992,138 (GRCm39)	T1362A	possibly damaging	Het
Samt3	G	A	X: 85,090,527 (GRCm39)	A140T	possibly damaging	Het
Sbpl	T	A	17: 24,173,837 (GRCm39)	M16L	unknown	Het
Sephs1	G	A	2: 4,911,407 (GRCm39)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,135 (GRCm39)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,551,051 (GRCm39)		probably benign	Het
Slc7a9	T	C	7: 35,152,860 (GRCm39)	S93P	probably damaging	Het
Slx4	A	G	16: 3,798,461 (GRCm39)	S1444P	probably damaging	Het
Spmap2l	T	A	5: 77,164,400 (GRCm39)	D134E	probably benign	Het
Stk32b	C	T	5: 37,688,977 (GRCm39)	V116M	probably damaging	Het
Supt5	A	G	7: 28,018,372 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,147,777 (GRCm39)	S6439T	probably damaging	Het
Taar7d	A	G	10: 23,903,994 (GRCm39)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm39)	I51F	probably damaging	Het
Tk2	A	T	8: 104,970,032 (GRCm39)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,413,865 (GRCm39)		probably benign	Het
Tnfrsf10b	T	C	14: 70,019,825 (GRCm39)	M319T	probably damaging	Het
Trim24	A	G	6: 37,922,653 (GRCm39)	R417G	probably damaging	Het
Ttn	C	A	2: 76,594,658 (GRCm39)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,901,447 (GRCm39)	T525A	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,703,296 (GRCm39)	R260W	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm39)	T218A	probably benign	Het
Znfx1	C	T	2: 166,879,457 (GRCm39)	E776K	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
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
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

Posted On

2015-04-16