Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02812:Mterf4'

360605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mterf4

Ensembl Gene

ENSMUSG00000026273

Gene Name

mitochondrial transcription termination factor 4

Synonyms

4933412H03Rik, Mterfd2, 1810059A23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02812

Quality Score

Status

Chromosome

Chromosomal Location

93228927-93233601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93232455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 132 (L132P)

Ref Sequence

ENSEMBL: ENSMUSP00000108566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027492] [ENSMUST00000027493] [ENSMUST00000062202] [ENSMUST00000112942] [ENSMUST00000112944]

AlphaFold

Q8BVN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027492
AA Change: L132P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: L132P

Domain	Start	End	E-Value	Type
low complexity region	124	136	N/A	INTRINSIC
Mterf	142	172	1.28e2	SMART
Mterf	177	208	1.1e1	SMART
Mterf	213	244	3.89e0	SMART
Mterf	246	274	2.06e2	SMART
low complexity region	323	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000027493

SMART Domains

Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274

Domain	Start	End	E-Value	Type
PAS	119	186	3.87e-8	SMART
PAS	333	400	3.08e-2	SMART
low complexity region	907	918	N/A	INTRINSIC
low complexity region	1043	1054	N/A	INTRINSIC
S_TKc	1059	1311	8.16e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062202

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
NIDO	103	260	2.98e-54	SMART
EGF	271	309	3.79e-6	SMART
EGF_CA	311	347	2.42e-13	SMART
EGF	352	385	1.02e-6	SMART
EGF_CA	387	423	1.91e-11	SMART
EGF	432	465	2.96e-8	SMART
EGF	471	500	6.02e0	SMART
EGF	544	577	3.54e-6	SMART
EGF	583	616	6.06e-5	SMART
EGF_CA	619	655	2.33e-6	SMART
EGF	660	693	1.77e-6	SMART
CCP	698	751	2.5e-11	SMART
EGF_CA	753	789	1.66e-11	SMART
EGF_CA	791	827	1.38e-8	SMART
EGF_CA	829	865	1.92e-7	SMART
EGF	870	903	2.35e-2	SMART
FN3	906	991	1.7e-4	SMART
FN3	1005	1084	1.38e-4	SMART
FN3	1104	1185	1.6e-9	SMART
EGF	1309	1342	6.16e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112942
AA Change: L132P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: L132P

Domain	Start	End	E-Value	Type
PDB:4FP9\|H	50	235	7e-55	PDB
Blast:Mterf	142	167	1e-7	BLAST
Blast:Mterf	178	208	8e-13	BLAST
Blast:Mterf	213	235	6e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000112944
AA Change: L132P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: L132P

Domain	Start	End	E-Value	Type
PDB:4FP9\|H	50	235	6e-54	PDB
Blast:Mterf	142	167	6e-8	BLAST
Blast:Mterf	178	208	2e-12	BLAST
Blast:Mterf	213	235	1e-7	BLAST
low complexity region	253	273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188069

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with decreased embryo size, lack of heart, and absence of optic discs. [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
Abca7	G	T	10: 79,841,881 (GRCm39)	V1005L	possibly damaging	Het
Abcc9	A	G	6: 142,643,516 (GRCm39)	S11P	possibly damaging	Het
Acsl1	A	T	8: 46,945,873 (GRCm39)	E2V	possibly damaging	Het
Aox3	G	A	1: 58,205,055 (GRCm39)	V757I	probably benign	Het
Aqp4	T	C	18: 15,530,632 (GRCm39)		probably null	Het
Arhgef7	A	G	8: 11,831,245 (GRCm39)		probably benign	Het
Armc9	T	A	1: 86,172,293 (GRCm39)	D2E	probably damaging	Het
Celsr2	G	A	3: 108,321,429 (GRCm39)	P461L	probably benign	Het
Cep170	T	C	1: 176,570,080 (GRCm39)	D1339G	probably damaging	Het
Clk1	T	A	1: 58,453,635 (GRCm39)	N317I	probably damaging	Het
Comp	G	A	8: 70,829,337 (GRCm39)	G305S	possibly damaging	Het
Depdc5	G	A	5: 33,050,712 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,059,712 (GRCm39)	E131G	probably damaging	Het
Ecpas	T	A	4: 58,864,343 (GRCm39)		probably benign	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Epha2	A	G	4: 141,046,230 (GRCm39)		probably benign	Het
Fam243	A	G	16: 92,117,616 (GRCm39)	I224T	probably damaging	Het
Fmnl1	A	G	11: 103,087,592 (GRCm39)		probably benign	Het
Gbp9	T	C	5: 105,231,624 (GRCm39)	N321D	probably damaging	Het
Gm5884	A	G	6: 128,622,738 (GRCm39)		noncoding transcript	Het
Gp2	A	T	7: 119,051,452 (GRCm39)	N254K	probably benign	Het
Hgh1	T	A	15: 76,253,754 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,284,030 (GRCm39)	N543S	probably damaging	Het
Ints7	T	C	1: 191,351,853 (GRCm39)	V854A	probably damaging	Het
Itgb1bp1	T	G	12: 21,320,879 (GRCm39)		probably benign	Het
Lrrtm4	A	T	6: 79,998,947 (GRCm39)	N120Y	probably damaging	Het
Map3k5	T	C	10: 19,900,782 (GRCm39)	S319P	probably damaging	Het
Mc4r	A	G	18: 66,992,318 (GRCm39)	L265S	probably damaging	Het
Morc1	T	C	16: 48,378,869 (GRCm39)		probably benign	Het
Mre11a	T	A	9: 14,701,966 (GRCm39)		probably null	Het
Msh4	T	C	3: 153,607,037 (GRCm39)		probably benign	Het
Myo15a	A	T	11: 60,368,005 (GRCm39)	E255V	probably benign	Het
Myot	T	C	18: 44,479,127 (GRCm39)	V288A	probably damaging	Het
Nipa2	T	C	7: 55,592,766 (GRCm39)	Y53C	probably damaging	Het
Npas1	T	A	7: 16,190,041 (GRCm39)	I502F	probably damaging	Het
Or12j5	C	T	7: 140,083,533 (GRCm39)	V280M	probably damaging	Het
Or2y1d	T	A	11: 49,321,749 (GRCm39)	W149R	probably damaging	Het
Osbp2	A	G	11: 3,664,637 (GRCm39)	V565A	probably benign	Het
Otof	A	G	5: 30,531,426 (GRCm39)	S1666P	probably benign	Het
Per3	A	C	4: 151,108,927 (GRCm39)	S476A	probably damaging	Het
Pja2	T	C	17: 64,604,789 (GRCm39)	N465D	probably damaging	Het
Pla2g4c	T	C	7: 13,082,290 (GRCm39)	F512S	probably damaging	Het
Plcd4	T	A	1: 74,596,967 (GRCm39)	L403Q	probably damaging	Het
Psg26	T	C	7: 18,209,080 (GRCm39)	T443A	probably benign	Het
Snapc4	T	A	2: 26,259,384 (GRCm39)	T589S	probably benign	Het
Spag8	G	A	4: 43,651,755 (GRCm39)	R404W	probably damaging	Het
Tdrd7	A	G	4: 45,994,406 (GRCm39)	D268G	probably benign	Het
Tfap2d	A	G	1: 19,213,151 (GRCm39)	H325R	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,176 (GRCm39)	V195I	probably damaging	Het
Vmn1r67	G	A	7: 10,180,945 (GRCm39)	E70K	probably benign	Het
Wdr18	T	A	10: 79,796,898 (GRCm39)	N91K	possibly damaging	Het
Zbtb7b	T	C	3: 89,287,081 (GRCm39)	T463A	probably damaging	Het

Other mutations in Mterf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Mterf4	APN	1	93,232,812 (GRCm39)	missense	possibly damaging	0.83
IGL01686:Mterf4	APN	1	93,232,443 (GRCm39)	nonsense	probably null
IGL01770:Mterf4	APN	1	93,232,716 (GRCm39)	missense	probably damaging	1.00
IGL01801:Mterf4	APN	1	93,232,642 (GRCm39)	missense	probably benign	0.02
IGL01881:Mterf4	APN	1	93,232,363 (GRCm39)	missense	probably damaging	1.00
IGL02393:Mterf4	APN	1	93,230,601 (GRCm39)	missense	possibly damaging	0.81
IGL02413:Mterf4	APN	1	93,230,526 (GRCm39)	missense	probably damaging	1.00
R4083:Mterf4	UTSW	1	93,232,380 (GRCm39)	missense	possibly damaging	0.85
R4726:Mterf4	UTSW	1	93,229,471 (GRCm39)	missense	probably damaging	0.98
R4926:Mterf4	UTSW	1	93,232,647 (GRCm39)	missense	probably benign	0.05
R6091:Mterf4	UTSW	1	93,229,291 (GRCm39)	missense	probably damaging	1.00
R7065:Mterf4	UTSW	1	93,232,617 (GRCm39)	missense	probably benign	0.01
R7780:Mterf4	UTSW	1	93,232,689 (GRCm39)	missense	probably benign	0.01
R7922:Mterf4	UTSW	1	93,229,275 (GRCm39)	nonsense	probably null
R9083:Mterf4	UTSW	1	93,229,515 (GRCm39)	nonsense	probably null
R9539:Mterf4	UTSW	1	93,229,188 (GRCm39)	missense	unknown
X0065:Mterf4	UTSW	1	93,229,420 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18