Mutagenetix > Incidental Mutation

Incidental Mutation 'R4726:Mterf4'

358437

Institutional Source

Beutler Lab

Gene Symbol

Mterf4

Ensembl Gene

ENSMUSG00000026273

Gene Name

mitochondrial transcription termination factor 4

Synonyms

4933412H03Rik, Mterfd2, 1810059A23Rik

MMRRC Submission

041989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93228927-93233601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93229471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 251 (T251M)

Ref Sequence

ENSEMBL: ENSMUSP00000027492 (fasta)

Gene Model

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

AlphaFold

Q8BVN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027492
AA Change: T251M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: T251M

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: 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 benign
Transcript: ENSMUST00000112942

SMART Domains

Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273

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 benign
Transcript: ENSMUST00000112944

SMART Domains

Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273

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: ENSMUST00000136754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189856

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,448 (GRCm39)	S52G	probably null	Het
Abcc2	T	C	19: 43,820,553 (GRCm39)	S1351P	probably benign	Het
Acp2	T	A	2: 91,034,622 (GRCm39)	L87Q	probably damaging	Het
Adgrl3	C	A	5: 81,794,425 (GRCm39)	T550K	possibly damaging	Het
Amotl2	A	G	9: 102,601,018 (GRCm39)	R329G	probably benign	Het
Angel1	T	C	12: 86,768,649 (GRCm39)	N278S	probably damaging	Het
Ankrd12	A	C	17: 66,277,319 (GRCm39)	M1985R	probably damaging	Het
Apob	T	A	12: 8,040,267 (GRCm39)	F535I	probably damaging	Het
Art3	A	G	5: 92,559,002 (GRCm39)	K313R	probably benign	Het
Asxl2	C	T	12: 3,551,872 (GRCm39)	H1205Y	possibly damaging	Het
Bsph1	A	T	7: 13,206,920 (GRCm39)	M99L	probably benign	Het
Ccdc153	T	C	9: 44,154,963 (GRCm39)		probably null	Het
Cdh16	A	T	8: 105,342,664 (GRCm39)	M28K	probably damaging	Het
Cdhr2	T	C	13: 54,866,352 (GRCm39)	F353L	probably damaging	Het
Chrna2	G	T	14: 66,386,345 (GRCm39)	V164L	possibly damaging	Het
Cip2a	A	G	16: 48,834,433 (GRCm39)	T672A	probably benign	Het
Ckmt1	T	C	2: 121,191,712 (GRCm39)		probably null	Het
Col25a1	A	T	3: 130,313,430 (GRCm39)	E280V	possibly damaging	Het
Dnajc12	A	G	10: 63,233,087 (GRCm39)	D76G	probably damaging	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Ecpas	A	G	4: 58,844,191 (GRCm39)	V525A	probably damaging	Het
Ehbp1l1	C	A	19: 5,769,204 (GRCm39)	A700S	possibly damaging	Het
Gab1	T	C	8: 81,515,682 (GRCm39)	D212G	possibly damaging	Het
Gm26996	A	G	6: 130,557,134 (GRCm39)		noncoding transcript	Het
Gm28113	A	G	15: 75,198,577 (GRCm39)		noncoding transcript	Het
Has3	T	C	8: 107,604,718 (GRCm39)	F308S	probably damaging	Het
Ifit3b	T	A	19: 34,588,860 (GRCm39)	I12N	probably benign	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Ints3	A	G	3: 90,301,084 (GRCm39)	S840P	probably damaging	Het
Itih4	T	C	14: 30,611,792 (GRCm39)	V132A	probably damaging	Het
Itprid2	T	A	2: 79,493,101 (GRCm39)	I1216N	probably damaging	Het
Kcnj10	A	G	1: 172,196,639 (GRCm39)	Y51C	probably damaging	Het
Klk1b24	G	A	7: 43,839,820 (GRCm39)	V60I	probably damaging	Het
Klra14-ps	C	A	6: 130,134,626 (GRCm39)		noncoding transcript	Het
Krt6b	A	G	15: 101,586,520 (GRCm39)	I323T	probably damaging	Het
Lilra5	A	C	7: 4,240,957 (GRCm39)	Q17P	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k4	T	C	17: 12,451,851 (GRCm39)	N1479S	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,256 (GRCm39)	I194F	probably damaging	Het
Megf10	T	C	18: 57,420,864 (GRCm39)	I834T	probably benign	Het
Mtmr3	A	T	11: 4,457,634 (GRCm39)	D170E	probably damaging	Het
Myom3	C	T	4: 135,534,586 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,530,462 (GRCm39)	V305I	probably benign	Het
Nlrp1b	G	T	11: 71,072,232 (GRCm39)	T537K	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5b3	T	A	19: 13,388,469 (GRCm39)	C179S	probably damaging	Het
Or6c206	A	G	10: 129,097,045 (GRCm39)	T72A	possibly damaging	Het
Or8k28	A	G	2: 86,286,580 (GRCm39)	F12L	possibly damaging	Het
Pias1	A	G	9: 62,827,771 (GRCm39)	V212A	probably damaging	Het
Plscr1	T	A	9: 92,145,221 (GRCm39)	V77D	probably damaging	Het
Plxna1	T	C	6: 89,299,798 (GRCm39)	N1657S	probably damaging	Het
Ptprf	A	G	4: 118,069,414 (GRCm39)	V1551A	possibly damaging	Het
Ptprn2	C	A	12: 117,211,393 (GRCm39)	Y857*	probably null	Het
Puf60	A	T	15: 75,944,183 (GRCm39)		probably null	Het
Rnf20	C	T	4: 49,654,579 (GRCm39)	R879*	probably null	Het
Robo1	G	A	16: 72,768,931 (GRCm39)	A499T	probably damaging	Het
Slc39a14	A	G	14: 70,551,048 (GRCm39)		probably null	Het
Smarcad1	A	T	6: 65,052,025 (GRCm39)	H6L	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Stk39	T	A	2: 68,093,647 (GRCm39)	D488V	probably damaging	Het
Stx19	A	G	16: 62,642,495 (GRCm39)	N104D	probably benign	Het
Tcstv1b	A	T	13: 120,635,173 (GRCm39)	S152C	possibly damaging	Het
Tmem222	T	C	4: 133,004,975 (GRCm39)	M21V	probably benign	Het
Trim43b	T	A	9: 88,971,538 (GRCm39)	N205I	possibly damaging	Het
Ubr4	C	A	4: 139,209,890 (GRCm39)	H5017N	possibly damaging	Het
Vmn2r93	A	G	17: 18,536,960 (GRCm39)	T548A	probably damaging	Het
Vps8	G	A	16: 21,267,154 (GRCm39)		probably null	Het
Wasl	A	G	6: 24,633,110 (GRCm39)	V176A	probably benign	Het
Wbp2nl	T	A	15: 82,190,255 (GRCm39)	V61E	probably damaging	Het
Zfp959	T	A	17: 56,205,260 (GRCm39)		probably null	Het
Zmiz1	T	C	14: 25,644,098 (GRCm39)		probably null	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
IGL02812:Mterf4	APN	1	93,232,455 (GRCm39)	missense	probably damaging	1.00
R4083:Mterf4	UTSW	1	93,232,380 (GRCm39)	missense	possibly damaging	0.85
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

Predicted Primers

PCR Primer
(F):5'- AACTTGAAACTCCTCGACAGAG -3'
(R):5'- AAGTATATCCCTGTATGCCCCTTTG -3'

Sequencing Primer
(F):5'- CTCGACAGAGGAACAGGCTGTC -3'
(R):5'- TCTCAGCTTGAATTTGGAAATGC -3'

Posted On

2015-11-11