Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Mterf3'

212878

Institutional Source

Beutler Lab

Gene Symbol

Mterf3

Ensembl Gene

ENSMUSG00000021519

Gene Name

mitochondrial transcription termination factor 3

Synonyms

2410017I18Rik, Mterfd1

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67055032-67081152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67078126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 48 (S48T)

Ref Sequence

ENSEMBL: ENSMUSP00000021991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021990] [ENSMUST00000021991] [ENSMUST00000172597] [ENSMUST00000173158] [ENSMUST00000173407] [ENSMUST00000174339] [ENSMUST00000173773] [ENSMUST00000224085] [ENSMUST00000224290] [ENSMUST00000173910] [ENSMUST00000224244]

AlphaFold

Q8R3J4

Predicted Effect

probably benign
Transcript: ENSMUST00000021990

SMART Domains

Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	72	89	N/A	INTRINSIC
Pfam:PSS	96	372	1.3e-108	PFAM
transmembrane domain	383	405	N/A	INTRINSIC
low complexity region	442	464	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000021991
AA Change: S48T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021991
Gene: ENSMUSG00000021519
AA Change: S48T

Domain	Start	End	E-Value	Type
low complexity region	97	117	N/A	INTRINSIC
Mterf	161	196	1.63e3	SMART
Mterf	201	231	7.37e-1	SMART
Mterf	236	267	4.68e-3	SMART
Mterf	272	303	2.12e-1	SMART
Mterf	308	339	4.11e1	SMART
Mterf	340	370	9.22e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172597
AA Change: S48T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133433
Gene: ENSMUSG00000021519
AA Change: S48T

Domain	Start	End	E-Value	Type
low complexity region	97	117	N/A	INTRINSIC
PDB:3OPG\|A	121	204	2e-40	PDB
Blast:Mterf	161	196	1e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173062

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173158
AA Change: S48T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134032
Gene: ENSMUSG00000021519
AA Change: S48T

Domain	Start	End	E-Value	Type
low complexity region	97	108	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173407
AA Change: S48T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133594
Gene: ENSMUSG00000021519
AA Change: S48T

Domain	Start	End	E-Value	Type
low complexity region	97	108	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174339
AA Change: S48T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134286
Gene: ENSMUSG00000021519
AA Change: S48T

Domain	Start	End	E-Value	Type
low complexity region	97	117	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173773
AA Change: S48T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174011

Predicted Effect

probably benign
Transcript: ENSMUST00000224085
AA Change: S48T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000224290

Predicted Effect

probably benign
Transcript: ENSMUST00000173910

SMART Domains

Protein: ENSMUSP00000133456
Gene: ENSMUSG00000021519

Domain	Start	End	E-Value	Type
low complexity region	23	41	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224244

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit embryonic growth retardation and die by E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,031 (GRCm39)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 35,817,414 (GRCm39)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,989,104 (GRCm39)	I74M	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Afm	A	T	5: 90,672,779 (GRCm39)	K205*	probably null	Het
Ankrd27	T	A	7: 35,332,410 (GRCm39)	S846T	probably benign	Het
Ano3	A	G	2: 110,715,352 (GRCm39)	S29P	probably benign	Het
Apaf1	C	T	10: 90,913,476 (GRCm39)	W138*	probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,850,221 (GRCm39)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,337,541 (GRCm39)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,092,340 (GRCm39)	T70I	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bltp1	A	G	3: 37,061,132 (GRCm39)		probably null	Het
Bspry	T	A	4: 62,413,034 (GRCm39)	C256S	probably damaging	Het
C3	C	A	17: 57,527,135 (GRCm39)	W771C	probably damaging	Het
Camkv	A	G	9: 107,824,287 (GRCm39)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,942,548 (GRCm39)	V109E	probably damaging	Het
Cd101	A	G	3: 100,926,233 (GRCm39)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,283,603 (GRCm39)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,516,457 (GRCm39)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,750,081 (GRCm39)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,918,594 (GRCm39)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,392,173 (GRCm39)	Q194*	probably null	Het
Daam2	T	C	17: 49,792,485 (GRCm39)	E361G	probably benign	Het
Dcaf17	A	T	2: 70,908,516 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,570,020 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm39)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm39)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,152,294 (GRCm39)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,517,756 (GRCm39)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpatch8	A	G	11: 102,398,968 (GRCm39)		probably null	Het
H2-M3	T	C	17: 37,582,080 (GRCm39)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,781,385 (GRCm39)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hrg	A	T	16: 22,773,207 (GRCm39)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 110,915,779 (GRCm39)	V147A	possibly damaging	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,731,642 (GRCm39)		probably benign	Het
Krt90	A	T	15: 101,465,665 (GRCm39)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,476,671 (GRCm39)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,618,741 (GRCm39)	T225K	probably benign	Het
Map1a	C	T	2: 121,137,493 (GRCm39)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,119,600 (GRCm39)	D193G	probably benign	Het
Mpped2	T	A	2: 106,697,377 (GRCm39)	I284N	probably damaging	Het
Msh6	A	G	17: 88,292,553 (GRCm39)	H436R	probably benign	Het
Muc5b	T	C	7: 141,399,768 (GRCm39)	F414L	unknown	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nherf4	T	C	9: 44,161,600 (GRCm39)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,295,055 (GRCm39)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm39)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,404,452 (GRCm39)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,704,111 (GRCm39)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,963,523 (GRCm39)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,843,618 (GRCm39)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Parp3	T	A	9: 106,352,316 (GRCm39)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,861,474 (GRCm39)	S936P	probably damaging	Het
Phkb	A	G	8: 86,648,790 (GRCm39)	E202G	probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Prss8	G	T	7: 127,529,030 (GRCm39)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,784,054 (GRCm39)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,450,430 (GRCm39)	K645*	probably null	Het
Robo2	C	T	16: 73,696,042 (GRCm39)	G1367D	probably benign	Het
Rp1	A	G	1: 4,422,894 (GRCm39)	V52A	probably damaging	Het
Samd13	T	C	3: 146,368,467 (GRCm39)	T23A	probably benign	Het
Scn7a	T	C	2: 66,530,317 (GRCm39)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,870,091 (GRCm39)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,937,196 (GRCm39)	R88L	probably damaging	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Slit2	C	A	5: 48,348,358 (GRCm39)		probably benign	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,408,595 (GRCm39)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,465,353 (GRCm39)	T334I	probably damaging	Het
Syt5	G	T	7: 4,543,278 (GRCm39)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tnks	A	T	8: 35,342,386 (GRCm39)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 87,073,859 (GRCm39)	T167A	probably benign	Het
Usp40	G	A	1: 87,923,564 (GRCm39)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,331,224 (GRCm39)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,689,969 (GRCm39)	S282P	possibly damaging	Het
Vps45	T	C	3: 95,953,752 (GRCm39)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably damaging	Het

Other mutations in Mterf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03106:Mterf3	APN	13	67,078,221 (GRCm39)	missense	probably damaging	1.00
R0630:Mterf3	UTSW	13	67,060,372 (GRCm39)	missense	probably damaging	1.00
R0636:Mterf3	UTSW	13	67,070,817 (GRCm39)	intron	probably benign
R1403:Mterf3	UTSW	13	67,077,944 (GRCm39)	unclassified	probably benign
R1447:Mterf3	UTSW	13	67,065,103 (GRCm39)	missense	probably damaging	1.00
R1573:Mterf3	UTSW	13	67,070,967 (GRCm39)	missense	possibly damaging	0.73
R2327:Mterf3	UTSW	13	67,076,258 (GRCm39)	missense	probably damaging	1.00
R5549:Mterf3	UTSW	13	67,076,321 (GRCm39)	missense	probably benign	0.32
R6590:Mterf3	UTSW	13	67,065,110 (GRCm39)	missense	probably damaging	1.00
R6690:Mterf3	UTSW	13	67,065,110 (GRCm39)	missense	probably damaging	1.00
R7599:Mterf3	UTSW	13	67,065,212 (GRCm39)	missense	probably damaging	1.00
R8297:Mterf3	UTSW	13	67,055,222 (GRCm39)	missense
R8890:Mterf3	UTSW	13	67,064,676 (GRCm39)	critical splice donor site	probably null
R9347:Mterf3	UTSW	13	67,062,852 (GRCm39)	missense	possibly damaging	0.75
R9799:Mterf3	UTSW	13	67,062,780 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGGCAGCTCTGATTCAAGAC -3'
(R):5'- GTTGGTAACTGAGACTGCCTG -3'

Sequencing Primer
(F):5'- GCAGCTCTGATTCAAGACTAAGTATC -3'
(R):5'- AACTGAGACTGCCTGTATTTTTGGC -3'

Posted On

2014-07-14