Mutagenetix > Incidental Mutation

Incidental Mutation 'R5549:Mterf3'

435056

Institutional Source

Beutler Lab

Gene Symbol

Mterf3

Ensembl Gene

ENSMUSG00000021519

Gene Name

mitochondrial transcription termination factor 3

Synonyms

2410017I18Rik, Mterfd1

MMRRC Submission

043106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5549 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67055032-67081152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67076321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 129 (A129S)

Ref Sequence

ENSEMBL: ENSMUSP00000152951 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000021991
AA Change: A129S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021991
Gene: ENSMUSG00000021519
AA Change: A129S

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 benign
Transcript: ENSMUST00000172597
AA Change: A129S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133433
Gene: ENSMUSG00000021519
AA Change: A129S

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

unknown
Transcript: ENSMUST00000173158
AA Change: C117F

SMART Domains

Protein: ENSMUSP00000134032
Gene: ENSMUSG00000021519
AA Change: C117F

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

Predicted Effect

unknown
Transcript: ENSMUST00000173407
AA Change: C117F

SMART Domains

Protein: ENSMUSP00000133594
Gene: ENSMUSG00000021519
AA Change: C117F

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

Predicted Effect

unknown
Transcript: ENSMUST00000173910
AA Change: L36F

SMART Domains

Protein: ENSMUSP00000133456
Gene: ENSMUSG00000021519
AA Change: L36F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174011

Predicted Effect

probably benign
Transcript: ENSMUST00000224085
AA Change: A129S

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000224244

Predicted Effect

probably benign
Transcript: ENSMUST00000173773

Predicted Effect

probably benign
Transcript: ENSMUST00000174339

SMART Domains

Protein: ENSMUSP00000134286
Gene: ENSMUSG00000021519

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,993 (GRCm39)	E324G	possibly damaging	Het
Acad8	C	T	9: 26,896,847 (GRCm39)	R204Q	probably damaging	Het
Adgrg7	T	G	16: 56,570,790 (GRCm39)	T413P	probably damaging	Het
Ankrd11	A	G	8: 123,617,117 (GRCm39)	I2224T	probably benign	Het
Arhgap23	A	G	11: 97,357,394 (GRCm39)	D964G	probably damaging	Het
Atf6b	A	G	17: 34,870,657 (GRCm39)	D367G	probably damaging	Het
Axdnd1	A	G	1: 156,226,104 (GRCm39)	L131P	probably damaging	Het
Bmp8b	T	C	4: 123,018,278 (GRCm39)	V383A	probably damaging	Het
C5ar2	A	G	7: 15,970,868 (GRCm39)	V353A	probably damaging	Het
Ccr5	C	A	9: 123,925,408 (GRCm39)	A337E	probably benign	Het
Cftr	G	A	6: 18,227,953 (GRCm39)	V382I	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Cyp2d12	A	G	15: 82,440,498 (GRCm39)	T96A	probably benign	Het
Diaph3	T	G	14: 87,216,106 (GRCm39)	I465L	probably benign	Het
Fabp3	A	G	4: 130,209,018 (GRCm39)	*134W	probably null	Het
Fgf22	G	T	10: 79,592,696 (GRCm39)	M130I	probably damaging	Het
Flnc	G	A	6: 29,453,690 (GRCm39)	V1792M	probably damaging	Het
Grik3	G	A	4: 125,579,838 (GRCm39)	A528T	possibly damaging	Het
Hecw2	G	A	1: 53,964,850 (GRCm39)	R659W	possibly damaging	Het
Hmbs	C	T	9: 44,250,774 (GRCm39)		probably null	Het
Ift122	T	G	6: 115,868,983 (GRCm39)	L490R	probably damaging	Het
Igkv4-63	T	C	6: 69,355,116 (GRCm39)	H55R	probably damaging	Het
Itga4	A	T	2: 79,086,611 (GRCm39)	N96I	probably damaging	Het
Kcna7	A	T	7: 45,056,063 (GRCm39)	H93L	probably damaging	Het
Klhdc7b	A	G	15: 89,271,562 (GRCm39)	I815V	probably benign	Het
Lcmt1	G	A	7: 123,027,330 (GRCm39)	E298K	probably damaging	Het
Ly6g6f	A	G	17: 35,302,333 (GRCm39)	V68A	possibly damaging	Het
Map3k8	C	T	18: 4,340,762 (GRCm39)	C184Y	probably damaging	Het
Mcemp1	A	G	8: 3,718,340 (GRCm39)	T183A	possibly damaging	Het
Mobp	T	G	9: 119,996,876 (GRCm39)	S2R	probably damaging	Het
Mprip	A	G	11: 59,651,644 (GRCm39)	S1783G	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nr2c1	A	G	10: 94,003,558 (GRCm39)	T239A	probably benign	Het
Odr4	A	G	1: 150,247,909 (GRCm39)	S325P	possibly damaging	Het
Oplah	G	A	15: 76,182,466 (GRCm39)	A963V	probably damaging	Het
Or13a26	A	G	7: 140,284,712 (GRCm39)		probably null	Het
Parp14	C	T	16: 35,661,505 (GRCm39)	S1481N	probably benign	Het
Prxl2a	T	C	14: 40,726,013 (GRCm39)	K44E	possibly damaging	Het
Rictor	C	T	15: 6,816,391 (GRCm39)	T1221M	probably damaging	Het
Rpe	G	A	1: 66,755,163 (GRCm39)	D182N	probably damaging	Het
Slc24a3	C	A	2: 145,448,784 (GRCm39)	P443T	probably damaging	Het
Slc25a47	T	C	12: 108,822,143 (GRCm39)	*311Q	probably null	Het
Sox2	C	G	3: 34,705,142 (GRCm39)	A193G	probably benign	Het
Svep1	T	C	4: 58,057,954 (GRCm39)	S3284G	probably benign	Het
Zfp369	A	T	13: 65,445,194 (GRCm39)	H779L	probably damaging	Het
Zfp513	A	T	5: 31,357,947 (GRCm39)	L144Q	possibly damaging	Het
Zfp526	T	C	7: 24,925,109 (GRCm39)	F456S	possibly damaging	Het
Zfp791	C	T	8: 85,836,835 (GRCm39)	G343D	probably damaging	Het
Zfp941	A	C	7: 140,388,021 (GRCm39)	I664S	possibly damaging	Het
Zkscan3	A	G	13: 21,578,233 (GRCm39)	V189A	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
R1919:Mterf3	UTSW	13	67,078,126 (GRCm39)	missense	probably damaging	0.97
R2327:Mterf3	UTSW	13	67,076,258 (GRCm39)	missense	probably damaging	1.00
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'- TCAGGGGATATTACATGGCAAAC -3'
(R):5'- TGGAAATAGATCTTGCATTGTCCC -3'

Sequencing Primer
(F):5'- CGGAGAACAGTACACCATGGGTC -3'
(R):5'- AATGCAGGTGCCTTTGAAGCC -3'

Posted On

2016-10-24