Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01073:Mtif3'

51048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtif3

Ensembl Gene

ENSMUSG00000016510

Gene Name

mitochondrial translational initiation factor 3

Synonyms

2810012L14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01073

Quality Score

Status

Chromosome

Chromosomal Location

146888383-146900610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 146895790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 99 (R99L)

Ref Sequence

ENSEMBL: ENSMUSP00000120283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016654] [ENSMUST00000066675] [ENSMUST00000110564] [ENSMUST00000110566] [ENSMUST00000125217] [ENSMUST00000132102] [ENSMUST00000140526] [ENSMUST00000146511]

AlphaFold

Q9CZD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016654
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000016654
Gene: ENSMUSG00000016510
AA Change: R99L

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	144	5e-16	PFAM
Pfam:IF3_C	152	240	1.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066675
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063398
Gene: ENSMUSG00000016510
AA Change: R99L

Domain	Start	End	E-Value	Type
Pfam:IF3_N	73	144	2.1e-13	PFAM
Pfam:IF3_C	153	238	2e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110564
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106193
Gene: ENSMUSG00000016510
AA Change: R99L

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	144	5e-16	PFAM
Pfam:IF3_C	152	240	1.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110566
AA Change: R99L

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106195
Gene: ENSMUSG00000016510
AA Change: R99L

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	144	5e-16	PFAM
Pfam:IF3_C	152	240	1.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125217
AA Change: R99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120283
Gene: ENSMUSG00000016510
AA Change: R99L

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	113	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132102

SMART Domains

Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503

Domain	Start	End	E-Value	Type
ZnF_C2H2	38	62	1.86e0	SMART
ZnF_C2H2	68	92	6.32e-3	SMART
ZnF_C2H2	98	123	1.38e-3	SMART
ZnF_C2H2	130	154	1.33e-1	SMART
ZnF_C2H2	160	184	1.45e-2	SMART
ZnF_C2H2	187	211	8.09e-1	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	244	269	3.63e-3	SMART
ZnF_C2H2	275	299	2.09e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133296

Predicted Effect

probably damaging
Transcript: ENSMUST00000140526
AA Change: R99L

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

SMART Domains

Protein: ENSMUSP00000120064
Gene: ENSMUSG00000016510
AA Change: R99L

Domain	Start	End	E-Value	Type
Pfam:IF3_N	70	109	6.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133682

Predicted Effect

probably benign
Transcript: ENSMUST00000146511

SMART Domains

Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503

Domain	Start	End	E-Value	Type
ZnF_C2H2	38	62	1.86e0	SMART
ZnF_C2H2	68	92	6.32e-3	SMART
ZnF_C2H2	98	123	1.38e-3	SMART
ZnF_C2H2	130	154	1.33e-1	SMART
ZnF_C2H2	160	184	1.45e-2	SMART
ZnF_C2H2	187	211	8.09e-1	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	244	269	3.63e-3	SMART
ZnF_C2H2	275	299	2.09e-3	SMART
low complexity region	338	361	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,156 (GRCm39)	D110G	possibly damaging	Het
Ccnd3	A	G	17: 47,905,770 (GRCm39)	T104A	probably benign	Het
Cntnap5b	A	T	1: 100,003,755 (GRCm39)	D245V	probably benign	Het
Cryab	A	G	9: 50,665,855 (GRCm39)	K82R	probably damaging	Het
Dnmt3b	G	A	2: 153,512,762 (GRCm39)		probably benign	Het
Eif2b5	A	T	16: 20,319,046 (GRCm39)	K99*	probably null	Het
Fam222b	A	G	11: 78,045,314 (GRCm39)	I292V	probably damaging	Het
Itpr1	A	C	6: 108,390,781 (GRCm39)	N1560T	probably benign	Het
Lca5	T	A	9: 83,277,528 (GRCm39)	K605N	probably damaging	Het
Letm1	T	C	5: 33,906,144 (GRCm39)	D424G	possibly damaging	Het
Nrxn3	A	G	12: 89,221,510 (GRCm39)	M430V	probably benign	Het
Or4c121	A	T	2: 89,023,481 (GRCm39)	L299Q	possibly damaging	Het
Pgap2	T	A	7: 101,875,661 (GRCm39)		probably benign	Het
Phf11c	A	T	14: 59,626,797 (GRCm39)	S129T	probably benign	Het
Ptpro	A	G	6: 137,354,086 (GRCm39)	N154S	probably damaging	Het
Rfng	C	T	11: 120,674,747 (GRCm39)	R81H	probably benign	Het
Rnf38	A	G	4: 44,137,645 (GRCm39)	M280T	probably benign	Het
Rrp7a	G	A	15: 83,002,282 (GRCm39)	A185V	probably benign	Het
Slc22a2	C	A	17: 12,803,236 (GRCm39)	F23L	probably benign	Het
Slc35f1	A	G	10: 52,898,056 (GRCm39)	T156A	probably benign	Het
Slfn1	A	T	11: 83,012,163 (GRCm39)	Y93F	probably benign	Het
Snrnp200	A	T	2: 127,056,832 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,730,176 (GRCm39)	F701S	probably damaging	Het
Tmem203	A	C	2: 25,145,736 (GRCm39)	I19L	probably benign	Het
Usp8	A	T	2: 126,560,034 (GRCm39)	K18N	probably damaging	Het
Vmn2r115	G	A	17: 23,564,971 (GRCm39)	R286K	probably benign	Het
Vmn2r23	A	C	6: 123,689,759 (GRCm39)	T212P	possibly damaging	Het

Other mutations in Mtif3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Mtif3	APN	5	146,895,914 (GRCm39)	nonsense	probably null
hillary	UTSW	5	146,892,488 (GRCm39)	missense	possibly damaging	0.81
R0058:Mtif3	UTSW	5	146,893,731 (GRCm39)	missense	probably benign	0.05
R0058:Mtif3	UTSW	5	146,893,731 (GRCm39)	missense	probably benign	0.05
R4021:Mtif3	UTSW	5	146,892,488 (GRCm39)	missense	possibly damaging	0.81
R4994:Mtif3	UTSW	5	146,893,598 (GRCm39)	missense	probably benign	0.01
R7580:Mtif3	UTSW	5	146,895,757 (GRCm39)	missense	possibly damaging	0.63
R8020:Mtif3	UTSW	5	146,895,713 (GRCm39)	missense	probably damaging	1.00
R8166:Mtif3	UTSW	5	146,896,052 (GRCm39)	missense	probably benign	0.00
R8978:Mtif3	UTSW	5	146,895,846 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21