Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Mto1'

485990

Institutional Source

Beutler Lab

Gene Symbol

Mto1

Ensembl Gene

ENSMUSG00000032342

Gene Name

mitochondrial tRNA translation optimization 1

Synonyms

5730419A02Rik, 2310039H01Rik

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78355372-78381447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78368131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 425 (I425T)

Ref Sequence

ENSEMBL: ENSMUSP00000034896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034896] [ENSMUST00000148238]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034896
AA Change: I425T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: I425T

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
Pfam:FAD_binding_2	37	84	1.3e-6	PFAM
Pfam:FAD_oxidored	37	194	2.3e-9	PFAM
Pfam:GIDA	37	435	3.5e-153	PFAM
low complexity region	518	529	N/A	INTRINSIC
GIDA_assoc_3	585	658	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133002

SMART Domains

Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342

Domain	Start	End	E-Value	Type
GIDA_assoc_3	5	78	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148238

SMART Domains

Protein: ENSMUSP00000121424
Gene: ENSMUSG00000032342

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
Pfam:FAD_binding_2	37	84	7.1e-7	PFAM
Pfam:Pyr_redox_2	37	156	2.1e-7	PFAM
Pfam:FAD_oxidored	37	178	1.1e-9	PFAM
Pfam:GIDA	37	184	8.5e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157051

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a hypomorphic allele show bradycardia, cardiomyopathy, worsening of arrhythmias during induction and reversal of anesthesia, and mitochondrial abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	Het

Other mutations in Mto1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Mto1	APN	9	78,368,925 (GRCm39)	missense	probably benign	0.00
IGL01362:Mto1	APN	9	78,360,056 (GRCm39)	missense	probably benign	0.00
IGL01906:Mto1	APN	9	78,372,213 (GRCm39)	missense	probably benign
IGL02499:Mto1	APN	9	78,368,794 (GRCm39)	splice site	probably benign
IGL02504:Mto1	APN	9	78,368,209 (GRCm39)	missense	probably damaging	1.00
IGL03104:Mto1	APN	9	78,356,802 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Mto1	UTSW	9	78,364,699 (GRCm39)	missense	probably damaging	1.00
R0089:Mto1	UTSW	9	78,381,154 (GRCm39)	missense	probably benign
R0325:Mto1	UTSW	9	78,360,286 (GRCm39)	missense	probably damaging	1.00
R0566:Mto1	UTSW	9	78,355,583 (GRCm39)	missense	possibly damaging	0.66
R0659:Mto1	UTSW	9	78,378,072 (GRCm39)	missense	probably damaging	1.00
R0659:Mto1	UTSW	9	78,364,790 (GRCm39)	missense	probably damaging	1.00
R0837:Mto1	UTSW	9	78,381,072 (GRCm39)	missense	probably damaging	1.00
R1679:Mto1	UTSW	9	78,372,245 (GRCm39)	missense	probably benign
R1899:Mto1	UTSW	9	78,368,799 (GRCm39)	splice site	probably benign
R1900:Mto1	UTSW	9	78,368,799 (GRCm39)	splice site	probably benign
R2235:Mto1	UTSW	9	78,364,846 (GRCm39)	missense	possibly damaging	0.58
R3078:Mto1	UTSW	9	78,365,310 (GRCm39)	missense	probably damaging	1.00
R5015:Mto1	UTSW	9	78,368,903 (GRCm39)	missense	probably benign	0.25
R5420:Mto1	UTSW	9	78,360,109 (GRCm39)	missense	probably benign
R5947:Mto1	UTSW	9	78,368,311 (GRCm39)	missense	probably damaging	1.00
R5969:Mto1	UTSW	9	78,360,187 (GRCm39)	missense	probably damaging	1.00
R6336:Mto1	UTSW	9	78,381,117 (GRCm39)	missense	probably damaging	0.98
R6542:Mto1	UTSW	9	78,364,510 (GRCm39)	missense	possibly damaging	0.94
R7092:Mto1	UTSW	9	78,377,955 (GRCm39)	missense	probably benign	0.25
R7150:Mto1	UTSW	9	78,364,565 (GRCm39)	missense	probably damaging	1.00
R7852:Mto1	UTSW	9	78,356,820 (GRCm39)	missense	possibly damaging	0.82
R8922:Mto1	UTSW	9	78,377,928 (GRCm39)	missense	probably benign
R9358:Mto1	UTSW	9	78,364,840 (GRCm39)	missense	probably benign	0.00
R9549:Mto1	UTSW	9	78,368,961 (GRCm39)	missense	probably benign	0.01
R9623:Mto1	UTSW	9	78,364,712 (GRCm39)	missense	probably damaging	1.00
RF014:Mto1	UTSW	9	78,355,598 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGAGTGAATCATAGCAGACTAAC -3'
(R):5'- AGCCGGGTGTCAGCATTATC -3'

Sequencing Primer
(F):5'- CTGGCTTAGAATTCAGAGGTCCAC -3'
(R):5'- TATCGGGGCGCAGTGACAATC -3'

Posted On

2017-08-16