Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Mto1'

556329

Institutional Source

Beutler Lab

Gene Symbol

Mto1

Ensembl Gene

ENSMUSG00000032342

Gene Name

mitochondrial tRNA translation optimization 1

Synonyms

5730419A02Rik, 2310039H01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

PIT4515001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78355372-78381447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78364699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 313 (Y313N)

Ref Sequence

ENSEMBL: ENSMUSP00000034896 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034896
AA Change: Y313N

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

SMART Domains

Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: Y313N

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: 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

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Or2h1b	A	C	17: 37,462,270 (GRCm39)	S198A	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	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
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
R6092:Mto1	UTSW	9	78,368,131 (GRCm39)	missense	possibly damaging	0.95
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'- TCTTCTAGCCGGAAGACCAAC -3'
(R):5'- TGAACCATTTTGGCTTTCTCCAAG -3'

Sequencing Primer
(F):5'- GAAGACCAACTGCCATGTTACTTG -3'
(R):5'- TCCAAGCCTCTGATGCATG -3'

Posted On

2019-06-07