Mutagenetix > Incidental Mutation

Incidental Mutation 'R0089:Mto1'

98712

Institutional Source

Beutler Lab

Gene Symbol

Mto1

Ensembl Gene

ENSMUSG00000032342

Gene Name

mitochondrial tRNA translation optimization 1

Synonyms

5730419A02Rik, 2310039H01Rik

MMRRC Submission

038376-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0089 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

78355372-78381447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78381154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 666 (S666N)

Ref Sequence

ENSEMBL: ENSMUSP00000034896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034896] [ENSMUST00000042235] [ENSMUST00000148238]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034896
AA Change: S666N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: S666N

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: ENSMUST00000042235

SMART Domains

Protein: ENSMUSP00000042457
Gene: ENSMUSG00000037742

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	238	3.4e-55	PFAM
Pfam:GTP_EFTU_D2	260	327	6.3e-16	PFAM
Pfam:GTP_EFTU_D3	333	442	5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129380

Predicted Effect

unknown
Transcript: ENSMUST00000133002
AA Change: S85N

SMART Domains

Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342
AA Change: S85N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136478

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,303 (GRCm39)	H163L	probably benign	Het
Abca13	T	A	11: 9,242,886 (GRCm39)	V1583E	possibly damaging	Het
Ablim1	G	T	19: 57,031,463 (GRCm39)	S654Y	probably damaging	Het
Acbd4	T	C	11: 102,994,819 (GRCm39)	F59S	probably damaging	Het
Acot1	T	C	12: 84,063,708 (GRCm39)	I272T	probably damaging	Het
Ankhd1	A	G	18: 36,773,409 (GRCm39)	D1402G	probably damaging	Het
Birc6	T	A	17: 74,945,371 (GRCm39)	F2800I	possibly damaging	Het
Brd1	T	C	15: 88,585,401 (GRCm39)	E811G	probably benign	Het
Catspere2	C	T	1: 177,874,555 (GRCm39)	P141S	unknown	Het
Ccdc106	A	G	7: 5,059,220 (GRCm39)		probably null	Het
Ccdc81	G	T	7: 89,542,324 (GRCm39)	A184E	possibly damaging	Het
Cenpt	T	C	8: 106,573,000 (GRCm39)	T364A	probably benign	Het
Crybg2	T	C	4: 133,808,505 (GRCm39)	S1060P	probably damaging	Het
Dnttip2	A	G	3: 122,069,111 (GRCm39)	T109A	possibly damaging	Het
Dpy19l2	A	G	9: 24,607,089 (GRCm39)	L124P	probably benign	Het
Eif1ad19	A	T	12: 87,740,283 (GRCm39)	I92N	probably damaging	Het
Fat3	T	C	9: 15,849,501 (GRCm39)	D3967G	probably benign	Het
Fbxo21	T	A	5: 118,146,208 (GRCm39)	F610L	probably benign	Het
Fmo9	T	C	1: 166,494,878 (GRCm39)	D341G	probably benign	Het
Frem3	A	T	8: 81,342,507 (GRCm39)	H1600L	possibly damaging	Het
Fry	A	T	5: 150,263,892 (GRCm39)	K133N	possibly damaging	Het
Gm10647	A	G	9: 66,705,612 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,906,119 (GRCm39)	F472S	probably benign	Het
Grb10	T	C	11: 11,884,192 (GRCm39)		probably benign	Het
Grm6	G	A	11: 50,750,792 (GRCm39)	G652S	probably damaging	Het
Heca	G	T	10: 17,783,848 (GRCm39)	D468E	probably damaging	Het
Heg1	C	T	16: 33,583,985 (GRCm39)	S1033L	probably damaging	Het
Hepacam2	A	G	6: 3,487,094 (GRCm39)	S12P	probably damaging	Het
Impdh1	G	T	6: 29,206,325 (GRCm39)	H195N	probably benign	Het
Ipo7	T	C	7: 109,649,972 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,251,520 (GRCm39)		probably null	Het
Kcnh6	G	A	11: 105,899,848 (GRCm39)	C39Y	probably benign	Het
Kif26a	T	C	12: 112,143,837 (GRCm39)	S1364P	probably damaging	Het
Lins1	T	A	7: 66,361,796 (GRCm39)		probably benign	Het
Lrpap1	C	T	5: 35,252,232 (GRCm39)	V328M	possibly damaging	Het
Lyn	T	G	4: 3,748,768 (GRCm39)	L249V	probably benign	Het
Mpp7	A	G	18: 7,439,555 (GRCm39)		probably benign	Het
Mtmr9	A	G	14: 63,765,696 (GRCm39)	F400L	possibly damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nsg1	T	C	5: 38,312,974 (GRCm39)	E75G	probably benign	Het
Nsun4	A	G	4: 115,892,970 (GRCm39)	M283T	probably benign	Het
Obscn	A	G	11: 58,890,888 (GRCm39)	S7215P	unknown	Het
Or11j4	T	C	14: 50,630,321 (GRCm39)	I36T	probably benign	Het
Or13a20	T	C	7: 140,232,224 (GRCm39)	S111P	probably damaging	Het
Or1j12	G	A	2: 36,343,107 (GRCm39)	R170K	probably benign	Het
Or2y13	G	A	11: 49,415,033 (GRCm39)	S161N	possibly damaging	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5al1	A	C	2: 85,989,918 (GRCm39)	S265R	possibly damaging	Het
Or9m1b	T	C	2: 87,836,331 (GRCm39)	I264V	probably damaging	Het
Per1	T	C	11: 68,994,869 (GRCm39)	F563S	probably benign	Het
Pik3c3	T	A	18: 30,436,131 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,605,675 (GRCm39)	K207N	probably damaging	Het
Prdm10	C	T	9: 31,227,526 (GRCm39)	R44C	probably damaging	Het
Rab40c	A	T	17: 26,104,122 (GRCm39)	I90N	probably damaging	Het
Rbl1	A	G	2: 157,041,334 (GRCm39)		probably null	Het
Rnf17	G	A	14: 56,751,563 (GRCm39)	G1467E	probably damaging	Het
Rpgrip1	A	G	14: 52,386,841 (GRCm39)		probably benign	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Scap	T	C	9: 110,201,290 (GRCm39)	I93T	possibly damaging	Het
Sez6	T	C	11: 77,865,170 (GRCm39)		probably benign	Het
Slc22a30	A	T	19: 8,347,561 (GRCm39)	S280T	probably benign	Het
Slc26a5	A	C	5: 22,016,342 (GRCm39)		probably null	Het
St18	T	C	1: 6,919,172 (GRCm39)	V901A	probably benign	Het
Syne2	T	C	12: 76,010,650 (GRCm39)	L2519P	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tmem51	T	C	4: 141,759,236 (GRCm39)	T171A	probably benign	Het
Tns4	A	T	11: 98,966,024 (GRCm39)	I453N	probably damaging	Het
Trank1	A	T	9: 111,221,978 (GRCm39)	H2905L	probably benign	Het
Trim13	C	T	14: 61,842,166 (GRCm39)	T61I	possibly damaging	Het
Trim75	T	C	8: 65,435,580 (GRCm39)	Q290R	possibly damaging	Het
Ttn	C	A	2: 76,559,544 (GRCm39)	R29619L	probably damaging	Het
Ugt2b38	T	A	5: 87,568,417 (GRCm39)	M293L	probably benign	Het
Vmn1r22	T	A	6: 57,877,513 (GRCm39)	N155Y	probably benign	Het
Vmn2r18	T	C	5: 151,508,269 (GRCm39)	Y285C	probably benign	Het
Vmn2r84	C	T	10: 130,222,588 (GRCm39)		probably benign	Het
Vwde	A	C	6: 13,220,004 (GRCm39)	L49R	probably damaging	Het
Yipf2	T	A	9: 21,503,262 (GRCm39)	E68D	possibly damaging	Het
Zfand5	C	A	19: 21,257,122 (GRCm39)		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
PIT4515001:Mto1	UTSW	9	78,364,699 (GRCm39)	missense	probably damaging	1.00
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'- TGTCCTATAAAGAGGCTGTGGGGAG -3'
(R):5'- CTTGGCACATACCTTTGGACAAACG -3'

Sequencing Primer
(F):5'- GAGGACATCTGATTTGACATCGC -3'
(R):5'- GACTCCCACAGGGATtgaatattag -3'

Posted On

2014-01-08