Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Mto1'

214104

Institutional Source

Beutler Lab

Gene Symbol

Mto1

Ensembl Gene

ENSMUSG00000032342

Gene Name

mitochondrial tRNA translation optimization 1

Synonyms

5730419A02Rik, 2310039H01Rik

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78448208-78475348 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78461517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121424 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034896

SMART Domains

Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	Het

Other mutations in Mto1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Mto1	APN	9	78461643	missense	probably benign	0.00
IGL01362:Mto1	APN	9	78452774	missense	probably benign	0.00
IGL01906:Mto1	APN	9	78464931	missense	probably benign
IGL02499:Mto1	APN	9	78461512	splice site	probably benign
IGL02504:Mto1	APN	9	78460927	missense	probably damaging	1.00
IGL03104:Mto1	APN	9	78449520	missense	probably damaging	1.00
PIT4515001:Mto1	UTSW	9	78457417	missense	probably damaging	1.00
R0089:Mto1	UTSW	9	78473872	missense	probably benign
R0325:Mto1	UTSW	9	78453004	missense	probably damaging	1.00
R0566:Mto1	UTSW	9	78448301	missense	possibly damaging	0.66
R0659:Mto1	UTSW	9	78457508	missense	probably damaging	1.00
R0659:Mto1	UTSW	9	78470790	missense	probably damaging	1.00
R0837:Mto1	UTSW	9	78473790	missense	probably damaging	1.00
R1679:Mto1	UTSW	9	78464963	missense	probably benign
R1900:Mto1	UTSW	9	78461517	splice site	probably benign
R2235:Mto1	UTSW	9	78457564	missense	possibly damaging	0.58
R3078:Mto1	UTSW	9	78458028	missense	probably damaging	1.00
R5015:Mto1	UTSW	9	78461621	missense	probably benign	0.25
R5420:Mto1	UTSW	9	78452827	missense	probably benign
R5947:Mto1	UTSW	9	78461029	missense	probably damaging	1.00
R5969:Mto1	UTSW	9	78452905	missense	probably damaging	1.00
R6092:Mto1	UTSW	9	78460849	missense	possibly damaging	0.95
R6336:Mto1	UTSW	9	78473835	missense	probably damaging	0.98
R6542:Mto1	UTSW	9	78457228	missense	possibly damaging	0.94
R7092:Mto1	UTSW	9	78470673	missense	probably benign	0.25
R7150:Mto1	UTSW	9	78457283	missense	probably damaging	1.00
R7852:Mto1	UTSW	9	78449538	missense	possibly damaging	0.82
R8922:Mto1	UTSW	9	78470646	missense	probably benign
R9358:Mto1	UTSW	9	78457558	missense	probably benign	0.00
R9549:Mto1	UTSW	9	78461679	missense	probably benign	0.01
R9623:Mto1	UTSW	9	78457430	missense	probably damaging	1.00
RF014:Mto1	UTSW	9	78448316	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAAGGTCTCCACGTCTGTG -3'
(R):5'- ATCATACCTGACAGGAAGGCTTC -3'

Sequencing Primer
(F):5'- AAGTCACTGTAGCTGTCTTCAGAC -3'
(R):5'- CCTGACAGGAAGGCTTCTATTAATAC -3'

Posted On

2014-07-14