Mutagenetix > Incidental Mutation

Incidental Mutation 'R2235:Mto1'

240401

Institutional Source

Beutler Lab

Gene Symbol

Mto1

Ensembl Gene

ENSMUSG00000032342

Gene Name

mitochondrial tRNA translation optimization 1

Synonyms

5730419A02Rik, 2310039H01Rik

MMRRC Submission

040236-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78355372-78381447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78364846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 362 (T362P)

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: T362P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342
AA Change: T362P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,619,023 (GRCm39)	V256A	probably benign	Het
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adcy2	A	T	13: 68,816,611 (GRCm39)	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,474,569 (GRCm39)	K478R	probably benign	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Bach1	A	G	16: 87,517,001 (GRCm39)	D514G	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 75,310,830 (GRCm39)	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Cts6	T	A	13: 61,343,247 (GRCm39)	I325F	probably damaging	Het
Dnah6	T	C	6: 73,077,068 (GRCm39)	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Fhip1a	A	T	3: 85,568,408 (GRCm39)	L1037Q	probably damaging	Het
Fndc11	A	G	2: 180,864,067 (GRCm39)	S291G	possibly damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,437,038 (GRCm39)	S113P	probably benign	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Or10a3	A	G	7: 108,480,172 (GRCm39)	F214L	probably benign	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Pld3	G	A	7: 27,240,532 (GRCm39)	T136M	probably benign	Het
Prph2	A	T	17: 47,222,092 (GRCm39)	D157V	probably damaging	Het
Racgap1	A	G	15: 99,524,417 (GRCm39)	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,527,544 (GRCm39)	E617G	probably benign	Het
Smap1	T	C	1: 23,898,139 (GRCm39)	N99S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Sox4	C	T	13: 29,136,613 (GRCm39)	R131Q	probably damaging	Het
Spaca6	T	C	17: 18,058,507 (GRCm39)		probably null	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tpr	T	A	1: 150,317,843 (GRCm39)	F2117Y	probably benign	Het
Traf5	T	C	1: 191,738,806 (GRCm39)	M125V	probably damaging	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,793,712 (GRCm39)	S340R	probably damaging	Het
Vit	T	C	17: 78,912,867 (GRCm39)	S267P	probably benign	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Zfp990	T	A	4: 145,264,461 (GRCm39)	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,719,098 (GRCm39)	S373P	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
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
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'- TACAAAAGGGCCCCGGTAAG -3'
(R):5'- CACAGCAGATGGATGGATGCTG -3'

Sequencing Primer
(F):5'- GCCAGTGCTTAATCACTTTAAGG -3'
(R):5'- TGCCTCAAGCTTGCAGATAG -3'

Posted On

2014-10-15