Mutagenetix > Incidental Mutation

Incidental Mutation 'R6262:Taco1'

506777

Institutional Source

Beutler Lab

Gene Symbol

Taco1

Ensembl Gene

ENSMUSG00000001983

Gene Name

translational activator of mitochondrially encoded cytochrome c oxidase I

Synonyms

Ccdc44, 2310066I18Rik

MMRRC Submission

045016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R6262 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

105956887-105964438 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 105962693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 127 (K127*)

Ref Sequence

ENSEMBL: ENSMUSP00000002048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002048]

AlphaFold

Q8K0Z7

Predicted Effect

probably null
Transcript: ENSMUST00000002048
AA Change: K127*

SMART Domains

Protein: ENSMUSP00000002048
Gene: ENSMUSG00000001983
AA Change: K127*

Domain	Start	End	E-Value	Type
Pfam:Transcrip_reg	58	293	1.1e-64	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice exhibit retinal neuron degeneration, cardiohypertrophy and motor dysfunction as a result of isolated complex IV deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,092,917 (GRCm39)	T289I	probably benign	Het
Abca2	T	C	2: 25,334,922 (GRCm39)	Y1965H	possibly damaging	Het
Adam26a	T	C	8: 44,022,125 (GRCm39)	N455S	possibly damaging	Het
Art5	C	T	7: 101,747,338 (GRCm39)	G147D	probably benign	Het
Atp5f1a	G	A	18: 77,868,912 (GRCm39)	V429M	probably damaging	Het
Calr4	A	T	4: 109,108,564 (GRCm39)	N213I	probably damaging	Het
Cchcr1	T	C	17: 35,841,413 (GRCm39)	S810P	probably benign	Het
Cdh4	A	T	2: 179,439,419 (GRCm39)	R189W	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,606 (GRCm39)	D84G	probably benign	Het
Clasp2	T	A	9: 113,705,420 (GRCm39)		probably null	Het
Cntnap2	T	A	6: 45,037,046 (GRCm39)		probably null	Het
Cntnap4	T	C	8: 113,529,843 (GRCm39)	Y684H	probably damaging	Het
Cyp2a4	T	A	7: 26,011,655 (GRCm39)	V292E	probably damaging	Het
Dap	A	G	15: 31,235,960 (GRCm39)	T10A	probably benign	Het
Dnah11	G	A	12: 117,894,913 (GRCm39)	R3645C	probably damaging	Het
Dnah9	A	T	11: 65,772,631 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,784,579 (GRCm39)	M2787K	probably benign	Het
Efr3a	T	C	15: 65,729,323 (GRCm39)	S675P	possibly damaging	Het
Gria1	A	G	11: 57,133,680 (GRCm39)	K451E	probably damaging	Het
Grin3b	A	T	10: 79,810,203 (GRCm39)	M570L	probably benign	Het
Hs2st1	A	G	3: 144,140,374 (GRCm39)	F316L	probably damaging	Het
Hs6st3	A	G	14: 119,376,403 (GRCm39)	T193A	possibly damaging	Het
Hspg2	A	T	4: 137,246,997 (GRCm39)	D1108V	probably damaging	Het
Igf1r	T	A	7: 67,653,720 (GRCm39)	L86Q	probably damaging	Het
Inpp5j	A	G	11: 3,452,615 (GRCm39)	S212P	probably benign	Het
Junb	A	G	8: 85,704,359 (GRCm39)	S234P	possibly damaging	Het
Lhx3	GTGTTGT	GTGT	2: 26,092,435 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,366,983 (GRCm39)	S1028P	possibly damaging	Het
Met	C	A	6: 17,553,403 (GRCm39)	A1063E	probably benign	Het
Mink1	T	C	11: 70,494,151 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,552 (GRCm39)	E1621G	possibly damaging	Het
Mug2	T	C	6: 122,052,214 (GRCm39)	Y991H	probably damaging	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nkx6-3	T	C	8: 23,643,863 (GRCm39)	V88A	probably benign	Het
Nr3c2	A	G	8: 77,635,262 (GRCm39)	Q121R	possibly damaging	Het
Nup155	T	C	15: 8,186,225 (GRCm39)	V1329A	probably benign	Het
Or2d36	T	C	7: 106,746,918 (GRCm39)	Y132H	probably damaging	Het
Or5d35	T	C	2: 87,855,738 (GRCm39)	V224A	probably benign	Het
Pcdhb17	T	A	18: 37,619,751 (GRCm39)	F514I	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Prl8a1	A	T	13: 27,758,126 (GRCm39)	H194Q	possibly damaging	Het
Sh3tc1	C	G	5: 35,857,117 (GRCm39)	E1241Q	probably damaging	Het
Slc6a6	A	T	6: 91,732,013 (GRCm39)	H614L	possibly damaging	Het
Sort1	A	G	3: 108,217,527 (GRCm39)	Y143C	probably damaging	Het
Stat4	T	A	1: 52,141,360 (GRCm39)	W569R	probably null	Het
Tas2r110	T	C	6: 132,845,638 (GRCm39)	I223T	probably damaging	Het
Tex21	A	G	12: 76,259,306 (GRCm39)	I329T	probably damaging	Het
Tmprss11b	T	C	5: 86,810,119 (GRCm39)	H287R	probably benign	Het
Trim30a	A	G	7: 104,060,741 (GRCm39)	L345P	probably benign	Het
Vmn1r62	G	A	7: 5,678,556 (GRCm39)	C79Y	probably damaging	Het
Vmn2r116	A	G	17: 23,606,351 (GRCm39)	K421R	probably benign	Het
Vwde	C	T	6: 13,205,020 (GRCm39)	S287N	probably damaging	Het
Xrcc4	A	T	13: 89,926,906 (GRCm39)	M300K	probably benign	Het
Zan	A	T	5: 137,427,747 (GRCm39)		probably null	Het
Zbtb7c	A	G	18: 76,270,413 (GRCm39)	D167G	probably benign	Het
Zfc3h1	A	G	10: 115,249,881 (GRCm39)	Y1165C	probably damaging	Het
Zfp326	T	A	5: 106,036,353 (GRCm39)	L88Q	probably damaging	Het
Zfp667	A	G	7: 6,307,973 (GRCm39)	T214A	probably benign	Het

Other mutations in Taco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Taco1	APN	11	105,962,805 (GRCm39)	missense	probably damaging	1.00
IGL02951:Taco1	APN	11	105,960,353 (GRCm39)	missense	probably benign	0.00
R2204:Taco1	UTSW	11	105,962,760 (GRCm39)	missense	probably benign	0.00
R3498:Taco1	UTSW	11	105,963,364 (GRCm39)	missense	probably benign	0.07
R5089:Taco1	UTSW	11	105,960,437 (GRCm39)	missense	probably benign	0.21
R5353:Taco1	UTSW	11	105,963,539 (GRCm39)	splice site	probably null
R6952:Taco1	UTSW	11	105,963,942 (GRCm39)	missense	probably benign	0.01
R7326:Taco1	UTSW	11	105,963,443 (GRCm39)	missense	probably benign	0.31
R7527:Taco1	UTSW	11	105,962,795 (GRCm39)	missense	probably damaging	0.97
R7552:Taco1	UTSW	11	105,962,774 (GRCm39)	missense	probably benign	0.01
R7760:Taco1	UTSW	11	105,963,938 (GRCm39)	missense	possibly damaging	0.57
R9006:Taco1	UTSW	11	105,956,931 (GRCm39)	start gained	probably benign
R9293:Taco1	UTSW	11	105,963,930 (GRCm39)	missense	probably benign	0.05
R9572:Taco1	UTSW	11	105,963,938 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- AGAGGATTTCCAGCGGTCTC -3'
(R):5'- ACTGGAATCTAAAGGTGCTATCC -3'

Sequencing Primer
(F):5'- CAGCGGTCTCAGAGGTTGATAC -3'
(R):5'- GGAATCTAAAGGTGCTATCCCTTTC -3'

Posted On

2018-03-15