Mutagenetix > Incidental Mutation

Incidental Mutation 'R7527:Taco1'

583091

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

045599-MU

Accession Numbers

Essential gene?

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

Stock #

R7527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105956887-105964438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105962795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 161 (I161F)

Ref Sequence

ENSEMBL: ENSMUSP00000002048 (fasta)

Gene Model

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

AlphaFold

Q8K0Z7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002048
AA Change: I161F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002048
Gene: ENSMUSG00000001983
AA Change: I161F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,218,556 (GRCm39)		probably null	Het
Abcc10	A	G	17: 46,623,830 (GRCm39)	S810P	possibly damaging	Het
Adam22	T	C	5: 8,132,239 (GRCm39)	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,510,257 (GRCm39)	L95*	probably null	Het
Adgrl4	C	A	3: 151,144,887 (GRCm39)	T12N	probably benign	Het
Alpi	T	C	1: 87,026,677 (GRCm39)	N438S	probably benign	Het
Ankrd44	T	C	1: 54,687,483 (GRCm39)	N979D	probably benign	Het
Ankrd60	A	C	2: 173,419,966 (GRCm39)	S57A	probably benign	Het
Arfgef3	G	A	10: 18,522,377 (GRCm39)	P550S	probably benign	Het
Btbd16	A	T	7: 130,422,202 (GRCm39)	D390V	probably damaging	Het
Cacna2d4	T	C	6: 119,248,208 (GRCm39)	V374A	probably benign	Het
Cdcp1	A	T	9: 123,014,172 (GRCm39)	F201I	probably benign	Het
Cdh15	A	T	8: 123,588,865 (GRCm39)	D313V	probably damaging	Het
Cfap157	A	G	2: 32,669,890 (GRCm39)	L231P	possibly damaging	Het
Chl1	T	G	6: 103,688,162 (GRCm39)	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,948,770 (GRCm39)	H360R	probably damaging	Het
Csmd1	C	T	8: 16,261,732 (GRCm39)	A922T	probably damaging	Het
Fancg	C	T	4: 43,010,116 (GRCm39)		probably benign	Het
Glt8d2	A	T	10: 82,488,403 (GRCm39)	S356T	unknown	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gm9195	C	T	14: 72,711,310 (GRCm39)	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,025,693 (GRCm39)	R129C		Het
Golph3	T	G	15: 12,343,404 (GRCm39)		probably null	Het
H2bc18	T	A	3: 96,177,186 (GRCm39)	V40D	possibly damaging	Het
Hk1	C	A	10: 62,140,561 (GRCm39)	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,536,001 (GRCm39)	Y37C	probably damaging	Het
Inava	T	A	1: 136,142,122 (GRCm39)	D659V	possibly damaging	Het
Jun	G	T	4: 94,939,234 (GRCm39)	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,784,597 (GRCm39)	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,569,843 (GRCm39)		probably null	Het
Man2c1	T	A	9: 57,045,100 (GRCm39)	Y429*	probably null	Het
Myo18a	T	A	11: 77,734,406 (GRCm39)	C1476S	probably benign	Het
Neb	G	C	2: 52,066,635 (GRCm39)	T6155R	probably damaging	Het
Niban3	C	G	8: 72,059,342 (GRCm39)	C568W	probably damaging	Het
Nuf2	T	C	1: 169,326,422 (GRCm39)	E443G	possibly damaging	Het
Or10j5	C	T	1: 172,784,511 (GRCm39)	H50Y	probably benign	Het
Or4c15	A	G	2: 88,760,434 (GRCm39)	V75A	probably benign	Het
Or5d37	A	T	2: 87,923,954 (GRCm39)	C109S	probably damaging	Het
Or7g32	A	G	9: 19,408,685 (GRCm39)	I214V	probably damaging	Het
Osmr	A	G	15: 6,856,603 (GRCm39)	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,367,177 (GRCm39)	L84P	probably damaging	Het
Plcl1	T	C	1: 55,736,273 (GRCm39)	I538T	probably damaging	Het
Plxnb1	G	T	9: 108,929,929 (GRCm39)	V262L	probably damaging	Het
Pprc1	T	C	19: 46,057,804 (GRCm39)	S1320P	unknown	Het
Pramel47	A	G	5: 95,490,409 (GRCm39)	D347G	probably benign	Het
Prap1	G	A	7: 139,676,120 (GRCm39)		probably null	Het
Psg23	A	T	7: 18,348,699 (GRCm39)	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887 (GRCm39)	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,087,104 (GRCm39)	T528A	probably benign	Het
Rapgef6	T	C	11: 54,525,787 (GRCm39)	S541P	unknown	Het
Rnf17	A	T	14: 56,753,895 (GRCm39)	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,778,731 (GRCm39)	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,801,393 (GRCm39)	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,658,167 (GRCm39)	Y246S	probably benign	Het
Sftpb	T	A	6: 72,282,048 (GRCm39)	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,691,475 (GRCm39)	V424I	probably benign	Het
Slc5a4b	G	A	10: 75,946,742 (GRCm39)	T10M	probably benign	Het
Slc6a16	T	C	7: 44,922,063 (GRCm39)	W664R	probably damaging	Het
Snx8	T	C	5: 140,341,827 (GRCm39)	E138G	probably benign	Het
Sox6	T	C	7: 115,376,408 (GRCm39)	E108G	probably benign	Het
Sptan1	A	T	2: 29,870,209 (GRCm39)	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,075,015 (GRCm39)	E1452G	possibly damaging	Het
Stac2	T	A	11: 97,930,452 (GRCm39)	E372V	probably damaging	Het
Taf1d	C	A	9: 15,220,133 (GRCm39)	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,097,803 (GRCm39)	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,729,635 (GRCm39)	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 69,148,671 (GRCm39)	H418L	probably benign	Het
Tmem81	T	C	1: 132,435,884 (GRCm39)	V230A	probably benign	Het
Tnn	C	T	1: 159,946,074 (GRCm39)	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,280,154 (GRCm39)	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,801,894 (GRCm39)	N57S	probably benign	Het
Ttn	G	A	2: 76,598,383 (GRCm39)	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,820,167 (GRCm39)	L73P	unknown	Het
Uso1	A	G	5: 92,347,734 (GRCm39)	D845G	possibly damaging	Het
Utrn	G	T	10: 12,277,126 (GRCm39)	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	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
R6262:Taco1	UTSW	11	105,962,693 (GRCm39)	nonsense	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
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'- GCCATGGAGCCACTCTTTAG -3'
(R):5'- GAGCATTTGAAGACTAGGCCG -3'

Sequencing Primer
(F):5'- ATGGAGCCACTCTTTAGTACCTGTG -3'
(R):5'- GACTAGGCCGTTCTATAGCTACAG -3'

Posted On

2019-10-17