Mutagenetix > Incidental Mutation

Incidental Mutation 'R5554:Pet100'

435290

Institutional Source

Beutler Lab

Gene Symbol

Pet100

Ensembl Gene

ENSMUSG00000087687

Gene Name

PET100 homolog

Synonyms

2900053A13Rik

MMRRC Submission

043111-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.721) question?

Stock #

R5554 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3671551-3674235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3672381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 19 (I19F)

Ref Sequence

ENSEMBL: ENSMUSP00000146950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004749] [ENSMUST00000019614] [ENSMUST00000128566] [ENSMUST00000133459] [ENSMUST00000136105] [ENSMUST00000142431] [ENSMUST00000144977] [ENSMUST00000156380] [ENSMUST00000208950] [ENSMUST00000207428] [ENSMUST00000207389] [ENSMUST00000159235]

AlphaFold

P0DJE0

Predicted Effect

probably benign
Transcript: ENSMUST00000004749

SMART Domains

Protein: ENSMUSP00000004749
Gene: ENSMUSG00000004630

Domain	Start	End	E-Value	Type
GoLoco	26	48	4.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019614

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
HAT	48	80	7.56e0	SMART
HAT	93	122	1.92e2	SMART
HAT	124	158	4.89e-2	SMART
HAT	270	305	3.82e-4	SMART
low complexity region	316	333	N/A	INTRINSIC
HAT	409	445	1.88e1	SMART
HAT	447	496	2.32e2	SMART
HAT	498	530	1.56e1	SMART
HAT	532	566	5.84e0	SMART
HAT	571	605	3.62e-5	SMART
Blast:HAT	607	641	3e-14	BLAST
Blast:HAT	643	677	2e-15	BLAST
HAT	679	713	2.77e-1	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	823	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128566

Predicted Effect

probably benign
Transcript: ENSMUST00000133459

SMART Domains

Protein: ENSMUSP00000122902
Gene: ENSMUSG00000004630

Domain	Start	End	E-Value	Type
GoLoco	7	29	3.29e-6	SMART
GoLoco	47	69	4.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136105

SMART Domains

Protein: ENSMUSP00000121079
Gene: ENSMUSG00000004630

Domain	Start	End	E-Value	Type
GoLoco	23	45	3.29e-6	SMART
GoLoco	63	85	4.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142431

SMART Domains

Protein: ENSMUSP00000121403
Gene: ENSMUSG00000004630

Domain	Start	End	E-Value	Type
GoLoco	26	48	4.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144977

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156380
AA Change: I23F

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137626
Gene: ENSMUSG00000087687
AA Change: I23F

Domain	Start	End	E-Value	Type
Pfam:DUF2346	1	72	2.2e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208950
AA Change: I23F

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207428
AA Change: I19F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207389
AA Change: I14F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159909

Predicted Effect

probably benign
Transcript: ENSMUST00000159235

SMART Domains

Protein: ENSMUSP00000124237
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
Blast:HAT	12	47	2e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159548

SMART Domains

Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
Blast:HAT	10	44	4e-12	BLAST
HAT	46	78	7.56e0	SMART
HAT	91	120	1.92e2	SMART
HAT	122	156	4.89e-2	SMART
Blast:HAT	157	190	4e-12	BLAST
Pfam:TPR_2	243	272	2.2e-6	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,304,807 (GRCm39)	R227L	probably benign	Het
Adamtsl1	A	G	4: 86,195,182 (GRCm39)	Q533R	possibly damaging	Het
Adgb	C	T	10: 10,216,217 (GRCm39)	R1524H	probably damaging	Het
Ank2	A	T	3: 126,792,622 (GRCm39)	N739K	possibly damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Anxa10	G	A	8: 62,514,080 (GRCm39)	P249L	possibly damaging	Het
Banp	G	A	8: 122,718,334 (GRCm39)	E183K	probably damaging	Het
BC051665	C	G	13: 60,932,435 (GRCm39)	L83F	probably damaging	Het
Btn1a1	A	T	13: 23,643,295 (GRCm39)	F385I	possibly damaging	Het
Chchd4	A	T	6: 91,441,999 (GRCm39)	*140R	probably null	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dlx2	G	A	2: 71,375,805 (GRCm39)	R173C	possibly damaging	Het
Dmbt1	C	A	7: 130,701,030 (GRCm39)	Y1069*	probably null	Het
Dop1a	T	A	9: 86,403,710 (GRCm39)	F1637I	probably damaging	Het
Dusp18	T	C	11: 3,847,202 (GRCm39)	I64T	probably damaging	Het
Evi5l	A	G	8: 4,256,491 (GRCm39)		probably benign	Het
Fiz1	T	C	7: 5,015,849 (GRCm39)	H47R	probably damaging	Het
Fndc3b	G	T	3: 27,697,162 (GRCm39)	P17T	possibly damaging	Het
Foxa1	T	A	12: 57,589,077 (GRCm39)	Q381L	probably benign	Het
Gda	A	G	19: 21,405,837 (GRCm39)		probably null	Het
Gm10044	T	C	14: 7,771,181 (GRCm38)		noncoding transcript	Het
Gm12258	T	A	11: 58,749,294 (GRCm39)	S156R	possibly damaging	Het
Gm973	A	G	1: 59,566,131 (GRCm39)	R117G	probably benign	Het
Grwd1	C	T	7: 45,480,064 (GRCm39)	V48I	probably damaging	Het
Ifi209	T	A	1: 173,468,763 (GRCm39)	S198T	probably benign	Het
Inka2	T	A	3: 105,623,930 (GRCm39)	S82R	possibly damaging	Het
Itga1	A	T	13: 115,129,010 (GRCm39)	C549*	probably null	Het
Kmt2c	C	A	5: 25,499,608 (GRCm39)	G511C	probably damaging	Het
Knstrn	T	C	2: 118,664,444 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,382,768 (GRCm39)	Y39C	possibly damaging	Het
Maco1	T	C	4: 134,555,445 (GRCm39)	I343V	probably benign	Het
Micos10	T	C	4: 138,833,218 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,965,457 (GRCm39)	Y1169H	probably benign	Het
Nbr1	C	T	11: 101,455,633 (GRCm39)	T129I	probably benign	Het
Or52e8	A	C	7: 104,625,189 (GRCm39)	M1R	probably null	Het
Or5k15	A	T	16: 58,710,169 (GRCm39)	M138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,039 (GRCm39)	I219V	probably benign	Het
Oxct1	T	A	15: 4,120,677 (GRCm39)	F254I	probably benign	Het
Patj	T	A	4: 98,342,633 (GRCm39)	S576T	possibly damaging	Het
Pdxdc1	A	T	16: 13,690,363 (GRCm39)	C202S	probably benign	Het
Pik3r5	T	C	11: 68,385,059 (GRCm39)	Y655H	probably damaging	Het
Pkhd1	A	G	1: 20,151,476 (GRCm39)	S3807P	probably damaging	Het
Ptma	A	G	1: 86,454,649 (GRCm39)	T8A	probably damaging	Het
Ptpn3	G	T	4: 57,240,843 (GRCm39)	N257K	probably damaging	Het
R3hdm1	C	A	1: 128,164,409 (GRCm39)	Q1108K	probably benign	Het
Rimbp2	T	C	5: 128,857,406 (GRCm39)	D815G	probably damaging	Het
Scn10a	A	G	9: 119,523,196 (GRCm39)	F66L	probably benign	Het
Selenot	T	C	3: 58,484,296 (GRCm39)		probably null	Het
Serpinb8	A	G	1: 107,526,705 (GRCm39)	T82A	probably benign	Het
Serpini2	G	A	3: 75,175,295 (GRCm39)		probably benign	Het
Slc1a6	G	T	10: 78,631,816 (GRCm39)	G214V	probably benign	Het
Slc5a6	C	A	5: 31,195,444 (GRCm39)	A425S	probably damaging	Het
Smo	C	A	6: 29,736,123 (GRCm39)	N38K	possibly damaging	Het
Smtn	A	T	11: 3,470,811 (GRCm39)	C909*	probably null	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Stk4	T	A	2: 163,941,645 (GRCm39)	V287E	probably benign	Het
Tdrd7	A	G	4: 46,005,358 (GRCm39)	D388G	possibly damaging	Het
Ttn	A	T	2: 76,642,652 (GRCm39)	F13294L	probably damaging	Het
Ube2j1	T	G	4: 33,040,745 (GRCm39)	F84V	probably damaging	Het
Ugt3a1	A	G	15: 9,370,287 (GRCm39)	Q477R	probably damaging	Het
Utf1	T	C	7: 139,523,859 (GRCm39)	S25P	probably benign	Het
Vmn1r184	A	T	7: 25,966,413 (GRCm39)	H53L	probably damaging	Het
Vmn2r13	A	T	5: 109,339,860 (GRCm39)	N38K	possibly damaging	Het
Vps13a	C	T	19: 16,699,775 (GRCm39)	D756N	probably damaging	Het
Vwa1	G	T	4: 155,857,695 (GRCm39)	D34E	probably damaging	Het
Zfhx2	A	C	14: 55,301,774 (GRCm39)	L2070R	probably damaging	Het
Zfp984	A	G	4: 147,840,362 (GRCm39)	V163A	probably benign	Het
Zp3r	A	T	1: 130,511,208 (GRCm39)	M325K	probably benign	Het

Other mutations in Pet100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2143:Pet100	UTSW	8	3,672,355 (GRCm39)	missense	probably damaging	1.00
R2144:Pet100	UTSW	8	3,672,355 (GRCm39)	missense	probably damaging	1.00
R6120:Pet100	UTSW	8	3,671,764 (GRCm39)	splice site	probably null
R6377:Pet100	UTSW	8	3,672,370 (GRCm39)	missense	probably benign	0.00
R9723:Pet100	UTSW	8	3,672,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCTTGATCATGAAAACCAGG -3'
(R):5'- CTGTGGAACAAAGTCACAGGTG -3'

Sequencing Primer
(F):5'- TCATGAAAACCAGGCTTTAAGGTGC -3'
(R):5'- CAAAGTCACAGGTGAGAACAC -3'

Posted On

2016-10-24