Mutagenetix > Incidental Mutation

Incidental Mutation 'R1489:Cox16'

163615

Institutional Source

Beutler Lab

Gene Symbol

Cox16

Ensembl Gene

ENSMUSG00000091803

Gene Name

cytochrome c oxidase assembly protein 16

Synonyms

1810020G14Rik, 1810055I05Rik

MMRRC Submission

039541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81405800-81531901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81521389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 135 (N135S)

Ref Sequence

ENSEMBL: ENSMUSP00000131728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002757] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166664] [ENSMUST00000166723] [ENSMUST00000168463] [ENSMUST00000169124] [ENSMUST00000171459]

AlphaFold

Q9CR63

Predicted Effect

probably null
Transcript: ENSMUST00000002757
AA Change: N59S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000002757
Gene: ENSMUSG00000091803
AA Change: N59S

Domain	Start	End	E-Value	Type
Pfam:COX16	16	88	1.8e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110340
AA Change: N59S

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803
AA Change: N59S

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163282

Predicted Effect

probably null
Transcript: ENSMUST00000164386
AA Change: N135S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139
AA Change: N135S

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166664
AA Change: N135S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131728
Gene: ENSMUSG00000021139
AA Change: N135S

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166723
AA Change: N59S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803
AA Change: N59S

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167819

Predicted Effect

probably null
Transcript: ENSMUST00000168463
AA Change: N59S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127295
Gene: ENSMUSG00000091803
AA Change: N59S

Domain	Start	End	E-Value	Type
Pfam:COX16	16	78	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169124
AA Change: N59S

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128281
Gene: ENSMUSG00000091803
AA Change: N59S

Domain	Start	End	E-Value	Type
Pfam:COX16	16	69	3.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171237

Predicted Effect

probably benign
Transcript: ENSMUST00000171459

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,106,295 (GRCm39)	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,362,654 (GRCm39)	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,736,300 (GRCm39)		probably null	Het
Adam39	A	G	8: 41,278,031 (GRCm39)	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,455,071 (GRCm39)	S629R	probably benign	Het
Ap3b2	C	A	7: 81,113,438 (GRCm39)	E924*	probably null	Het
Armc3	A	T	2: 19,314,858 (GRCm39)	Y856F	probably benign	Het
Asap1	A	G	15: 64,044,579 (GRCm39)	L142P	probably damaging	Het
Atg9a	T	A	1: 75,162,734 (GRCm39)	D427V	probably damaging	Het
Atl2	G	A	17: 80,160,135 (GRCm39)	A17V	probably benign	Het
Atxn2l	A	T	7: 126,095,639 (GRCm39)	S379T	probably damaging	Het
C1ql3	G	T	2: 13,015,453 (GRCm39)	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,763,111 (GRCm39)	I114F	probably damaging	Het
Ccdc168	A	G	1: 44,096,950 (GRCm39)	F1383L	probably benign	Het
Ccdc168	T	C	1: 44,100,667 (GRCm39)	I144V	probably benign	Het
Dnajc13	A	T	9: 104,108,234 (GRCm39)	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,424,835 (GRCm39)	Y73*	probably null	Het
Duox2	T	A	2: 122,123,877 (GRCm39)	M436L	probably benign	Het
Exoc6	T	A	19: 37,585,568 (GRCm39)	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,702,829 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,195,557 (GRCm39)	V419E	unknown	Het
Fndc4	T	C	5: 31,450,795 (GRCm39)	*232W	probably null	Het
Foxc1	C	T	13: 31,992,595 (GRCm39)	R469*	probably null	Het
Fsip2	A	G	2: 82,810,155 (GRCm39)	H2158R	probably benign	Het
Ghdc	C	T	11: 100,659,083 (GRCm39)	G373D	probably benign	Het
Gm10330	A	T	12: 23,830,032 (GRCm39)	S50T	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,690,108 (GRCm39)	V650A	probably damaging	Het
Map1a	T	C	2: 121,130,918 (GRCm39)	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,229,740 (GRCm39)	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,264,976 (GRCm39)	K175R	probably benign	Het
Mia3	A	G	1: 183,120,121 (GRCm39)	S85P	probably benign	Het
Myrip	T	C	9: 120,261,595 (GRCm39)	F403L	probably damaging	Het
Nox4	A	G	7: 86,954,097 (GRCm39)	Y134C	probably damaging	Het
Numb	A	G	12: 83,842,217 (GRCm39)	L642P	probably damaging	Het
Pappa	A	T	4: 65,099,185 (GRCm39)	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,575,593 (GRCm39)	L333P	probably benign	Het
Prl	A	T	13: 27,241,619 (GRCm39)	S3C	probably damaging	Het
Ptprc	T	C	1: 138,047,824 (GRCm39)	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc7a7	C	T	14: 54,646,103 (GRCm39)	R120H	probably damaging	Het
Smpd1	T	C	7: 105,205,761 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,058,891 (GRCm39)	E1942G	probably damaging	Het
Tmem38a	A	G	8: 73,333,479 (GRCm39)	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,510,524 (GRCm39)	Y232*	probably null	Het
Tpte	T	C	8: 22,839,405 (GRCm39)		probably null	Het
Virma	T	C	4: 11,521,164 (GRCm39)	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,453,981 (GRCm39)	Q216*	probably null	Het
Zswim3	T	C	2: 164,661,901 (GRCm39)	V127A	probably benign	Het

Other mutations in Cox16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1332:Cox16	UTSW	12	81,519,064 (GRCm39)	missense	probably damaging	1.00
R1336:Cox16	UTSW	12	81,519,064 (GRCm39)	missense	probably damaging	1.00
R4079:Cox16	UTSW	12	81,521,109 (GRCm39)	unclassified	probably benign
R4284:Cox16	UTSW	12	81,521,293 (GRCm39)	splice site	probably null
R5509:Cox16	UTSW	12	81,519,032 (GRCm39)	missense	probably benign	0.00
R5538:Cox16	UTSW	12	81,531,703 (GRCm39)	missense	possibly damaging	0.92
R6356:Cox16	UTSW	12	81,519,115 (GRCm39)	missense	probably damaging	1.00
R7126:Cox16	UTSW	12	81,518,940 (GRCm39)	missense	probably benign	0.01
R7594:Cox16	UTSW	12	81,521,352 (GRCm39)	splice site	probably null
R8267:Cox16	UTSW	12	81,527,713 (GRCm39)	missense	probably benign	0.00
R9447:Cox16	UTSW	12	81,406,109 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCTCACTGTCTAATACCCGGTGCTA -3'
(R):5'- ccaggctcagctCTCCTATGACTTT -3'

Sequencing Primer
(F):5'- CTGTCTAATACCCGGTGCTATAGAAC -3'
(R):5'- ccttcccctaactcttccac -3'

Posted On

2014-03-28