Mutagenetix > Incidental Mutation

Incidental Mutation 'R1332:Cox16'

156752

Institutional Source

Beutler Lab

Gene Symbol

Cox16

Ensembl Gene

ENSMUSG00000091803

Gene Name

cytochrome c oxidase assembly protein 16

Synonyms

1810020G14Rik, 1810055I05Rik

MMRRC Submission

039397-MU

Accession Numbers

Essential gene?

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

Stock #

R1332 (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 81519064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 89 (D89G)

Ref Sequence

ENSEMBL: ENSMUSP00000002757 (fasta)

Gene Model

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

AlphaFold

Q9CR63

Predicted Effect

probably damaging
Transcript: ENSMUST00000002757
AA Change: D89G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002757
Gene: ENSMUSG00000091803
AA Change: D89G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163282

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166664
AA Change: D165G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131728
Gene: ENSMUSG00000021139
AA Change: D165G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168961

Predicted Effect

probably benign
Transcript: ENSMUST00000168463

SMART Domains

Protein: ENSMUSP00000127295
Gene: ENSMUSG00000091803

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169124

SMART Domains

Protein: ENSMUSP00000128281
Gene: ENSMUSG00000091803

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171459

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 93.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	T	TNNNNNNNNNNNNNNNNNN	11: 43,478,256 (GRCm39)		probably benign	Het
Abhd14b	A	T	9: 106,329,195 (GRCm39)	I42F	probably damaging	Het
Apbb1	A	T	7: 105,214,750 (GRCm39)	I498N	possibly damaging	Het
Asah2	A	G	19: 32,022,341 (GRCm39)	I231T	probably damaging	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Caskin2	C	T	11: 115,694,171 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,844,784 (GRCm39)	T1428A	probably damaging	Het
Cd22	A	C	7: 30,569,912 (GRCm39)	W477G	possibly damaging	Het
Dnah17	A	G	11: 117,934,041 (GRCm39)	I3511T	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,901 (GRCm39)	Y333N	probably damaging	Het
Eya2	T	C	2: 165,529,528 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,855,167 (GRCm39)	D1892G	probably benign	Het
Hlf	G	T	11: 90,231,679 (GRCm39)	S265*	probably null	Het
Immt	T	C	6: 71,823,256 (GRCm39)		probably benign	Het
Lair1	T	C	7: 4,013,595 (GRCm39)	E36G	possibly damaging	Het
Lrfn5	T	C	12: 61,904,314 (GRCm39)		probably benign	Het
Nos1ap	T	C	1: 170,177,001 (GRCm39)	N134S	probably damaging	Het
Ogfod1	T	C	8: 94,784,727 (GRCm39)	C344R	probably damaging	Het
Or6c212	A	G	10: 129,559,116 (GRCm39)	L99S	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pmfbp1	T	G	8: 110,256,898 (GRCm39)	I534S	probably damaging	Het
Prex2	A	G	1: 11,274,315 (GRCm39)	D1329G	probably damaging	Het
Rasal2	T	C	1: 157,003,391 (GRCm39)	T423A	probably benign	Het
Rif1	T	A	2: 51,968,326 (GRCm39)	W170R	probably benign	Het
Scarb2	C	T	5: 92,599,205 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tlr3	A	C	8: 45,851,774 (GRCm39)	N374K	probably damaging	Het
Uck1	T	C	2: 32,149,666 (GRCm39)	D71G	probably damaging	Het
Vcan	C	T	13: 89,841,174 (GRCm39)	E497K	probably damaging	Het
Vmn2r86	G	A	10: 130,282,739 (GRCm39)	L626F	probably damaging	Het
Vmn2r89	A	G	14: 51,692,559 (GRCm39)	T121A	probably benign	Het
Wdr64	T	C	1: 175,622,706 (GRCm39)	S828P	possibly damaging	Het
Zfp334	A	T	2: 165,222,776 (GRCm39)	H422Q	probably damaging	Het

Other mutations in Cox16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1336:Cox16	UTSW	12	81,519,064 (GRCm39)	missense	probably damaging	1.00
R1489:Cox16	UTSW	12	81,521,389 (GRCm39)	missense	probably null	0.99
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'- GCTACTGCACAACACAGCCTTTTC -3'
(R):5'- GGGTTTTCCTTGACCTGATCACCAC -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtTCAAC -3'
(R):5'- TGACCTGATCACCACTTAGTGATAAC -3'

Posted On

2014-02-11