Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01947:Cox6b2'

181276

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cox6b2

Ensembl Gene

ENSMUSG00000051811

Gene Name

cytochrome c oxidase subunit 6B2

Synonyms

COXVIB2, 1700067P11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL01947

Quality Score

Status

Chromosome

Chromosomal Location

4754791-4756093 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4754929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 77 (K77*)

Ref Sequence

ENSEMBL: ENSMUSP00000138911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000098853] [ENSMUST00000108582] [ENSMUST00000108583] [ENSMUST00000163574] [ENSMUST00000174409] [ENSMUST00000182048] [ENSMUST00000182111] [ENSMUST00000183971] [ENSMUST00000182738] [ENSMUST00000184143] [ENSMUST00000183334] [ENSMUST00000182173]

AlphaFold

Q80ZN9

Predicted Effect

probably null
Transcript: ENSMUST00000063324
AA Change: K87*

SMART Domains

Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811
AA Change: K87*

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098853

SMART Domains

Protein: ENSMUSP00000096452
Gene: ENSMUSG00000059851

Domain	Start	End	E-Value	Type
Blast:SET	6	50	1e-10	BLAST
SET	110	224	1.17e-14	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108582

SMART Domains

Protein: ENSMUSP00000104223
Gene: ENSMUSG00000059851

Domain	Start	End	E-Value	Type
Blast:SET	6	50	1e-10	BLAST
SET	110	224	1.17e-14	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108583

SMART Domains

Protein: ENSMUSP00000104224
Gene: ENSMUSG00000059851

Domain	Start	End	E-Value	Type
Blast:SET	6	50	1e-10	BLAST
SET	110	224	1.17e-14	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163574

SMART Domains

Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174409

SMART Domains

Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:DUF3699	93	168	5.8e-24	PFAM
low complexity region	277	291	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000182048
AA Change: K87*

SMART Domains

Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811
AA Change: K87*

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000182111
AA Change: K87*

SMART Domains

Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811
AA Change: K87*

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	85	2.7e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000183971
AA Change: K77*

SMART Domains

Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811
AA Change: K77*

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	75	1.7e-10	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000182738

SMART Domains

Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	74	5.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182272

Predicted Effect

probably benign
Transcript: ENSMUST00000184143

SMART Domains

Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	60	2.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183334

Predicted Effect

probably benign
Transcript: ENSMUST00000182173

SMART Domains

Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811

Domain	Start	End	E-Value	Type
Pfam:COX6B	21	74	5e-18	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,428 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,033,847 (GRCm39)		probably benign	Het
Atic	C	T	1: 71,609,996 (GRCm39)		probably benign	Het
Avpr1a	T	C	10: 122,288,087 (GRCm39)	V365A	probably benign	Het
Brd7	A	G	8: 89,059,503 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,845,579 (GRCm39)	N332D	probably damaging	Het
Cdh20	C	T	1: 104,921,649 (GRCm39)	P649S	possibly damaging	Het
Cgnl1	T	C	9: 71,632,326 (GRCm39)	T342A	probably damaging	Het
Chst10	A	G	1: 38,904,646 (GRCm39)	L349P	probably damaging	Het
Crnkl1	G	A	2: 145,763,744 (GRCm39)	A498V	probably benign	Het
Cux1	A	G	5: 136,303,979 (GRCm39)	L1394P	probably benign	Het
Dapp1	T	C	3: 137,641,404 (GRCm39)	Y197C	probably damaging	Het
Dcc	A	G	18: 71,959,280 (GRCm39)	I164T	probably benign	Het
Disp3	T	A	4: 148,344,976 (GRCm39)	I472F	probably damaging	Het
Gm10392	A	T	11: 77,408,306 (GRCm39)	D104E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gpd1	A	G	15: 99,618,112 (GRCm39)	I143V	possibly damaging	Het
Hmcn1	T	A	1: 150,608,643 (GRCm39)	N1513I	possibly damaging	Het
Jakmip2	T	C	18: 43,680,159 (GRCm39)	I733V	probably benign	Het
Klhl12	T	A	1: 134,391,689 (GRCm39)	L107H	probably damaging	Het
Lcn8	A	G	2: 25,545,157 (GRCm39)	D109G	probably damaging	Het
Maz	A	T	7: 126,623,614 (GRCm39)		probably null	Het
Mttp	T	A	3: 137,812,890 (GRCm39)	D595V	probably damaging	Het
Mymk	A	C	2: 26,956,406 (GRCm39)	L58R	possibly damaging	Het
Nckap1	A	C	2: 80,339,097 (GRCm39)	I977S	probably damaging	Het
Nckap1l	A	T	15: 103,399,442 (GRCm39)	I1021F	probably benign	Het
Or12d2	A	T	17: 37,624,556 (GRCm39)	C240S	probably damaging	Het
Or4f14b	A	T	2: 111,775,339 (GRCm39)	M154K	probably benign	Het
Or4f6	A	T	2: 111,839,361 (GRCm39)	S57T	possibly damaging	Het
Or6c38	G	A	10: 128,929,747 (GRCm39)	T32I	possibly damaging	Het
Pde5a	T	A	3: 122,629,259 (GRCm39)	F644L	probably damaging	Het
Pdzd2	A	G	15: 12,592,440 (GRCm39)	I68T	probably damaging	Het
Pik3r4	T	A	9: 105,563,349 (GRCm39)	V1242D	possibly damaging	Het
Ppp6r2	G	T	15: 89,162,929 (GRCm39)	W517L	probably damaging	Het
Scrib	A	T	15: 75,933,616 (GRCm39)	I703K	probably benign	Het
Serpina1b	T	C	12: 103,695,576 (GRCm39)	S322G	probably benign	Het
Siglecg	C	A	7: 43,058,187 (GRCm39)	Q25K	probably benign	Het
Slc12a3	G	A	8: 95,092,447 (GRCm39)		probably null	Het
Slc6a13	G	T	6: 121,302,116 (GRCm39)		probably null	Het
Stard13	A	T	5: 150,986,309 (GRCm39)	D282E	probably damaging	Het
Tpte	A	T	8: 22,845,489 (GRCm39)	Y513F	possibly damaging	Het
Ubox5	T	A	2: 130,442,579 (GRCm39)	K36I	possibly damaging	Het

Other mutations in Cox6b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1755:Cox6b2	UTSW	7	4,754,937 (GRCm39)	missense	probably damaging	1.00
R4231:Cox6b2	UTSW	7	4,755,834 (GRCm39)	start codon destroyed	probably null	0.53
R4775:Cox6b2	UTSW	7	4,755,074 (GRCm39)	missense	probably damaging	1.00
R4991:Cox6b2	UTSW	7	4,755,160 (GRCm39)	missense	probably damaging	1.00
R9047:Cox6b2	UTSW	7	4,755,086 (GRCm39)	missense	probably benign	0.10
Z1176:Cox6b2	UTSW	7	4,755,146 (GRCm39)	missense	probably benign

Posted On

2014-05-07