Mutagenetix > Incidental Mutation

Incidental Mutation 'R4991:Cox6b2'

455802

Institutional Source

Beutler Lab

Gene Symbol

Cox6b2

Ensembl Gene

ENSMUSG00000051811

Gene Name

cytochrome c oxidase subunit 6B2

Synonyms

COXVIB2, 1700067P11Rik

MMRRC Submission

042585-MU

Accession Numbers

Essential gene?

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

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4754791-4756093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4755160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

Ref Sequence

ENSEMBL: ENSMUSP00000138709 (fasta)

Gene Model

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

AlphaFold

Q80ZN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000063324
AA Change: D38G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811
AA Change: D38G

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 damaging
Transcript: ENSMUST00000182048
AA Change: D38G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811
AA Change: D38G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182173
AA Change: D38G

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

SMART Domains

Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811
AA Change: D38G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183971
AA Change: D38G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811
AA Change: D38G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182738
AA Change: D38G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811
AA Change: D38G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184143
AA Change: D38G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811
AA Change: D38G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182272

Predicted Effect

unknown
Transcript: ENSMUST00000183334
AA Change: T42A

Predicted Effect

probably damaging
Transcript: ENSMUST00000182111
AA Change: D38G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811
AA Change: D38G

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

Meta Mutation Damage Score

0.6396

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 56,010,922 (GRCm39)	T665K	probably benign	Het
Adgrf3	C	T	5: 30,404,146 (GRCm39)	V369M	probably benign	Het
Als2	T	C	1: 59,246,927 (GRCm39)	K571E	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Asb14	T	C	14: 26,637,015 (GRCm39)	S586P	probably damaging	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Chmp4b	A	G	2: 154,534,545 (GRCm39)	E187G	probably benign	Het
Cpm	G	A	10: 117,504,008 (GRCm39)	C138Y	probably damaging	Het
Csmd3	G	T	15: 47,864,874 (GRCm39)	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,061,983 (GRCm39)	N506K	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Ebf2	A	T	14: 67,627,106 (GRCm39)	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gm19684	A	G	17: 36,438,364 (GRCm39)		probably benign	Het
Gm29106	T	C	1: 118,106,121 (GRCm39)	M37T	probably benign	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hdac5	T	A	11: 102,096,450 (GRCm39)	E252D	probably damaging	Het
Ifitm3	A	T	7: 140,590,372 (GRCm39)	F63I	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,324,849 (GRCm39)	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,130,637 (GRCm39)	D418G	probably benign	Het
Kif1a	T	C	1: 93,006,530 (GRCm39)	T46A	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,932 (GRCm39)	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847 (GRCm39)	S348A	probably benign	Het
Mog	T	C	17: 37,328,381 (GRCm39)		probably null	Het
Mtmr7	A	G	8: 41,007,386 (GRCm39)	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,878,122 (GRCm39)	K134E	probably benign	Het
Nbeal2	C	T	9: 110,467,835 (GRCm39)	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,553,584 (GRCm39)	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Or5af2	T	C	11: 58,708,544 (GRCm39)	S237P	probably damaging	Het
Or5b97	T	G	19: 12,878,815 (GRCm39)	T110P	probably damaging	Het
Or5m8	A	G	2: 85,822,631 (GRCm39)	M157V	probably damaging	Het
Osgin1	A	G	8: 120,172,028 (GRCm39)	E274G	probably damaging	Het
Otof	G	A	5: 30,551,525 (GRCm39)	R343W	probably damaging	Het
Pcdha9	A	T	18: 37,131,398 (GRCm39)	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pira12	T	G	7: 3,898,571 (GRCm39)	Q292H	probably benign	Het
Samd4	A	T	14: 47,311,467 (GRCm39)	S262C	probably damaging	Het
Snap91	T	C	9: 86,672,207 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
St3gal4	A	G	9: 34,964,432 (GRCm39)	V190A	possibly damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Tmem201	A	T	4: 149,812,612 (GRCm39)	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,711,644 (GRCm39)	S60P	probably benign	Het
Trpa1	T	C	1: 14,980,970 (GRCm39)	Y144C	probably benign	Het
U90926	G	A	5: 92,357,879 (GRCm39)	P91S	probably benign	Het
Utp20	G	T	10: 88,582,796 (GRCm39)	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,260,697 (GRCm39)	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,400,338 (GRCm39)	L237S	probably damaging	Het
Washc5	A	G	15: 59,215,929 (GRCm39)	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,332,614 (GRCm39)		probably null	Het
Zfp212	G	A	6: 47,903,796 (GRCm39)	R127H	probably damaging	Het
Zfp268	C	A	4: 145,348,904 (GRCm39)	Q114K	probably benign	Het
Zfp740	G	T	15: 102,116,714 (GRCm39)		probably null	Het

Other mutations in Cox6b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Cox6b2	APN	7	4,754,929 (GRCm39)	nonsense	probably null
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
R9047:Cox6b2	UTSW	7	4,755,086 (GRCm39)	missense	probably benign	0.10
Z1176:Cox6b2	UTSW	7	4,755,146 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATCTGCTCATTCCAGCGC -3'
(R):5'- AAGGTGATGGAGCTCAGTCC -3'

Sequencing Primer
(F):5'- ATTCCAGCGCTGCACCTG -3'
(R):5'- TGGAGCTCAGTCCAGGAG -3'

Posted On

2017-02-14