Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Coq6'

451135

Institutional Source

Beutler Lab

Gene Symbol

Coq6

Ensembl Gene

ENSMUSG00000021235

Gene Name

coenzyme Q6 monooxygenase

Synonyms

5930427M12Rik

MMRRC Submission

043336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84361657-84373796 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84366907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 70 (D70E)

Ref Sequence

ENSEMBL: ENSMUSP00000115676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021661] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000152913]

AlphaFold

Q8R1S0

Predicted Effect

probably benign
Transcript: ENSMUST00000021661
AA Change: D70E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
AA Change: D70E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	3.9e-8	PFAM
Pfam:FAD_binding_3	334	435	1.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110276
AA Change: D70E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
AA Change: D70E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	5.1e-8	PFAM
Pfam:FAD_binding_3	334	435	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110278
AA Change: D70E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
AA Change: D70E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	6.8e-8	PFAM
Pfam:FAD_binding_3	334	410	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140961

Predicted Effect

unknown
Transcript: ENSMUST00000145522
AA Change: D65E

SMART Domains

Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235
AA Change: D65E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SCOP:d1foha5	35	167	2e-6	SMART
PDB:4K22\|B	90	156	3e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150391

Predicted Effect

probably benign
Transcript: ENSMUST00000152913
AA Change: D70E

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
AA Change: D70E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1foha5	39	269	1e-10	SMART
PDB:4K22\|B	94	274	1e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156592

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	T	C	2: 23,207,977	Y56H	possibly damaging	Het
9930111J21Rik2	T	A	11: 49,019,950	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,628,614	D147E	probably benign	Het
Atg4c	G	T	4: 99,258,402	L405F	probably damaging	Het
Birc6	C	T	17: 74,631,620	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,434,818	D379G	probably damaging	Het
Chd6	T	C	2: 160,949,878	M2520V	probably benign	Het
Clca4b	A	G	3: 144,913,257	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Col12a1	A	T	9: 79,616,065	C2743*	probably null	Het
Cspg4	T	A	9: 56,891,051	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,413,778	L3847P	probably damaging	Het
Drd2	T	A	9: 49,404,889	H316Q	probably benign	Het
Dusp19	T	A	2: 80,630,986	N206K	probably benign	Het
Fam13c	T	G	10: 70,534,840	F270C	probably damaging	Het
Fam20a	T	C	11: 109,678,431	E246G	probably damaging	Het
Fbxo31	A	G	8: 121,578,563	F65L	probably damaging	Het
Fshr	T	A	17: 88,986,396		probably null	Het
Fstl4	T	C	11: 53,000,416	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,961,597	I75F	probably benign	Het
Gm13128	A	G	4: 144,331,300	D159G	possibly damaging	Het
Grm5	C	A	7: 88,130,256	A968E	probably benign	Het
Gucy2g	A	C	19: 55,233,155	F305V	possibly damaging	Het
Hivep3	T	C	4: 120,096,373	F629L	probably benign	Het
Hoxb1	A	G	11: 96,366,326	E167G	probably benign	Het
Hoxd4	T	C	2: 74,727,364	L29P	probably damaging	Het
Ikbkb	A	G	8: 22,678,850	L211P	probably damaging	Het
Insc	T	C	7: 114,849,841	V499A	probably benign	Het
Irak3	A	T	10: 120,142,736	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 127,142,007	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,953,721	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,823,407	R172Q	probably benign	Het
Macf1	T	C	4: 123,684,014	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,615,155	S68T	probably benign	Het
Mlxip	T	A	5: 123,440,058	W146R	probably damaging	Het
Mpp2	T	A	11: 102,062,261	N285I	probably damaging	Het
Mrgprb4	T	C	7: 48,199,039	N47S	probably damaging	Het
Msi2	A	G	11: 88,386,063	Y237H	probably damaging	Het
Muc4	C	T	16: 32,751,916	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663	I253F	probably damaging	Het
Myo5b	G	T	18: 74,742,175	C1550F	possibly damaging	Het
Nckap5l	T	C	15: 99,423,576	T1137A	probably benign	Het
Neb	T	C	2: 52,251,768	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740	V237E	probably damaging	Het
Olfr622	A	C	7: 103,639,802	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,894,942	K150E	probably damaging	Het
Ptpn23	G	A	9: 110,387,075	R1238W	probably damaging	Het
Pts	C	T	9: 50,522,278	G124R	probably damaging	Het
Rfk	A	T	19: 17,398,638	I99F	probably benign	Het
Rictor	A	T	15: 6,750,716	R151*	probably null	Het
Scn2a	T	A	2: 65,717,584	I1040N	probably benign	Het
Serinc5	A	C	13: 92,706,202	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,346,015	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,158,336	Y656C	probably damaging	Het
Slc26a3	T	A	12: 31,448,843		probably null	Het
Slc3a2	G	T	19: 8,708,230	H168Q	probably benign	Het
Smarca2	A	T	19: 26,649,122	I449L	probably benign	Het
Smarcc1	T	C	9: 110,196,367	V704A	possibly damaging	Het
Sox13	A	G	1: 133,386,183		probably null	Het
Sptbn5	T	C	2: 120,072,504	E7G	probably damaging	Het
Stard10	A	G	7: 101,321,903	D26G	probably damaging	Het
Tap1	A	T	17: 34,192,894	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,059,937	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,923	Y124*	probably null	Het
Tmprss2	T	A	16: 97,568,983	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,479,207	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,045,391	F154I	probably damaging	Het
Ubn2	T	A	6: 38,461,477	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,233	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,344	D193A	probably damaging	Het
Upf1	A	T	8: 70,352,978	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 19,794,939	D447V	probably benign	Het
Vps39	T	C	2: 120,325,236	N519S	possibly damaging	Het
Zfp109	T	C	7: 24,229,570	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,286,239	V157G	possibly damaging	Het

Other mutations in Coq6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0508:Coq6	UTSW	12	84368139	splice site	probably benign
R0607:Coq6	UTSW	12	84368638	missense	possibly damaging	0.95
R1221:Coq6	UTSW	12	84371527	missense	possibly damaging	0.96
R1885:Coq6	UTSW	12	84372464	missense	probably damaging	1.00
R1898:Coq6	UTSW	12	84366963	missense	probably benign	0.38
R3153:Coq6	UTSW	12	84371535	missense	probably damaging	1.00
R3824:Coq6	UTSW	12	84372415	splice site	probably benign
R4015:Coq6	UTSW	12	84366897	missense	probably benign	0.00
R4241:Coq6	UTSW	12	84373789	utr 3 prime	probably benign
R4285:Coq6	UTSW	12	84370404	intron	probably benign
R4353:Coq6	UTSW	12	84368149	missense	probably damaging	0.99
R4598:Coq6	UTSW	12	84362139	missense	probably benign	0.00
R4599:Coq6	UTSW	12	84362139	missense	probably benign	0.00
R4868:Coq6	UTSW	12	84370952	missense	probably damaging	0.99
R4887:Coq6	UTSW	12	84372296	missense	probably damaging	1.00
R5567:Coq6	UTSW	12	84368639	missense	probably benign	0.10
R5570:Coq6	UTSW	12	84368639	missense	probably benign	0.10
R6608:Coq6	UTSW	12	84372148	missense	probably benign	0.00
R7035:Coq6	UTSW	12	84368641	missense	probably damaging	0.99
R7096:Coq6	UTSW	12	84361821	critical splice donor site	probably null
R7851:Coq6	UTSW	12	84372155	missense	possibly damaging	0.57
R7908:Coq6	UTSW	12	84371166	missense	probably damaging	1.00
R9432:Coq6	UTSW	12	84373690	missense	probably benign	0.01
Z1176:Coq6	UTSW	12	84370963	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AACCCCTGGAGCTGGTTTATATTTG -3'
(R):5'- CCTACTGAACTGGAAAGCGG -3'

Sequencing Primer
(F):5'- CTGGAGCTGGTTTATATTTGTTTCTG -3'
(R):5'- TACTGAACTGGAAAGCGGAGGAAAG -3'

Posted On

2017-01-03