Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Coq6'

345463

Institutional Source

Beutler Lab

Gene Symbol

Coq6

Ensembl Gene

ENSMUSG00000021235

Gene Name

coenzyme Q6 monooxygenase

Synonyms

5930427M12Rik

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4599 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

84361657-84373796 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84362139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000115676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021659] [ENSMUST00000021661] [ENSMUST00000065536] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000152913]

AlphaFold

Q8R1S0

Predicted Effect

probably benign
Transcript: ENSMUST00000021659

SMART Domains

Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC
Pfam:UPF0564	168	535	5.3e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021661
AA Change: V30A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
AA Change: V30A

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: ENSMUST00000065536

SMART Domains

Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC
Pfam:UPF0564	168	535	8.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110276
AA Change: V30A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
AA Change: V30A

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: V30A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
AA Change: V30A

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: ENSMUST00000133230

Predicted Effect

unknown
Transcript: ENSMUST00000145522
AA Change: V25A

SMART Domains

Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235
AA Change: V25A

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: V30A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
AA Change: V30A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	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
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
R5715:Coq6	UTSW	12	84366907	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'- TTTTGAAGACAGGGCTAAAACC -3'
(R):5'- TGAGCAAAGCACCAGGTCAG -3'

Sequencing Primer
(F):5'- CACACAAGGTTGACGACTGC -3'
(R):5'- ACCAGGTCAGGCACGTTAG -3'

Posted On

2015-09-25