Mutagenetix > Incidental Mutation

Incidental Mutation 'R7908:Coq6'

610304

Institutional Source

Beutler Lab

Gene Symbol

Coq6

Ensembl Gene

ENSMUSG00000021235

Gene Name

coenzyme Q6 monooxygenase

Synonyms

5930427M12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7908 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84408530-84420570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84417940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 268 (L268H)

Ref Sequence

ENSEMBL: ENSMUSP00000021661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021661] [ENSMUST00000021662] [ENSMUST00000072061] [ENSMUST00000110272] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000120942] [ENSMUST00000152913]

AlphaFold

Q8R1S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021661
AA Change: L268H

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

SMART Domains

Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
AA Change: L268H

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: ENSMUST00000021662

SMART Domains

Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072061

SMART Domains

Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236

Domain	Start	End	E-Value	Type
transmembrane domain	27	46	N/A	INTRINSIC
Pfam:GDA1_CD39	65	451	1.9e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110272

SMART Domains

Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110276
AA Change: L268H

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

SMART Domains

Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
AA Change: L268H

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 damaging
Transcript: ENSMUST00000110278
AA Change: L268H

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

SMART Domains

Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
AA Change: L268H

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

probably benign
Transcript: ENSMUST00000120942

SMART Domains

Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145522

SMART Domains

Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235

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

probably damaging
Transcript: ENSMUST00000152913
AA Change: L268H

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

SMART Domains

Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
AA Change: L268H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,577 (GRCm39)	F69L	probably benign	Het
Acsf3	A	G	8: 123,512,562 (GRCm39)	M328V	probably damaging	Het
Adam10	T	G	9: 70,669,046 (GRCm39)	V454G	possibly damaging	Het
Adamts15	T	C	9: 30,813,522 (GRCm39)	D881G	probably benign	Het
Adamtsl1	T	C	4: 86,274,676 (GRCm39)	V1244A	probably benign	Het
Ankfn1	G	A	11: 89,296,360 (GRCm39)	P123L	probably damaging	Het
Aox1	T	C	1: 58,145,227 (GRCm39)	I1331T	possibly damaging	Het
Atg14	T	A	14: 47,806,050 (GRCm39)		probably benign	Het
Bmal1	A	T	7: 112,912,680 (GRCm39)	I579L	probably benign	Het
Btnl4	A	G	17: 34,692,161 (GRCm39)	M147T	possibly damaging	Het
Camk1g	T	C	1: 193,042,082 (GRCm39)	K56E	probably damaging	Het
Capn7	T	C	14: 31,088,202 (GRCm39)		probably null	Het
Cbln1	T	A	8: 88,198,724 (GRCm39)	T49S	probably benign	Het
Cc2d2a	T	C	5: 43,864,188 (GRCm39)	V763A	probably benign	Het
Cdc40	A	G	10: 40,724,042 (GRCm39)	Y249H	probably damaging	Het
Cfap61	T	A	2: 145,944,019 (GRCm39)	L762H	probably damaging	Het
Cfap68	T	A	9: 50,675,248 (GRCm39)	T153S	possibly damaging	Het
Cfap73	T	C	5: 120,768,123 (GRCm39)	T212A	probably benign	Het
Cfi	A	G	3: 129,642,233 (GRCm39)	E29G	probably benign	Het
Chmp6	A	T	11: 119,804,656 (GRCm39)		probably benign	Het
Clec14a	T	C	12: 58,314,465 (GRCm39)	T386A	possibly damaging	Het
Cpt1a	T	C	19: 3,412,202 (GRCm39)	S225P	probably benign	Het
Dhx58	C	A	11: 100,586,130 (GRCm39)	L630F	probably damaging	Het
Dlg2	T	A	7: 91,549,981 (GRCm39)	V158E	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,921 (GRCm39)	Y1168F	probably benign	Het
Foxd3	A	G	4: 99,545,576 (GRCm39)	T239A	probably benign	Het
Galnt6	T	C	15: 100,601,242 (GRCm39)	T346A	probably damaging	Het
Guca1b	C	G	17: 47,702,102 (GRCm39)	T185S	unknown	Het
H2-M5	T	C	17: 37,298,571 (GRCm39)	T292A	probably benign	Het
Hlx	T	C	1: 184,459,773 (GRCm39)	H455R	probably benign	Het
Hydin	A	G	8: 111,237,499 (GRCm39)	Y1924C	probably benign	Het
Ighg2b	C	T	12: 113,270,074 (GRCm39)	V315M		Het
Ildr2	A	G	1: 166,135,369 (GRCm39)	K374E	probably damaging	Het
Jmjd1c	T	C	10: 67,061,621 (GRCm39)	S1144P	probably benign	Het
Kcnj8	T	C	6: 142,511,755 (GRCm39)	D284G	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Lingo4	A	G	3: 94,309,541 (GRCm39)	T160A	probably benign	Het
Lmod3	G	T	6: 97,225,434 (GRCm39)	A129E	probably benign	Het
Lrrk2	T	C	15: 91,610,355 (GRCm39)	C696R	probably damaging	Het
Mc2r	A	G	18: 68,541,036 (GRCm39)	F86L	probably benign	Het
Mppe1	T	G	18: 67,362,055 (GRCm39)	K170T	probably benign	Het
Mtcl1	A	G	17: 66,678,325 (GRCm39)	I667T	possibly damaging	Het
Mtnr1a	A	T	8: 45,540,863 (GRCm39)	I275F	probably benign	Het
Myh2	A	G	11: 67,088,197 (GRCm39)	I1938V	probably benign	Het
Npsr1	A	T	9: 24,201,096 (GRCm39)	E160V	probably damaging	Het
Or13c7b	T	A	4: 43,821,086 (GRCm39)	I92F	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or6c3	T	A	10: 129,308,867 (GRCm39)	I102N	probably damaging	Het
Ovch2	T	A	7: 107,388,326 (GRCm39)	Y418F	probably damaging	Het
Pak5	A	G	2: 135,958,479 (GRCm39)	L203S	probably benign	Het
Pcdh15	A	T	10: 74,479,414 (GRCm39)	E508D	probably benign	Het
Prl7a1	T	C	13: 27,826,433 (GRCm39)	M1V	probably null	Het
Prorp	A	T	12: 55,426,250 (GRCm39)	K533N	possibly damaging	Het
Prpsap2	G	T	11: 61,647,098 (GRCm39)	N14K	possibly damaging	Het
Rad54b	T	A	4: 11,595,868 (GRCm39)	V215E	probably null	Het
Ryr2	G	A	13: 11,807,634 (GRCm39)	T845I	probably benign	Het
Scgb2b3	G	A	7: 31,061,439 (GRCm39)	T20I	probably damaging	Het
Serpina1b	T	C	12: 103,694,566 (GRCm39)	I393V	possibly damaging	Het
Slc13a5	T	C	11: 72,149,890 (GRCm39)	M207V	probably benign	Het
Slc49a3	T	C	5: 108,592,363 (GRCm39)	I276V	probably benign	Het
Smg1	A	T	7: 117,785,357 (GRCm39)	L843M	unknown	Het
Sp100	T	C	1: 85,635,788 (GRCm39)	V531A	possibly damaging	Het
Srsf6	T	C	2: 162,775,760 (GRCm39)	S190P	unknown	Het
Stil	A	G	4: 114,889,896 (GRCm39)	K795E	possibly damaging	Het
Sugp2	A	G	8: 70,704,577 (GRCm39)	R705G	probably benign	Het
Tnfrsf11a	T	A	1: 105,737,099 (GRCm39)	C69S	probably damaging	Het
Trim30a	A	T	7: 104,070,656 (GRCm39)	N252K	probably benign	Het
Tshz1	T	A	18: 84,032,732 (GRCm39)	K559*	probably null	Het
Ttbk1	C	T	17: 46,789,864 (GRCm39)	R133H	probably damaging	Het
Vmn1r1	T	C	1: 181,984,915 (GRCm39)	Y250C	probably benign	Het
Vmn2r12	A	G	5: 109,234,307 (GRCm39)	L635P	probably damaging	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vwa5b1	A	T	4: 138,296,481 (GRCm39)	L1182*	probably null	Het
Washc2	A	G	6: 116,225,106 (GRCm39)	D818G	probably benign	Het
Xylb	T	G	9: 119,210,611 (GRCm39)	S365A	probably benign	Het
Zcchc8	T	C	5: 123,858,783 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,345,986 (GRCm39)	I1455T	possibly damaging	Het

Other mutations in Coq6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0508:Coq6	UTSW	12	84,414,913 (GRCm39)	splice site	probably benign
R0607:Coq6	UTSW	12	84,415,412 (GRCm39)	missense	possibly damaging	0.95
R1221:Coq6	UTSW	12	84,418,301 (GRCm39)	missense	possibly damaging	0.96
R1885:Coq6	UTSW	12	84,419,238 (GRCm39)	missense	probably damaging	1.00
R1898:Coq6	UTSW	12	84,413,737 (GRCm39)	missense	probably benign	0.38
R3153:Coq6	UTSW	12	84,418,309 (GRCm39)	missense	probably damaging	1.00
R3824:Coq6	UTSW	12	84,419,189 (GRCm39)	splice site	probably benign
R4015:Coq6	UTSW	12	84,413,671 (GRCm39)	missense	probably benign	0.00
R4241:Coq6	UTSW	12	84,420,563 (GRCm39)	utr 3 prime	probably benign
R4285:Coq6	UTSW	12	84,417,178 (GRCm39)	intron	probably benign
R4353:Coq6	UTSW	12	84,414,923 (GRCm39)	missense	probably damaging	0.99
R4598:Coq6	UTSW	12	84,408,913 (GRCm39)	missense	probably benign	0.00
R4599:Coq6	UTSW	12	84,408,913 (GRCm39)	missense	probably benign	0.00
R4868:Coq6	UTSW	12	84,417,726 (GRCm39)	missense	probably damaging	0.99
R4887:Coq6	UTSW	12	84,419,070 (GRCm39)	missense	probably damaging	1.00
R5567:Coq6	UTSW	12	84,415,413 (GRCm39)	missense	probably benign	0.10
R5570:Coq6	UTSW	12	84,415,413 (GRCm39)	missense	probably benign	0.10
R5715:Coq6	UTSW	12	84,413,681 (GRCm39)	missense	probably benign	0.10
R6608:Coq6	UTSW	12	84,418,922 (GRCm39)	missense	probably benign	0.00
R7035:Coq6	UTSW	12	84,415,415 (GRCm39)	missense	probably damaging	0.99
R7096:Coq6	UTSW	12	84,408,595 (GRCm39)	critical splice donor site	probably null
R7851:Coq6	UTSW	12	84,418,929 (GRCm39)	missense	possibly damaging	0.57
R9432:Coq6	UTSW	12	84,420,464 (GRCm39)	missense	probably benign	0.01
Z1176:Coq6	UTSW	12	84,417,737 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AGTACGACCAGTCTGCTGTG -3'
(R):5'- TAATCACAGTAGGCAGTGGCAG -3'

Sequencing Primer
(F):5'- ACCAGTCTGCTGTGGTGGC -3'
(R):5'- TGGGGACAGTTCTGAAAGCC -3'

Posted On

2019-12-20