Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03229:Coq4'

413831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Coq4

Ensembl Gene

ENSMUSG00000026798

Gene Name

coenzyme Q4

Synonyms

D2Ertd97e, EST-MNCb4625

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03229

Quality Score

Status

Chromosome

Chromosomal Location

29677505-29687947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29678497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 41 (D41G)

Ref Sequence

ENSEMBL: ENSMUSP00000135687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028137] [ENSMUST00000048044] [ENSMUST00000113807] [ENSMUST00000143616] [ENSMUST00000148791] [ENSMUST00000176348] [ENSMUST00000177467] [ENSMUST00000176312] [ENSMUST00000156846] [ENSMUST00000177133]

AlphaFold

Q8BGB8

Predicted Effect

probably benign
Transcript: ENSMUST00000028137
AA Change: D41G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798
AA Change: D41G

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	259	1.2e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048044

SMART Domains

Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826

Domain	Start	End	E-Value	Type
Pfam:TruB_N	84	233	1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113803

Predicted Effect

probably benign
Transcript: ENSMUST00000113807

SMART Domains

Protein: ENSMUSP00000109438
Gene: ENSMUSG00000039826

Domain	Start	End	E-Value	Type
Pfam:TruB_N	84	180	5.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142694

Predicted Effect

probably benign
Transcript: ENSMUST00000143616
AA Change: D41G

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

SMART Domains

Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798
AA Change: D41G

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	135	2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148791
AA Change: D41G

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

SMART Domains

Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798
AA Change: D41G

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	200	6.9e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176348
AA Change: D41G

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

SMART Domains

Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798
AA Change: D41G

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	135	2e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175644

Predicted Effect

probably benign
Transcript: ENSMUST00000177467

SMART Domains

Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826

Domain	Start	End	E-Value	Type
Pfam:TruB_N	84	187	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176312

Predicted Effect

probably benign
Transcript: ENSMUST00000156846

Predicted Effect

probably benign
Transcript: ENSMUST00000177133

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,990,936 (GRCm39)	I832T	probably damaging	Het
Adcyap1r1	T	C	6: 55,455,108 (GRCm39)	S124P	probably damaging	Het
Ccn3	A	G	15: 54,612,704 (GRCm39)	T238A	probably benign	Het
Cpb1	A	T	3: 20,304,001 (GRCm39)	Y354*	probably null	Het
Dip2b	T	C	15: 100,105,719 (GRCm39)		probably benign	Het
Dmxl2	C	T	9: 54,311,456 (GRCm39)	R1755H	probably damaging	Het
Dyrk4	G	T	6: 126,863,605 (GRCm39)		probably benign	Het
E2f7	T	C	10: 110,590,207 (GRCm39)	V120A	probably benign	Het
Fsip2	A	T	2: 82,808,420 (GRCm39)	I1580F	possibly damaging	Het
Gm9755	C	A	8: 67,967,324 (GRCm39)		noncoding transcript	Het
Gprc6a	T	G	10: 51,492,699 (GRCm39)	N480T	probably damaging	Het
H2ac20	C	T	3: 96,127,953 (GRCm39)	A70T	probably damaging	Het
H2-T9	C	T	17: 36,438,614 (GRCm39)	G259E	probably damaging	Het
Hdlbp	T	C	1: 93,357,909 (GRCm39)	I331V	probably benign	Het
Heatr6	G	T	11: 83,672,271 (GRCm39)	G1093V	probably benign	Het
Kri1	T	C	9: 21,193,366 (GRCm39)	E162G	probably damaging	Het
Nckipsd	T	C	9: 108,688,813 (GRCm39)	V116A	probably benign	Het
Nek10	A	G	14: 14,986,686 (GRCm38)	H997R	probably benign	Het
Nxph1	A	G	6: 9,247,830 (GRCm39)	Y267C	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or8k40	A	T	2: 86,584,360 (GRCm39)	C241S	probably damaging	Het
Ppip5k2	A	T	1: 97,656,686 (GRCm39)	V829E	probably damaging	Het
Prkcz	A	C	4: 155,346,963 (GRCm39)	S573A	probably benign	Het
Prl2c1	T	A	13: 28,040,612 (GRCm39)		probably benign	Het
Rgs22	T	A	15: 36,015,925 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,130,057 (GRCm39)	I1253F	probably damaging	Het
Tarm1	A	G	7: 3,545,413 (GRCm39)	C146R	probably damaging	Het
Tor2a	A	T	2: 32,649,704 (GRCm39)	I189F	probably damaging	Het
Trappc9	A	T	15: 72,930,305 (GRCm39)	L17Q	probably damaging	Het
Trim45	T	A	3: 100,830,385 (GRCm39)	L53Q	probably damaging	Het
Ubr7	T	C	12: 102,735,414 (GRCm39)	L291P	probably damaging	Het
Unc79	T	C	12: 103,100,798 (GRCm39)	V1878A	probably damaging	Het
Wdr90	T	C	17: 26,064,437 (GRCm39)		probably benign	Het
Xpnpep1	T	C	19: 53,013,811 (GRCm39)	H42R	probably benign	Het
Zfp750	G	A	11: 121,403,778 (GRCm39)	H366Y	possibly damaging	Het
Zmynd11	A	G	13: 9,739,601 (GRCm39)	C462R	probably damaging	Het

Other mutations in Coq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0605:Coq4	UTSW	2	29,680,010 (GRCm39)	nonsense	probably null
R1184:Coq4	UTSW	2	29,678,346 (GRCm39)	unclassified	probably benign
R1917:Coq4	UTSW	2	29,679,938 (GRCm39)	missense	probably damaging	1.00
R4844:Coq4	UTSW	2	29,686,026 (GRCm39)	missense	possibly damaging	0.82
R5587:Coq4	UTSW	2	29,685,526 (GRCm39)	splice site	probably null
R5635:Coq4	UTSW	2	29,678,367 (GRCm39)	missense	possibly damaging	0.73
R5886:Coq4	UTSW	2	29,680,626 (GRCm39)	unclassified	probably benign
R6722:Coq4	UTSW	2	29,678,297 (GRCm39)	unclassified	probably benign
R7548:Coq4	UTSW	2	29,685,420 (GRCm39)	missense	possibly damaging	0.87
R8859:Coq4	UTSW	2	29,685,491 (GRCm39)	missense	probably damaging	1.00
R9253:Coq4	UTSW	2	29,685,433 (GRCm39)	missense	probably damaging	1.00
R9459:Coq4	UTSW	2	29,678,562 (GRCm39)	missense	probably damaging	0.99
R9760:Coq4	UTSW	2	29,678,482 (GRCm39)	missense	probably benign	0.02
X0064:Coq4	UTSW	2	29,679,920 (GRCm39)	missense	possibly damaging	0.95
Z1176:Coq4	UTSW	2	29,685,461 (GRCm39)	missense	probably null	1.00

Posted On

2016-08-02