Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Coq5'

445658

Institutional Source

Beutler Lab

Gene Symbol

Coq5

Ensembl Gene

ENSMUSG00000041733

Gene Name

coenzyme Q5 methyltransferase

Synonyms

D5Ertd33e, 1810014G04Rik

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115417752-115435029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115417941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 57 (E57A)

Ref Sequence

ENSEMBL: ENSMUSP00000048001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040421]

AlphaFold

Q9CXI0

Predicted Effect

probably benign
Transcript: ENSMUST00000040421
AA Change: E57A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733
AA Change: E57A

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	13	311	2.2e-8	PFAM
Pfam:Ubie_methyltran	59	326	1.4e-91	PFAM
Pfam:Methyltransf_31	104	305	3.4e-12	PFAM
Pfam:Methyltransf_25	110	240	1.3e-11	PFAM
Pfam:Methyltransf_11	150	244	4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129024

SMART Domains

Protein: ENSMUSP00000123308
Gene: ENSMUSG00000041733

Domain	Start	End	E-Value	Type
Pfam:Ubie_methyltran	1	135	3.2e-28	PFAM
Pfam:Methyltransf_25	16	134	3.4e-9	PFAM
Pfam:Methyltransf_11	56	135	7.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201429

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,536 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,391,629 (GRCm39)		probably null	Het
Arhgap20	T	A	9: 51,728,027 (GRCm39)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,775,560 (GRCm39)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,463,759 (GRCm39)	P906S	probably benign	Het
Caskin2	T	A	11: 115,693,115 (GRCm39)	N603I	possibly damaging	Het
Catspere2	G	T	1: 177,950,328 (GRCm39)		silent	Het
Ccdc159	A	T	9: 21,840,686 (GRCm39)	E84D	probably benign	Het
Ccl1	T	G	11: 82,067,712 (GRCm39)	S73R	possibly damaging	Het
Cdh20	G	T	1: 110,036,575 (GRCm39)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm39)		probably null	Het
Cstf1	T	A	2: 172,219,753 (GRCm39)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,948,815 (GRCm39)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,420,803 (GRCm39)	Q539L	probably benign	Het
Fbxo46	C	A	7: 18,870,420 (GRCm39)	D346E	probably damaging	Het
Frem3	A	T	8: 81,342,407 (GRCm39)	T1567S	probably damaging	Het
Glce	T	A	9: 61,977,822 (GRCm39)	T21S	probably damaging	Het
Gm19402	C	T	10: 77,526,516 (GRCm39)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm39)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,895,784 (GRCm39)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,664,021 (GRCm39)	T552K	possibly damaging	Het
Itga2	A	G	13: 115,021,042 (GRCm39)	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,905,723 (GRCm39)	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,297,221 (GRCm39)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,011,553 (GRCm39)	F4L	unknown	Het
Mcpt1	A	T	14: 56,256,072 (GRCm39)	H37L	probably benign	Het
Mpdz	T	C	4: 81,339,425 (GRCm39)	M1V	probably null	Het
Myom2	A	T	8: 15,130,914 (GRCm39)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,950,652 (GRCm39)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,042,736 (GRCm39)	Y30F	probably damaging	Het
Or52e7	A	G	7: 104,685,363 (GRCm39)		probably null	Het
Or8c13	C	A	9: 38,092,014 (GRCm39)	C35F	probably benign	Het
Or8h8	C	A	2: 86,753,549 (GRCm39)	G109V	probably benign	Het
Orc6	A	T	8: 86,029,585 (GRCm39)	Q43L	probably benign	Het
Otogl	G	A	10: 107,692,862 (GRCm39)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 94,124,160 (GRCm39)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,871,859 (GRCm39)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,333,511 (GRCm39)	S373T	probably damaging	Het
Prop1	T	C	11: 50,841,836 (GRCm39)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,411,314 (GRCm39)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,009,519 (GRCm39)	D102E	probably benign	Het
Rgs1	T	C	1: 144,121,110 (GRCm39)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,478,846 (GRCm39)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,966,520 (GRCm39)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,294,379 (GRCm39)	T429K	probably benign	Het
Slc35f1	T	G	10: 52,965,546 (GRCm39)	D320E	probably benign	Het
Smug1	C	A	15: 103,066,043 (GRCm39)		probably null	Het
Spata31f3	G	A	4: 42,873,087 (GRCm39)	T68I	probably damaging	Het
Ssrp1	T	A	2: 84,871,512 (GRCm39)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm39)	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,687,749 (GRCm39)	S196P	probably damaging	Het
Trim30d	A	T	7: 104,121,535 (GRCm39)	C176*	probably null	Het
Ush2a	A	G	1: 188,169,159 (GRCm39)	H1100R	probably benign	Het
Vezt	A	T	10: 93,832,957 (GRCm39)	F151L	probably benign	Het
Vps35l	A	G	7: 118,396,234 (GRCm39)	T538A	possibly damaging	Het
Zc3h3	G	T	15: 75,651,380 (GRCm39)	C638*	probably null	Het
Zfp128	C	T	7: 12,618,654 (GRCm39)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,125,855 (GRCm39)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,443,494 (GRCm39)	K324N	probably benign	Het

Other mutations in Coq5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02892:Coq5	APN	5	115,432,876 (GRCm39)	intron	probably benign
R1474:Coq5	UTSW	5	115,433,842 (GRCm39)	splice site	probably benign
R1672:Coq5	UTSW	5	115,417,975 (GRCm39)	critical splice donor site	probably null
R1966:Coq5	UTSW	5	115,432,890 (GRCm39)	splice site	probably null
R3815:Coq5	UTSW	5	115,433,957 (GRCm39)	missense	probably damaging	1.00
R3834:Coq5	UTSW	5	115,422,635 (GRCm39)	missense	probably damaging	1.00
R5182:Coq5	UTSW	5	115,417,815 (GRCm39)	missense	probably benign	0.00
R5190:Coq5	UTSW	5	115,433,839 (GRCm39)	splice site	probably null
R5605:Coq5	UTSW	5	115,421,776 (GRCm39)	critical splice donor site	probably null
R8242:Coq5	UTSW	5	115,417,806 (GRCm39)	missense	probably benign	0.02
R8524:Coq5	UTSW	5	115,422,612 (GRCm39)	missense	probably damaging	0.96
R9155:Coq5	UTSW	5	115,433,839 (GRCm39)	splice site	probably null
R9541:Coq5	UTSW	5	115,417,901 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCACTAATGTGTCTCCTGTCGG -3'
(R):5'- AGCAAATGAGTCCCCGAAAG -3'

Sequencing Primer
(F):5'- TGACGCAACCCGACGTTC -3'
(R):5'- CGAAAGGGAAGCTGGGTCTG -3'

Posted On

2016-11-21