Mutagenetix > Incidental Mutation

Incidental Mutation 'R5190:Coq5'

398041

Institutional Source

Beutler Lab

Gene Symbol

Coq5

Ensembl Gene

ENSMUSG00000041733

Gene Name

coenzyme Q5 methyltransferase

Synonyms

D5Ertd33e, 1810014G04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115417752-115435029 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 115433839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009157] [ENSMUST00000040421] [ENSMUST00000040421] [ENSMUST00000112090]

AlphaFold

Q9CXI0

Predicted Effect

probably benign
Transcript: ENSMUST00000009157

SMART Domains

Protein: ENSMUSP00000009157
Gene: ENSMUSG00000009013

Domain	Start	End	E-Value	Type
Dynein_light	1	88	1.67e-59	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000040421

SMART Domains

Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733

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 null
Transcript: ENSMUST00000040421

SMART Domains

Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733

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: ENSMUST00000112090

SMART Domains

Protein: ENSMUSP00000107720
Gene: ENSMUSG00000009013

Domain	Start	End	E-Value	Type
Pfam:Dynein_light	1	89	5.4e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127552

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: ENSMUST00000202980

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca7	T	C	10: 79,835,427 (GRCm39)		probably null	Het
Abca8a	C	T	11: 109,980,735 (GRCm39)		probably null	Het
Ablim3	A	G	18: 61,952,982 (GRCm39)	Y361H	probably benign	Het
Acan	C	T	7: 78,748,289 (GRCm39)	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652 (GRCm39)	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,955,975 (GRCm39)	C58F	probably damaging	Het
Cand2	G	T	6: 115,766,474 (GRCm39)	A360S	probably damaging	Het
Cdh2	A	G	18: 16,783,372 (GRCm39)	V62A	possibly damaging	Het
Cep44	C	T	8: 56,985,831 (GRCm39)	V354I	probably benign	Het
Col3a1	G	A	1: 45,368,244 (GRCm39)	R309Q	unknown	Het
Col3a1	G	A	1: 45,383,967 (GRCm39)		probably benign	Het
Crtac1	A	G	19: 42,322,347 (GRCm39)	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,051,724 (GRCm39)	V1706A	probably benign	Het
Dop1a	A	G	9: 86,369,357 (GRCm39)	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,635 (GRCm39)	D214G	probably benign	Het
Fam216a	T	A	5: 122,505,584 (GRCm39)		probably null	Het
Fdxacb1	A	C	9: 50,683,387 (GRCm39)	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
Helz2	A	T	2: 180,872,550 (GRCm39)		probably null	Het
Itgam	T	C	7: 127,715,489 (GRCm39)		probably null	Het
Kcnh1	A	G	1: 192,187,836 (GRCm39)	S766G	probably benign	Het
Klra1	C	A	6: 130,352,241 (GRCm39)	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,808 (GRCm39)	T25S	probably benign	Het
Mapk6	T	C	9: 75,295,626 (GRCm39)	Y624C	probably damaging	Het
Or10ag2	A	G	2: 87,249,187 (GRCm39)	Y263C	probably damaging	Het
Or1ad8	T	G	11: 50,898,381 (GRCm39)	I194S	probably damaging	Het
Or2y1g	T	C	11: 49,171,209 (GRCm39)	V78A	probably damaging	Het
Or52e4	C	T	7: 104,705,660 (GRCm39)	S69L	probably damaging	Het
Or9m2	T	A	2: 87,821,107 (GRCm39)	Y217*	probably null	Het
P3h2	A	G	16: 25,803,699 (GRCm39)	S356P	possibly damaging	Het
Pde12	C	T	14: 26,387,532 (GRCm39)		probably null	Het
Rln3	T	G	8: 84,769,866 (GRCm39)	K94N	probably damaging	Het
Skint5	T	C	4: 113,620,711 (GRCm39)	I668V	unknown	Het
Slitrk5	C	A	14: 111,916,852 (GRCm39)	Q159K	probably damaging	Het
Trim3	G	T	7: 105,268,716 (GRCm39)	N79K	probably damaging	Het
Tyw1	T	A	5: 130,296,756 (GRCm39)	C101*	probably null	Het
Ulk2	T	C	11: 61,672,537 (GRCm39)	T934A	probably benign	Het
Unc5b	T	C	10: 60,608,072 (GRCm39)	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,462,556 (GRCm39)	R9*	probably null	Het
Zfc3h1	T	G	10: 115,254,597 (GRCm39)	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,311,332 (GRCm39)	V9A	probably benign	Het
Zfp423	T	A	8: 88,509,091 (GRCm39)	S397C	probably damaging	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
R5605:Coq5	UTSW	5	115,421,776 (GRCm39)	critical splice donor site	probably null
R5743:Coq5	UTSW	5	115,417,941 (GRCm39)	missense	probably benign	0.16
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'- AGGAAATAAGCCCAGATCCTGC -3'
(R):5'- CAGTAGAAATGACTGGCCTGTG -3'

Sequencing Primer
(F):5'- TAAGCCCAGATCCTGCTTTAAATC -3'
(R):5'- TGACTGGCCTGTGTGCCAC -3'

Posted On

2016-07-06