Mutagenetix > Incidental Mutation

Incidental Mutation 'R8242:Coq5'

637601

Institutional Source

Beutler Lab

Gene Symbol

Coq5

Ensembl Gene

ENSMUSG00000041733

Gene Name

coenzyme Q5 methyltransferase

Synonyms

D5Ertd33e, 1810014G04Rik

MMRRC Submission

067647-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8242 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

115417752-115435029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115417806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 12 (V12A)

Ref Sequence

ENSEMBL: ENSMUSP00000048001 (fasta)

Gene Model

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

AlphaFold

Q9CXI0

Predicted Effect

probably benign
Transcript: ENSMUST00000040421
AA Change: V12A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733
AA Change: V12A

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,374,118 (GRCm39)	Y736H	possibly damaging	Het
Akr1c12	G	A	13: 4,322,269 (GRCm39)	R258*	probably null	Het
Ankfn1	C	G	11: 89,417,271 (GRCm39)		probably null	Het
Arfgef3	T	C	10: 18,505,824 (GRCm39)	K947E	probably benign	Het
Barx2	C	A	9: 31,824,227 (GRCm39)	R54L	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl11a	T	A	11: 24,113,208 (GRCm39)	F184I	probably benign	Het
Cfap251	T	A	5: 123,411,914 (GRCm39)	D515E	possibly damaging	Het
Cfap43	A	G	19: 47,885,808 (GRCm39)	L269P	probably damaging	Het
Col8a1	G	T	16: 57,452,721 (GRCm39)	P94Q	possibly damaging	Het
Csmd1	A	G	8: 16,760,670 (GRCm39)	V155A	probably benign	Het
Defb22	A	C	2: 152,328,007 (GRCm39)	C59W	probably damaging	Het
Dsg3	A	G	18: 20,669,980 (GRCm39)	T665A	possibly damaging	Het
Gm10542	A	G	18: 44,337,708 (GRCm39)	D62G	possibly damaging	Het
Gm45861	G	A	8: 28,038,821 (GRCm39)	S987N	unknown	Het
Gm5591	T	A	7: 38,219,746 (GRCm39)	T376S	probably benign	Het
Hps3	C	T	3: 20,068,290 (GRCm39)	R588H	possibly damaging	Het
Itpr1	A	T	6: 108,363,658 (GRCm39)	D760V	probably benign	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mroh2b	A	T	15: 4,938,522 (GRCm39)	R270S	probably benign	Het
Mroh4	G	T	15: 74,488,157 (GRCm39)	H350N	possibly damaging	Het
Nsd3	G	T	8: 26,196,567 (GRCm39)	E1183*	probably null	Het
Or13a19	T	A	7: 139,902,696 (GRCm39)	L28*	probably null	Het
Or4p7	A	G	2: 88,222,418 (GRCm39)	I276V	possibly damaging	Het
Or51f23b	T	C	7: 102,402,306 (GRCm39)	M277V	probably benign	Het
Or8k53	A	T	2: 86,177,426 (GRCm39)	M228K	probably damaging	Het
Pex5l	T	A	3: 33,060,184 (GRCm39)	T196S	probably benign	Het
Phlpp2	T	C	8: 110,666,834 (GRCm39)	V1121A	probably benign	Het
Rab3gap2	T	A	1: 184,954,050 (GRCm39)	S41T	probably benign	Het
Rad51c	A	T	11: 87,280,712 (GRCm39)	N293K	probably damaging	Het
Rgs3	C	A	4: 62,538,022 (GRCm39)	Q18K	probably benign	Het
Ripk2	C	T	4: 16,124,430 (GRCm39)	G426D	probably benign	Het
Rpl22l1	T	C	3: 28,860,914 (GRCm39)	V44A	possibly damaging	Het
Sntb1	C	T	15: 55,655,629 (GRCm39)	A196T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tdrd6	T	C	17: 43,939,821 (GRCm39)	E409G	probably damaging	Het
Timm50	A	T	7: 28,007,836 (GRCm39)	D105E	probably benign	Het
Tsga10	A	T	1: 37,846,182 (GRCm39)	S315T	probably benign	Het
Ttpa	G	A	4: 20,028,511 (GRCm39)	C256Y	probably damaging	Het
Vinac1	G	T	2: 128,881,313 (GRCm39)	C204*	probably null	Het
Vmn2r13	T	C	5: 109,322,872 (GRCm39)	Y139C	possibly damaging	Het
Washc5	A	G	15: 59,215,971 (GRCm39)	S803P	probably damaging	Het
Zfp985	A	C	4: 147,668,639 (GRCm39)	K502N	possibly 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
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
R5743:Coq5	UTSW	5	115,417,941 (GRCm39)	missense	probably benign	0.16
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'- ACACAGGAAAGGCTTTCAGG -3'
(R):5'- CCTCAGTGAGAAAAGGAACCCG -3'

Sequencing Primer
(F):5'- CACAGGAAAGGCTTTCAGGTTTCC -3'
(R):5'- AACAGGAGCCCGACAGGTC -3'

Posted On

2020-07-13