Mutagenetix > Incidental Mutation

Incidental Mutation 'R8524:Coq5'

658712

Institutional Source

Beutler Lab

Gene Symbol

Coq5

Ensembl Gene

ENSMUSG00000041733

Gene Name

coenzyme Q5 methyltransferase

Synonyms

D5Ertd33e, 1810014G04Rik

MMRRC Submission

067949-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115417752-115435029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115422612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 172 (I172T)

Ref Sequence

ENSEMBL: ENSMUSP00000048001 (fasta)

Gene Model

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

AlphaFold

Q9CXI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040421
AA Change: I172T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733
AA Change: I172T

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

SMART Domains

Protein: ENSMUSP00000123308
Gene: ENSMUSG00000041733
AA Change: I77T

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc65	A	T	15: 98,606,990 (GRCm39)	T66S	probably benign	Het
Cers1	G	A	8: 70,783,898 (GRCm39)	G282D	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col25a1	C	A	3: 130,342,873 (GRCm39)	P350H	probably damaging	Het
Dand5	A	T	8: 85,549,056 (GRCm39)	L85*	probably null	Het
Dnah8	T	A	17: 30,934,472 (GRCm39)	W1486R	possibly damaging	Het
Dpp8	T	C	9: 64,950,989 (GRCm39)	Y142H	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gng7	T	A	10: 80,787,537 (GRCm39)	H42L	possibly damaging	Het
Gps2	T	C	11: 69,805,832 (GRCm39)	V93A	probably damaging	Het
Hspa9	T	C	18: 35,087,297 (GRCm39)	S3G	unknown	Het
Impg2	A	G	16: 56,038,757 (GRCm39)	N132D	probably benign	Het
Jak2	A	T	19: 29,273,105 (GRCm39)	N643I	probably damaging	Het
Kcng2	T	C	18: 80,338,896 (GRCm39)	D464G	probably benign	Het
Kdm4b	T	A	17: 56,706,384 (GRCm39)	C833S	probably damaging	Het
Ly86	G	A	13: 37,560,869 (GRCm39)	D77N	probably damaging	Het
Map7	G	A	10: 20,142,569 (GRCm39)	A330T	probably benign	Het
Mettl1	T	C	10: 126,877,908 (GRCm39)	S21P	probably damaging	Het
Mga	A	G	2: 119,771,997 (GRCm39)	Y1540C	probably damaging	Het
Mpp4	A	G	1: 59,183,840 (GRCm39)	L300P	probably damaging	Het
Mycbp2	A	G	14: 103,392,895 (GRCm39)	M3222T	probably benign	Het
Nat8f6	A	G	6: 85,785,541 (GRCm39)	Y203H	probably benign	Het
Nod1	C	T	6: 54,925,060 (GRCm39)	E84K	probably damaging	Het
Or10v9	A	G	19: 11,832,445 (GRCm39)	Y291H	probably damaging	Het
Or2b28	T	C	13: 21,531,248 (GRCm39)	V50A	probably benign	Het
Or8k28	T	C	2: 86,285,961 (GRCm39)	Y218C	probably damaging	Het
Padi2	A	G	4: 140,677,006 (GRCm39)	N598S	possibly damaging	Het
Pclo	C	T	5: 14,729,521 (GRCm39)		probably benign	Het
Pdik1l	T	G	4: 134,013,921 (GRCm39)	E12D	probably benign	Het
Plcg1	G	A	2: 160,603,387 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,797,638 (GRCm39)	H172R	possibly damaging	Het
Rnf41	C	G	10: 128,271,299 (GRCm39)	R70G	possibly damaging	Het
Rsbn1	A	T	3: 103,835,687 (GRCm39)	K203*	probably null	Het
Setbp1	T	C	18: 78,901,969 (GRCm39)	D566G	probably damaging	Het
Slc7a14	A	C	3: 31,278,282 (GRCm39)	V441G	possibly damaging	Het
Sorl1	T	A	9: 41,885,370 (GRCm39)	N2077I	probably damaging	Het
Spryd3	G	A	15: 102,026,583 (GRCm39)	R363*	probably null	Het
St6galnac1	G	T	11: 116,658,547 (GRCm39)	R306S	possibly damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Trim35	C	T	14: 66,544,493 (GRCm39)	R276C	probably damaging	Het
Trim55	A	T	3: 19,725,113 (GRCm39)	D210V	probably benign	Het
Tsg101	A	T	7: 46,542,115 (GRCm39)	D279E	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
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
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'- GCCTCTTATCACTCTTAGGGGC -3'
(R):5'- GCTCACACTTCCACAAGCTG -3'

Sequencing Primer
(F):5'- CACTCTTAGGGGCTTGGGAGAC -3'
(R):5'- CAAGCTGGAGCACTTGACAGTTC -3'

Posted On

2021-01-18