Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Coq8b'

158515

Institutional Source

Beutler Lab

Gene Symbol

Coq8b

Ensembl Gene

ENSMUSG00000003762

Gene Name

coenzyme Q8B

Synonyms

0610012P18Rik, Adck4

MMRRC Submission

038358-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0067 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26932448-26957375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26932906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 5 (L5P)

Ref Sequence

ENSEMBL: ENSMUSP00000123309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003850] [ENSMUST00000003860] [ENSMUST00000108378] [ENSMUST00000128090]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003850

SMART Domains

Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752

Domain	Start	End	E-Value	Type
low complexity region	28	59	N/A	INTRINSIC
low complexity region	346	363	N/A	INTRINSIC
Pfam:IPK	462	673	3.7e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003860
AA Change: L5P

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: L5P

Domain	Start	End	E-Value	Type
low complexity region	93	109	N/A	INTRINSIC
Pfam:ABC1	198	314	4.9e-34	PFAM
low complexity region	348	364	N/A	INTRINSIC
low complexity region	474	483	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108378
AA Change: L5P

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: L5P

Domain	Start	End	E-Value	Type
low complexity region	93	109	N/A	INTRINSIC
Pfam:ABC1	198	314	4.4e-34	PFAM
low complexity region	348	364	N/A	INTRINSIC
low complexity region	474	483	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128090
AA Change: L5P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: L5P

Domain	Start	End	E-Value	Type
low complexity region	93	109	N/A	INTRINSIC
Pfam:ABC1	198	304	3.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206441

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,610,995 (GRCm39)	V248M	possibly damaging	Het
Adamts9	T	A	6: 92,867,148 (GRCm39)	K79N	probably damaging	Het
AW209491	A	T	13: 14,812,328 (GRCm39)	I394F	probably benign	Het
Cacna1d	A	T	14: 29,796,967 (GRCm39)		probably benign	Het
Cacna1i	A	T	15: 80,265,373 (GRCm39)	I1542F	probably damaging	Het
Cep97	A	T	16: 55,735,924 (GRCm39)	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,689,209 (GRCm39)		probably benign	Het
Dennd1c	T	C	17: 57,382,465 (GRCm39)	Q67R	probably damaging	Het
Dysf	T	C	6: 84,040,313 (GRCm39)	V119A	possibly damaging	Het
Eml1	A	G	12: 108,429,786 (GRCm39)	D23G	possibly damaging	Het
Eva1c	A	T	16: 90,663,305 (GRCm39)	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,610,504 (GRCm39)	K95R	probably benign	Het
Glo1	A	T	17: 30,813,245 (GRCm39)		probably null	Het
Gm11360	T	A	13: 28,140,214 (GRCm39)	M26K	probably benign	Het
Gps2	C	T	11: 69,805,607 (GRCm39)	Q42*	probably null	Het
Gypa	A	G	8: 81,229,710 (GRCm39)	H102R	possibly damaging	Het
Hdac4	G	A	1: 91,957,706 (GRCm39)	H103Y	probably damaging	Het
Hivep1	T	A	13: 42,312,132 (GRCm39)	D1457E	probably benign	Het
Hunk	A	G	16: 90,244,200 (GRCm39)	D110G	probably damaging	Het
L3mbtl1	A	G	2: 162,790,748 (GRCm39)	K225E	probably damaging	Het
Limch1	A	G	5: 67,131,965 (GRCm39)	S143G	probably damaging	Het
Macf1	T	C	4: 123,369,041 (GRCm39)	K342E	possibly damaging	Het
Mc5r	T	A	18: 68,472,637 (GRCm39)	M332K	probably damaging	Het
Memo1	A	G	17: 74,532,453 (GRCm39)	V185A	probably damaging	Het
Mtrex	C	T	13: 113,023,396 (GRCm39)	V727I	probably benign	Het
Myf6	A	T	10: 107,329,340 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,272,551 (GRCm39)	T1418I	probably benign	Het
Pbk	G	A	14: 66,052,675 (GRCm39)	V173I	possibly damaging	Het
Plekha5	C	T	6: 140,470,629 (GRCm39)	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,514,290 (GRCm39)	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,125,301 (GRCm39)	R246S	probably damaging	Het
Rflnb	A	T	11: 75,912,987 (GRCm39)	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,778,796 (GRCm39)		probably null	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rtn2	T	A	7: 19,028,396 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,111,364 (GRCm39)	T165A	probably damaging	Het
Scamp1	T	C	13: 94,340,658 (GRCm39)	Y237C	probably damaging	Het
Skint10	A	T	4: 112,568,753 (GRCm39)	F321L	probably benign	Het
Slc36a2	A	G	11: 55,053,466 (GRCm39)		probably benign	Het
Slc8a1	A	G	17: 81,745,188 (GRCm39)	V672A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Spats2	C	A	15: 99,110,168 (GRCm39)	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,839,352 (GRCm39)	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,960,872 (GRCm39)	T241A	probably damaging	Het
Ticrr	A	T	7: 79,327,158 (GRCm39)	D622V	probably damaging	Het
Tie1	A	G	4: 118,333,477 (GRCm39)		probably benign	Het
Trak1	G	C	9: 121,301,973 (GRCm39)	V910L	probably damaging	Het
Trmt1l	T	C	1: 151,324,131 (GRCm39)	V326A	probably benign	Het
Tshr	A	G	12: 91,472,057 (GRCm39)	T136A	probably damaging	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Unc13a	A	C	8: 72,087,302 (GRCm39)	F1482V	probably damaging	Het
Unc79	A	G	12: 103,025,777 (GRCm39)	E388G	probably damaging	Het
Ush2a	A	T	1: 188,697,043 (GRCm39)	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wdfy4	G	A	14: 32,884,708 (GRCm39)	R65C	probably null	Het
Zcchc9	T	C	13: 91,945,368 (GRCm39)	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,259,379 (GRCm39)	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,134,040 (GRCm39)	D366G	possibly damaging	Het

Other mutations in Coq8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Coq8b	APN	7	26,956,902 (GRCm39)	missense	probably benign
IGL01116:Coq8b	APN	7	26,939,282 (GRCm39)	missense	possibly damaging	0.82
IGL01123:Coq8b	APN	7	26,939,509 (GRCm39)	missense	probably damaging	1.00
IGL02949:Coq8b	APN	7	26,956,038 (GRCm39)	missense	possibly damaging	0.70
R0690:Coq8b	UTSW	7	26,941,674 (GRCm39)	missense	probably benign	0.15
R1307:Coq8b	UTSW	7	26,950,016 (GRCm39)	missense	probably damaging	1.00
R1470:Coq8b	UTSW	7	26,951,734 (GRCm39)	missense	probably benign	0.10
R1470:Coq8b	UTSW	7	26,951,734 (GRCm39)	missense	probably benign	0.10
R1551:Coq8b	UTSW	7	26,956,907 (GRCm39)	missense	probably damaging	1.00
R1682:Coq8b	UTSW	7	26,939,549 (GRCm39)	missense	probably benign	0.00
R1895:Coq8b	UTSW	7	26,939,299 (GRCm39)	missense	possibly damaging	0.91
R1945:Coq8b	UTSW	7	26,933,406 (GRCm39)	small insertion	probably benign
R1945:Coq8b	UTSW	7	26,933,405 (GRCm39)	small insertion	probably benign
R1946:Coq8b	UTSW	7	26,939,299 (GRCm39)	missense	possibly damaging	0.91
R2069:Coq8b	UTSW	7	26,956,802 (GRCm39)	missense	probably damaging	1.00
R3758:Coq8b	UTSW	7	26,941,652 (GRCm39)	nonsense	probably null
R4545:Coq8b	UTSW	7	26,932,930 (GRCm39)	missense	probably benign	0.45
R4838:Coq8b	UTSW	7	26,950,016 (GRCm39)	missense	probably damaging	1.00
R5181:Coq8b	UTSW	7	26,951,747 (GRCm39)	missense	possibly damaging	0.65
R5345:Coq8b	UTSW	7	26,949,773 (GRCm39)	missense	probably benign
R5806:Coq8b	UTSW	7	26,950,050 (GRCm39)	nonsense	probably null
R5943:Coq8b	UTSW	7	26,933,428 (GRCm39)	missense	probably damaging	1.00
R6005:Coq8b	UTSW	7	26,956,750 (GRCm39)	nonsense	probably null
R7028:Coq8b	UTSW	7	26,939,293 (GRCm39)	missense	probably damaging	1.00
R7709:Coq8b	UTSW	7	26,949,962 (GRCm39)	missense	probably damaging	0.98
R8300:Coq8b	UTSW	7	26,941,671 (GRCm39)	missense	possibly damaging	0.72
R9039:Coq8b	UTSW	7	26,950,011 (GRCm39)	missense	probably benign	0.19
R9310:Coq8b	UTSW	7	26,941,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAGCAACGGGAGAGAACCTTAGC -3'
(R):5'- GATGAACACTTTGGGCCAAGCAAC -3'

Sequencing Primer
(F):5'- CTTAGCAACAGCGAGGAGTTTTG -3'
(R):5'- TTTGGGCCAAGCAACTCCTAC -3'

Posted On

2014-03-10