Mutagenetix > Incidental Mutation

Incidental Mutation 'R8300:Coq8b'

639203

Institutional Source

Beutler Lab

Gene Symbol

Coq8b

Ensembl Gene

ENSMUSG00000003762

Gene Name

coenzyme Q8B

Synonyms

0610012P18Rik, Adck4

MMRRC Submission

067788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26932448-26957375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26941671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 252 (V252A)

Ref Sequence

ENSEMBL: ENSMUSP00000003860 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003860
AA Change: V252A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: V252A

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: V252A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: V252A

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: V252A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: V252A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	G	9: 21,437,561 (GRCm39)	M1V	probably null	Het
Abca12	T	A	1: 71,353,123 (GRCm39)	N773I	possibly damaging	Het
Adh7	A	G	3: 137,929,825 (GRCm39)	E167G	probably damaging	Het
Ank2	T	A	3: 126,804,555 (GRCm39)	D622V		Het
Asf1b	T	A	8: 84,695,805 (GRCm39)	F149I	possibly damaging	Het
Bach1	T	C	16: 87,515,996 (GRCm39)	V179A	probably benign	Het
C1ra	C	T	6: 124,498,597 (GRCm39)	A430V	probably benign	Het
Cacna1c	T	A	6: 118,575,717 (GRCm39)	Q1944L		Het
Camkk1	T	C	11: 72,918,266 (GRCm39)	V158A	probably benign	Het
Ccdc152	T	C	15: 3,327,634 (GRCm39)	T48A	probably benign	Het
Cd180	A	T	13: 102,841,301 (GRCm39)	M116L	probably benign	Het
Clca3a2	C	T	3: 144,804,692 (GRCm39)	G12R	probably benign	Het
Cp	A	G	3: 20,011,385 (GRCm39)		probably benign	Het
Ctsj	A	T	13: 61,150,285 (GRCm39)	V238E	probably damaging	Het
Ctsj	C	T	13: 61,150,286 (GRCm39)	V238I	probably damaging	Het
Cxcr2	A	T	1: 74,198,333 (GRCm39)	M276L	probably benign	Het
Drd5	T	C	5: 38,477,672 (GRCm39)	S222P	probably damaging	Het
Egflam	T	C	15: 7,283,932 (GRCm39)	D269G	possibly damaging	Het
Fbn2	C	T	18: 58,342,687 (GRCm39)	R64Q	probably benign	Het
Fyb2	A	T	4: 104,857,689 (GRCm39)	K622M	probably damaging	Het
Gm10220	T	C	5: 26,322,818 (GRCm39)	E198G	probably damaging	Het
Gm1527	A	T	3: 28,980,744 (GRCm39)	N615Y	possibly damaging	Het
Gpatch3	A	G	4: 133,307,140 (GRCm39)	H308R	probably damaging	Het
Gsdmc4	A	G	15: 63,766,790 (GRCm39)	I261T	probably damaging	Het
Gsg1	T	G	6: 135,214,580 (GRCm39)	T310P	probably benign	Het
Hecw2	T	C	1: 53,926,775 (GRCm39)	S1075G	probably null	Het
Hyal6	A	G	6: 24,734,087 (GRCm39)	T7A	probably benign	Het
Ighv1-59	T	G	12: 115,298,987 (GRCm39)	Q22H	probably damaging	Het
Lyst	T	A	13: 13,838,643 (GRCm39)	M1853K	possibly damaging	Het
Maco1	A	G	4: 134,555,762 (GRCm39)	I237T	probably benign	Het
Mccc1	A	T	3: 36,017,753 (GRCm39)	M649K	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nek4	A	G	14: 30,692,352 (GRCm39)	D399G		Het
Obscn	T	C	11: 58,933,896 (GRCm39)	K5323E	probably benign	Het
Or6p1	T	A	1: 174,258,100 (GRCm39)	Y35*	probably null	Het
Paics	T	C	5: 77,109,253 (GRCm39)	V196A	probably damaging	Het
Pced1a	C	A	2: 130,266,157 (GRCm39)		probably benign	Het
Pierce1	A	T	2: 28,352,435 (GRCm39)	Y109*	probably null	Het
Pik3cb	A	G	9: 98,928,711 (GRCm39)	V848A	probably damaging	Het
Ppm1h	T	A	10: 122,618,118 (GRCm39)	N92K	probably damaging	Het
Ppp1r16b	T	A	2: 158,588,571 (GRCm39)	I152N	probably damaging	Het
Pramel7	A	G	2: 87,319,967 (GRCm39)	M442T	probably benign	Het
Prex2	A	T	1: 11,301,942 (GRCm39)	N1415I	possibly damaging	Het
Pum3	T	C	19: 27,399,773 (GRCm39)	K220R	probably benign	Het
Qrich2	G	T	11: 116,347,175 (GRCm39)	D1216E	probably benign	Het
Rbbp8	T	A	18: 11,838,833 (GRCm39)		silent	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp2	C	T	5: 128,874,835 (GRCm39)	R252Q	probably damaging	Het
Rnpep	T	C	1: 135,211,397 (GRCm39)	H117R	probably benign	Het
Serpinb10	A	G	1: 107,474,456 (GRCm39)	D206G	probably benign	Het
Sh3tc1	C	T	5: 35,854,792 (GRCm39)	V1302M	probably benign	Het
Slmap	T	C	14: 26,139,374 (GRCm39)	E780G	possibly damaging	Het
Snrpg	T	A	6: 86,353,558 (GRCm39)	V46E	probably damaging	Het
Spef1l	A	T	7: 139,557,091 (GRCm39)	I98N	probably damaging	Het
Sptbn5	T	A	2: 119,878,058 (GRCm39)	Q953L	noncoding transcript	Het
Stard9	C	T	2: 120,535,250 (GRCm39)	L3836F	possibly damaging	Het
Tcerg1	T	A	18: 42,683,137 (GRCm39)	M619K	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf9	C	T	4: 151,017,556 (GRCm39)	T137M	probably damaging	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trak1	G	T	9: 121,289,565 (GRCm39)	E626*	probably null	Het
Trio	G	T	15: 27,855,108 (GRCm39)	H750Q	possibly damaging	Het
U2af2	T	C	7: 5,070,414 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,182,347 (GRCm39)	I451V	probably benign	Het
Zfp930	A	T	8: 69,680,998 (GRCm39)	N230I	probably benign	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
R0067:Coq8b	UTSW	7	26,932,906 (GRCm39)	missense	possibly damaging	0.87
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
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'- GCTTGCTAAAGGATGGGACTG -3'
(R):5'- AGACTGCACACCTGTCTGTC -3'

Sequencing Primer
(F):5'- ACTGAGGTGGCTGTGAAGATCC -3'
(R):5'- TCTGTGTAGCTATGTCACATACAC -3'

Posted On

2020-07-28