Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Coq8b'

546124

Institutional Source

Beutler Lab

Gene Symbol

Coq8b

Ensembl Gene

ENSMUSG00000003762

Gene Name

coenzyme Q8B

Synonyms

0610012P18Rik, Adck4

MMRRC Submission

045129-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26932448-26957375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26939293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 148 (C148S)

Ref Sequence

ENSEMBL: ENSMUSP00000123309 (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: C148S

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: C148S

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: C148S

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: C148S

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

probably damaging
Transcript: ENSMUST00000128090
AA Change: C148S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: C148S

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: 99.7%
20x: 99.1%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,096,019 (GRCm39)	I804T	probably benign	Het
Abcb1b	A	T	5: 8,855,441 (GRCm39)	E25V	probably damaging	Het
Adamts9	G	T	6: 92,886,774 (GRCm39)	Y355*	probably null	Het
Akp3	A	G	1: 87,054,500 (GRCm39)	M303V	probably benign	Het
Ankrd35	A	T	3: 96,590,650 (GRCm39)	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,373,294 (GRCm39)		probably null	Het
Asxl1	T	C	2: 153,242,027 (GRCm39)	L859P	probably benign	Het
Atat1	A	G	17: 36,220,897 (GRCm39)	F11L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc7a	A	T	8: 129,608,075 (GRCm39)	H943Q	unknown	Het
Cep135	A	G	5: 76,764,695 (GRCm39)	T558A	probably benign	Het
Cfap99	A	G	5: 34,458,863 (GRCm39)	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,758,801 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col17a1	G	A	19: 47,640,622 (GRCm39)	P992L	probably damaging	Het
Col7a1	C	T	9: 108,792,331 (GRCm39)	Q1294*	probably null	Het
Csmd2	A	G	4: 128,171,021 (GRCm39)	N338S		Het
Cspg5	T	A	9: 110,075,959 (GRCm39)	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,628,341 (GRCm39)	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,089,310 (GRCm39)	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,539,547 (GRCm39)	I469V	probably benign	Het
Fam135b	T	C	15: 71,343,412 (GRCm39)	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,375,629 (GRCm39)	G453*	probably null	Het
Gclc	C	A	9: 77,695,498 (GRCm39)	A440D	probably damaging	Het
Glyat	T	C	19: 12,627,723 (GRCm39)	I106T	probably benign	Het
Gm12185	T	C	11: 48,799,071 (GRCm39)	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,930,494 (GRCm39)	H117R		Het
Ift70a2	A	T	2: 75,806,613 (GRCm39)	L633*	probably null	Het
Ildr2	A	G	1: 166,131,098 (GRCm39)	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,177 (GRCm39)		probably benign	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kif3a	G	T	11: 53,477,733 (GRCm39)	G401*	probably null	Het
Lactbl1	T	A	4: 136,360,286 (GRCm39)	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,136,023 (GRCm39)	D1649V	probably benign	Het
Lrrc37	C	T	11: 103,505,363 (GRCm39)	A26T	probably benign	Het
Map2k1	A	G	9: 64,101,105 (GRCm39)	V191A	probably benign	Het
Mdm4	A	T	1: 132,931,547 (GRCm39)	C165S	probably benign	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Muc20	A	T	16: 32,614,616 (GRCm39)	S254T	probably benign	Het
Myh1	A	G	11: 67,111,247 (GRCm39)	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,331,571 (GRCm39)	R275P	possibly damaging	Het
Notch2	T	A	3: 98,009,703 (GRCm39)	N543K	probably damaging	Het
Nup214	T	A	2: 31,924,168 (GRCm39)	S1566T	probably benign	Het
Nxnl1	T	G	8: 72,015,437 (GRCm39)	E157A	possibly damaging	Het
Obscn	A	G	11: 58,969,959 (GRCm39)	L61P	probably damaging	Het
Ogg1	A	T	6: 113,306,237 (GRCm39)	I145F	probably damaging	Het
Or10d5j	T	C	9: 39,867,641 (GRCm39)	T197A	probably benign	Het
Or2b2	A	G	13: 21,887,440 (GRCm39)	K90E	possibly damaging	Het
Or2f1	G	A	6: 42,721,337 (GRCm39)	R122H	probably benign	Het
Or51h5	T	C	7: 102,577,149 (GRCm39)	F105L	probably damaging	Het
Pclo	A	G	5: 14,763,461 (GRCm39)	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,000,676 (GRCm39)	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,288,737 (GRCm39)	K632E	probably damaging	Het
Plg	A	T	17: 12,610,723 (GRCm39)	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,015,698 (GRCm39)	N306K	probably damaging	Het
Pspn	A	G	17: 57,306,978 (GRCm39)	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,844 (GRCm39)	E484G	probably damaging	Het
Rbmxl1	G	T	8: 79,233,286 (GRCm39)	T19K	probably damaging	Het
Rora	G	A	9: 69,103,365 (GRCm39)	V31I	possibly damaging	Het
Skint5	C	A	4: 113,798,036 (GRCm39)	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,183,877 (GRCm39)	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,659,884 (GRCm39)	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484 (GRCm39)	V277L	probably benign	Het
Trhde	A	G	10: 114,354,082 (GRCm39)	M537T	probably damaging	Het
Tubb6	G	A	18: 67,534,981 (GRCm39)	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,886,873 (GRCm39)	L196Q	probably damaging	Het
Ubn1	A	T	16: 4,873,188 (GRCm39)	N70I	probably damaging	Het
Ubtf	A	T	11: 102,205,806 (GRCm39)	S40T	probably benign	Het
Virma	C	T	4: 11,519,249 (GRCm39)	A782V	possibly damaging	Het
Xdh	G	T	17: 74,250,868 (GRCm39)	T28K	probably damaging	Het
Xpo4	A	G	14: 57,834,508 (GRCm39)	S691P	probably benign	Het
Zfat	A	C	15: 68,052,301 (GRCm39)	F491V	probably damaging	Het
Zfp623	T	G	15: 75,820,154 (GRCm39)	V370G	probably 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
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
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'- TCTGTCAATCAAGGGTAAACACAG -3'
(R):5'- AAGATTCGCTGAAGCTGGG -3'

Sequencing Primer
(F):5'- CTGGACTACATAGAGCTCTGTCAG -3'
(R):5'- CTGATAAAGCTGTTGTCTTGGGAG -3'

Posted On

2019-05-13