Mutagenetix > Incidental Mutation

Incidental Mutation 'R0690:Coq8b'

61340

Institutional Source

Beutler Lab

Gene Symbol

Coq8b

Ensembl Gene

ENSMUSG00000003762

Gene Name

coenzyme Q8B

Synonyms

0610012P18Rik, Adck4

MMRRC Submission

038875-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0690 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

26932448-26957375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26941674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 253 (E253G)

Ref Sequence

ENSEMBL: ENSMUSP00000123309 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003860
AA Change: E253G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: E253G

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

probably benign
Transcript: ENSMUST00000108378
AA Change: E253G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: E253G

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 benign
Transcript: ENSMUST00000128090
AA Change: E253G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: E253G

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: ENSMUST00000143372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206312

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,860,634 (GRCm39)		probably benign	Het
Abi3	T	C	11: 95,724,460 (GRCm39)		probably benign	Het
Adam2	T	C	14: 66,295,095 (GRCm39)	N250S	probably damaging	Het
Agbl4	T	A	4: 111,514,585 (GRCm39)	I532K	probably benign	Het
Agrn	T	G	4: 156,258,910 (GRCm39)	E905A	probably damaging	Het
Ahi1	A	G	10: 20,846,742 (GRCm39)		probably benign	Het
Aifm2	A	G	10: 61,562,231 (GRCm39)	N89S	probably benign	Het
Arsj	C	T	3: 126,231,833 (GRCm39)	T193I	probably damaging	Het
Ascc2	T	A	11: 4,632,933 (GRCm39)	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,528,019 (GRCm39)	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,490,003 (GRCm39)	V56I	possibly damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Celsr2	C	A	3: 108,322,293 (GRCm39)	R173M	probably damaging	Het
Cfap57	A	G	4: 118,426,924 (GRCm39)		probably benign	Het
Cfap69	G	A	5: 5,713,951 (GRCm39)	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,696,905 (GRCm39)		probably benign	Het
Cldn8	C	T	16: 88,359,527 (GRCm39)	V133M	probably damaging	Het
Col2a1	A	T	15: 97,878,073 (GRCm39)	V954E	unknown	Het
Col6a4	T	C	9: 105,905,386 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,586,685 (GRCm39)	M1779V	probably benign	Het
Ctse	T	C	1: 131,602,516 (GRCm39)		probably benign	Het
Cyp2c29	T	A	19: 39,298,170 (GRCm39)	N238K	probably benign	Het
Dcaf1	T	A	9: 106,723,848 (GRCm39)		probably benign	Het
Dcc	A	T	18: 71,942,275 (GRCm39)		probably benign	Het
Dkk1	A	G	19: 30,526,745 (GRCm39)	F12S	probably benign	Het
Dnah6	A	G	6: 73,106,457 (GRCm39)	V1760A	probably benign	Het
Fam117b	G	A	1: 59,997,512 (GRCm39)	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,505,709 (GRCm39)	M110K	probably damaging	Het
Frem3	T	A	8: 81,340,581 (GRCm39)	I958N	possibly damaging	Het
Gab1	T	A	8: 81,526,745 (GRCm39)	N118Y	probably damaging	Het
Gda	T	A	19: 21,387,251 (GRCm39)	I251L	probably benign	Het
Gli2	C	A	1: 118,772,190 (GRCm39)	R505L	probably damaging	Het
Gm5093	A	T	17: 46,750,664 (GRCm39)	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,024,949 (GRCm39)	S327L	probably benign	Het
Gpr156	T	A	16: 37,812,503 (GRCm39)	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071 (GRCm39)	Y790H	probably damaging	Het
Guf1	C	A	5: 69,723,695 (GRCm39)		probably null	Het
H6pd	T	C	4: 150,067,030 (GRCm39)	E452G	possibly damaging	Het
Herc1	T	A	9: 66,294,120 (GRCm39)	Y487*	probably null	Het
Ifi30	T	A	8: 71,217,593 (GRCm39)		probably benign	Het
Klf13	G	A	7: 63,587,819 (GRCm39)	A159V	possibly damaging	Het
Med11	T	A	11: 70,344,052 (GRCm39)	M124K	possibly damaging	Het
Myom3	A	G	4: 135,515,737 (GRCm39)		probably benign	Het
Nat2	A	T	8: 67,954,456 (GRCm39)	I189F	probably damaging	Het
Nhlrc4	C	G	17: 26,162,658 (GRCm39)	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,919,470 (GRCm39)	R173C	probably damaging	Het
Nox3	T	C	17: 3,745,839 (GRCm39)	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991 (GRCm39)	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,777,661 (GRCm39)	N409S	probably benign	Het
Nucb2	T	C	7: 116,135,086 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,700 (GRCm39)	F179L	possibly damaging	Het
Or5be3	A	G	2: 86,864,226 (GRCm39)	F113S	probably damaging	Het
Or8b12	T	C	9: 37,657,513 (GRCm39)	F28L	probably benign	Het
Orai2	A	T	5: 136,190,453 (GRCm39)	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,371,424 (GRCm39)	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,531,175 (GRCm39)	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,281,109 (GRCm39)	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,803,820 (GRCm39)	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,740,381 (GRCm39)	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,716,081 (GRCm39)		probably benign	Het
Qrfpr	G	A	3: 36,243,708 (GRCm39)	T131M	probably damaging	Het
Rab33b	A	G	3: 51,400,838 (GRCm39)	Y104C	probably damaging	Het
Rad54l	G	T	4: 115,956,947 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,359 (GRCm39)		probably null	Het
Slc1a5	A	T	7: 16,520,829 (GRCm39)	M233L	probably benign	Het
Slc47a2	C	T	11: 61,233,330 (GRCm39)	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,214,004 (GRCm39)	Y39F	probably benign	Het
Slfn5	T	C	11: 82,852,229 (GRCm39)	V785A	probably damaging	Het
Sp6	C	T	11: 96,912,370 (GRCm39)	P28S	possibly damaging	Het
Sptbn5	A	G	2: 119,893,156 (GRCm39)		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
St8sia1	A	G	6: 142,774,980 (GRCm39)	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,690,707 (GRCm39)		probably benign	Het
Syne1	A	G	10: 4,983,138 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,127,472 (GRCm39)	I371N	possibly damaging	Het
Tll1	C	T	8: 64,527,324 (GRCm39)	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,833 (GRCm39)	C114G	probably null	Het
Tmem25	C	T	9: 44,706,811 (GRCm39)		probably benign	Het
Tmem8b	T	C	4: 43,674,562 (GRCm39)	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,549,391 (GRCm39)	H18L	probably benign	Het
Trim63	A	G	4: 134,043,716 (GRCm39)	T60A	probably benign	Het
Trpv2	T	C	11: 62,475,502 (GRCm39)		probably null	Het
Ubr2	A	T	17: 47,249,579 (GRCm39)	I1591K	probably damaging	Het
Use1	A	T	8: 71,819,709 (GRCm39)		probably benign	Het
Zfp850	A	T	7: 27,684,642 (GRCm39)	C35S	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
R0067:Coq8b	UTSW	7	26,932,906 (GRCm39)	missense	possibly damaging	0.87
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'- CCAAGGCTTGCTAAAGGATGGGAC -3'
(R):5'- TCCACAAGCACACCTTGCTCTG -3'

Sequencing Primer
(F):5'- CTGAGGTGGCTGTGAAGATCC -3'
(R):5'- ctgtctgtctgtctgtctgtG -3'

Posted On

2013-07-30