Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01116:Coq8b'

51583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Coq8b

Ensembl Gene

ENSMUSG00000003762

Gene Name

coenzyme Q8B

Synonyms

0610012P18Rik, Adck4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01116

Quality Score

Status

Chromosome

Chromosomal Location

26932448-26957375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26939282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

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: V144A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: V144A

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: V144A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: V144A

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: V144A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: V144A

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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,911 (GRCm39)	M951L	probably benign	Het
Als2	T	C	1: 59,225,163 (GRCm39)		probably benign	Het
Arhgap26	T	C	18: 39,244,856 (GRCm39)	V167A	probably damaging	Het
Bbs1	A	G	19: 4,952,867 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,949,806 (GRCm39)		probably benign	Het
Cenpl	G	T	1: 160,910,857 (GRCm39)	S268I	possibly damaging	Het
Exo1	T	A	1: 175,728,963 (GRCm39)	C10S	possibly damaging	Het
Fam193b	A	T	13: 55,691,266 (GRCm39)	S203T	probably damaging	Het
Ggact	T	C	14: 123,129,167 (GRCm39)	N16S	probably damaging	Het
Gm3940	A	T	1: 52,129,882 (GRCm39)		probably benign	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Golm1	T	C	13: 59,797,470 (GRCm39)	K125R	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria1	A	G	11: 57,127,801 (GRCm39)	N337D	probably damaging	Het
Gripap1	G	A	X: 7,678,705 (GRCm39)	G464D	probably benign	Het
Grk1	A	G	8: 13,455,404 (GRCm39)	D96G	possibly damaging	Het
Hsf1	T	C	15: 76,382,403 (GRCm39)	V258A	probably benign	Het
Ighv7-4	A	G	12: 114,186,653 (GRCm39)	S40P	probably damaging	Het
Igkv4-50	G	A	6: 69,677,921 (GRCm39)	S61L	probably benign	Het
Igkv4-62	C	T	6: 69,377,035 (GRCm39)	G38E	probably damaging	Het
Ints1	T	C	5: 139,757,437 (GRCm39)	D358G	probably damaging	Het
Madd	A	G	2: 90,984,888 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,974,439 (GRCm39)	S580G	probably damaging	Het
Myef2	A	G	2: 124,940,402 (GRCm39)	M383T	probably damaging	Het
Myo3b	T	C	2: 70,119,730 (GRCm39)	L930P	probably damaging	Het
Ndufaf3	C	T	9: 108,444,068 (GRCm39)	R20Q	probably benign	Het
Npr2	T	C	4: 43,640,248 (GRCm39)	S328P	probably damaging	Het
Or1r1	A	T	11: 73,875,144 (GRCm39)	C97S	probably damaging	Het
Or4k15b	T	A	14: 50,272,507 (GRCm39)	M118L	probably benign	Het
Pdpr	T	C	8: 111,839,342 (GRCm39)	I155T	possibly damaging	Het
Phf11b	A	T	14: 59,560,631 (GRCm39)	I216K	probably benign	Het
Phkg1	T	C	5: 129,893,813 (GRCm39)		probably null	Het
Pik3r6	A	G	11: 68,422,276 (GRCm39)	Y225C	probably benign	Het
Plekhh2	A	T	17: 84,914,356 (GRCm39)	D1253V	possibly damaging	Het
Plppr3	T	C	10: 79,702,757 (GRCm39)	T155A	probably damaging	Het
Ppp6r2	T	C	15: 89,166,192 (GRCm39)	F732S	probably damaging	Het
Ryr1	A	G	7: 28,799,627 (GRCm39)		probably benign	Het
Slc16a8	T	G	15: 79,135,432 (GRCm39)	S459R	probably damaging	Het
Slc25a12	A	T	2: 71,123,696 (GRCm39)		probably benign	Het
Slc38a2	T	C	15: 96,591,066 (GRCm39)		probably benign	Het
Slit1	C	A	19: 41,594,824 (GRCm39)	W1182L	possibly damaging	Het
Snx2	C	T	18: 53,327,495 (GRCm39)		probably benign	Het
Sos1	A	T	17: 80,752,929 (GRCm39)	V335D	probably damaging	Het
St18	A	G	1: 6,872,856 (GRCm39)	D197G	probably damaging	Het
Ston2	G	T	12: 91,615,522 (GRCm39)	N295K	possibly damaging	Het
Stpg3	A	G	2: 25,103,191 (GRCm39)		probably benign	Het
Tmem63a	A	G	1: 180,799,654 (GRCm39)	I675V	probably damaging	Het
Vmn2r16	T	A	5: 109,488,294 (GRCm39)	L389Q	probably damaging	Het
Vps13d	C	A	4: 144,699,320 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,934 (GRCm39)	D3012E	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
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
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

Posted On

2013-06-21