Mutagenetix > Incidental Mutation

Incidental Mutation 'R9008:Uqcrb'

685453

Institutional Source

Beutler Lab

Gene Symbol

Uqcrb

Ensembl Gene

ENSMUSG00000021520

Gene Name

ubiquinol-cytochrome c reductase binding protein

Synonyms

QP-C, 2210415M14Rik

MMRRC Submission

068838-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67048681-67053442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67053363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 5 (S5P)

Ref Sequence

ENSEMBL: ENSMUSP00000021993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021993] [ENSMUST00000099412] [ENSMUST00000168767]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021993
AA Change: S5P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021993
Gene: ENSMUSG00000021520
AA Change: S5P

Domain	Start	End	E-Value	Type
Pfam:UCR_14kD	8	106	1.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099412

SMART Domains

Protein: ENSMUSP00000133648
Gene: ENSMUSG00000074826

Domain	Start	End	E-Value	Type
Pfam:RAM	9	89	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168767

SMART Domains

Protein: ENSMUSP00000133647
Gene: ENSMUSG00000074826

Domain	Start	End	E-Value	Type
Pfam:RAM	10	87	5.5e-24	PFAM
low complexity region	89	103	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173891

SMART Domains

Protein: ENSMUSP00000133330
Gene: ENSMUSG00000021519

Domain	Start	End	E-Value	Type
Pfam:mTERF	2	67	2.2e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,849,162 (GRCm39)	S536R	probably damaging	Het
Acacb	G	A	5: 114,386,815 (GRCm39)		silent	Het
Acsm1	T	C	7: 119,258,325 (GRCm39)	Y473H	probably benign	Het
Adam30	T	A	3: 98,070,034 (GRCm39)	C622*	probably null	Het
Adprs	C	T	4: 126,210,632 (GRCm39)	V283M	probably damaging	Het
AI606181	G	T	19: 41,582,032 (GRCm39)	R67S	unknown	Het
Btbd3	A	G	2: 138,125,453 (GRCm39)	I212M	probably benign	Het
C1s1	C	T	6: 124,509,499 (GRCm39)		probably null	Het
C7	T	A	15: 5,040,409 (GRCm39)	T539S		Het
Cd5l	A	C	3: 87,275,972 (GRCm39)	D314A	probably damaging	Het
Celsr3	T	A	9: 108,706,151 (GRCm39)	V878E	possibly damaging	Het
Cfap74	T	C	4: 155,503,121 (GRCm39)	S38P		Het
Chst2	C	T	9: 95,288,347 (GRCm39)		probably benign	Het
Deaf1	T	C	7: 140,904,078 (GRCm39)	T103A	probably damaging	Het
Deup1	T	A	9: 15,511,140 (GRCm39)	D213V	probably damaging	Het
Dhrs1	A	G	14: 55,978,638 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,701,501 (GRCm39)	V218A	possibly damaging	Het
Dock7	G	A	4: 98,833,448 (GRCm39)	Q1950*	probably null	Het
Ehf	G	A	2: 103,097,173 (GRCm39)	R283W		Het
Elovl3	A	T	19: 46,123,087 (GRCm39)	N221I	possibly damaging	Het
Gm11938	A	T	11: 99,493,966 (GRCm39)	V43E	probably damaging	Het
Hmcn1	T	C	1: 150,630,795 (GRCm39)		probably benign	Het
Hnf4g	A	G	3: 3,708,096 (GRCm39)	N115S	probably benign	Het
Hnrnpr	A	T	4: 136,056,737 (GRCm39)	N246Y	probably damaging	Het
Itpka	A	G	2: 119,579,894 (GRCm39)	E211G	probably damaging	Het
Krt78	TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	15: 101,855,211 (GRCm39)		probably benign	Het
Lcorl	A	T	5: 45,931,516 (GRCm39)		probably benign	Het
Lypd9	T	A	11: 58,338,209 (GRCm39)	E61V	probably benign	Het
Mgat5	T	C	1: 127,407,308 (GRCm39)	I658T	probably damaging	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mov10	A	G	3: 104,707,332 (GRCm39)	Y606H	probably benign	Het
Naa38	T	G	11: 69,287,148 (GRCm39)	V76G	probably damaging	Het
Nelfe	C	A	17: 35,073,334 (GRCm39)	P290T	possibly damaging	Het
Nfil3	A	T	13: 53,121,609 (GRCm39)	Y432N	probably damaging	Het
Nipbl	T	C	15: 8,356,608 (GRCm39)	K1593E	probably damaging	Het
Nlrc3	G	C	16: 3,776,807 (GRCm39)	L56V	possibly damaging	Het
Nlrp1a	A	T	11: 71,014,735 (GRCm39)	F172I	possibly damaging	Het
Ntn4	T	A	10: 93,569,466 (GRCm39)		probably benign	Het
Nudt2	G	A	4: 41,480,288 (GRCm39)	R57Q	probably damaging	Het
Obsl1	A	C	1: 75,482,027 (GRCm39)	L281W	probably benign	Het
Olfm4	A	T	14: 80,255,607 (GRCm39)	N250I	unknown	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or2m13	T	A	16: 19,226,173 (GRCm39)	I198F	probably benign	Het
Or2r2	T	C	6: 42,463,903 (GRCm39)	S75G	probably damaging	Het
Or5p50	A	G	7: 107,422,628 (GRCm39)	I16T	possibly damaging	Het
Pappa	A	T	4: 65,074,426 (GRCm39)	T327S	probably damaging	Het
Pcdhb4	T	G	18: 37,440,714 (GRCm39)	M8R	probably benign	Het
Phf21b	T	A	15: 84,671,563 (GRCm39)	I444F	probably damaging	Het
Pkd1l2	A	C	8: 117,769,037 (GRCm39)	V1205G	probably benign	Het
Plec	T	C	15: 76,060,232 (GRCm39)	Y3235C	probably damaging	Het
Pnmt	C	T	11: 98,278,832 (GRCm39)	T266I	possibly damaging	Het
Ppfia2	T	A	10: 106,655,220 (GRCm39)	D262E	probably benign	Het
Rabggta	A	T	14: 55,955,913 (GRCm39)	L448Q	probably damaging	Het
Rap1gds1	C	T	3: 138,661,177 (GRCm39)	R449H	probably benign	Het
Rictor	T	A	15: 6,801,610 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,027,556 (GRCm39)	F557S	probably damaging	Het
Ryr3	A	G	2: 112,465,748 (GRCm39)	C4809R	probably damaging	Het
Sacs	A	C	14: 61,441,992 (GRCm39)	D1346A	probably benign	Het
Slain1	T	A	14: 103,923,191 (GRCm39)	S261T	probably damaging	Het
Slc22a4	C	T	11: 53,881,664 (GRCm39)	W351*	probably null	Het
Smpd3	C	T	8: 106,984,058 (GRCm39)	G554S	probably benign	Het
Spag17	C	T	3: 99,934,942 (GRCm39)	S716F	possibly damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Spg11	C	T	2: 121,900,413 (GRCm39)	M1546I	probably benign	Het
Spmip11	T	G	15: 98,486,493 (GRCm39)	S88A	possibly damaging	Het
Stac3	C	T	10: 127,339,454 (GRCm39)	L117F	probably damaging	Het
Surf6	A	G	2: 26,782,536 (GRCm39)	W264R	probably damaging	Het
Taar7e	T	C	10: 23,913,810 (GRCm39)	V100A	probably damaging	Het
Tenm3	T	C	8: 48,795,688 (GRCm39)	H534R	probably damaging	Het
Tinagl1	C	A	4: 130,067,823 (GRCm39)	R57L	probably damaging	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Traf6	A	G	2: 101,527,333 (GRCm39)	Y361C	possibly damaging	Het
Ttn	A	T	2: 76,777,334 (GRCm39)		probably benign	Het
Ufl1	A	T	4: 25,254,778 (GRCm39)	Y559*	probably null	Het
Upk1b	A	T	16: 38,607,570 (GRCm39)	N52K	probably damaging	Het
Use1	A	G	8: 71,819,688 (GRCm39)	Y3C	unknown	Het
Usp9y	T	A	Y: 1,434,993 (GRCm39)	I279L	possibly damaging	Het
Vmn1r142	A	G	7: 21,862,796 (GRCm39)	L222P	probably damaging	Het
Vmn1r184	A	C	7: 25,967,177 (GRCm39)	N308H	probably benign	Het
Vmn2r14	C	A	5: 109,367,893 (GRCm39)	M366I	probably benign	Het
Vmn2r73	G	T	7: 85,521,904 (GRCm39)	S145Y	probably damaging	Het
Wdfy1	A	T	1: 79,692,697 (GRCm39)	W207R	probably damaging	Het
Zbtb38	A	T	9: 96,569,100 (GRCm39)	N661K	probably benign	Het
Zkscan3	G	T	13: 21,572,383 (GRCm39)	H416Q	possibly damaging	Het

Other mutations in Uqcrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Uqcrb	APN	13	67,049,459 (GRCm39)	unclassified	probably benign
IGL01943:Uqcrb	APN	13	67,050,827 (GRCm39)	splice site	probably null
IGL02323:Uqcrb	APN	13	67,050,874 (GRCm39)	unclassified	probably benign
R4656:Uqcrb	UTSW	13	67,049,603 (GRCm39)	missense	probably benign	0.10
R5464:Uqcrb	UTSW	13	67,048,889 (GRCm39)	missense	probably damaging	0.96
R6841:Uqcrb	UTSW	13	67,048,827 (GRCm39)	unclassified	probably benign
R8410:Uqcrb	UTSW	13	67,048,850 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTTCTAACCCTCAGGCAGG -3'
(R):5'- TTTCCCCATTGTGTCGCGAAG -3'

Sequencing Primer
(F):5'- CTCAGGCAGGCCCGACC -3'
(R):5'- ATCAGCCTAATGTGTGGAGTCCATTC -3'

Posted On

2021-10-11