Mutagenetix > Incidental Mutations

Incidental Mutation 'R0050:Ucp1'

18493

Institutional Source

Beutler Lab

Gene Symbol

Ucp1

Ensembl Gene

ENSMUSG00000031710

Gene Name

uncoupling protein 1 (mitochondrial, proton carrier)

Synonyms

Slc25a7

MMRRC Submission

038344-MU

Accession Numbers

Ncbi RefSeq: NM_009463.3; MGI: 98894

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83290352-83298452 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83294228 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 191 (E191G)

Ref Sequence

ENSEMBL: ENSMUSP00000034146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034146]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034146
AA Change: E191G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034146
Gene: ENSMUSG00000031710
AA Change: E191G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	10	107	5.7e-20	PFAM
Pfam:Mito_carr	109	206	3.3e-20	PFAM
Pfam:Mito_carr	209	300	1.6e-18	PFAM

Meta Mutation Damage Score

0.4574

Coding Region Coverage

1x: 88.6%
3x: 85.4%
10x: 76.7%
20x: 62.7%

Validation Efficiency

90% (86/96)

MGI Phenotype

Strain: 1857471
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit impaired thermoregulation on some genetic backgrounds. Biochemical alterations in brown fat mitochondria are also observed. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(2) Spontaneous(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,069,910		probably benign	Het
Abca9	C	T	11: 110,145,591	C564Y	probably damaging	Het
Abhd14a	A	T	9: 106,440,883		probably benign	Het
Acnat2	G	A	4: 49,380,586	T264I	probably benign	Het
Adamts2	T	C	11: 50,775,395	V406A	probably damaging	Het
Adcy5	A	G	16: 35,304,303		probably benign	Het
Akr1c13	T	C	13: 4,194,670		probably benign	Het
Ankar	T	A	1: 72,656,164	E1093D	probably damaging	Het
Arhgef38	C	A	3: 133,132,196	D75Y	probably damaging	Het
Asns	T	C	6: 7,676,019	I484V	probably benign	Het
Astn1	T	C	1: 158,579,724		probably benign	Het
Atg4b	T	A	1: 93,787,718		probably benign	Het
Cadm2	A	G	16: 66,953,266		probably benign	Het
Ces2c	T	A	8: 104,848,199	M96K	probably benign	Het
Cpd	T	A	11: 76,792,859	T1025S	possibly damaging	Het
Daw1	T	C	1: 83,180,365	V45A	probably benign	Het
Dmrt3	C	A	19: 25,622,589	P266H	probably damaging	Het
Dnah10	A	G	5: 124,830,744	T4416A	probably benign	Het
Dock9	A	G	14: 121,607,225	V1124A	probably benign	Het
Ermp1	C	A	19: 29,628,784	A190S	probably damaging	Het
Gm10267	T	A	18: 44,156,453		probably benign	Het
Golga2	T	A	2: 32,292,127	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,615,389	M755L	probably damaging	Het
H1foo	G	T	6: 115,947,768	K78N	probably damaging	Het
Lama1	A	T	17: 67,782,056	D1574V	possibly damaging	Het
Lama3	T	A	18: 12,404,103	H268Q	probably damaging	Het
Lmntd1	T	C	6: 145,417,476	D107G	probably damaging	Het
Lrriq1	A	G	10: 103,068,931	V1614A	probably damaging	Het
Mmp12	A	G	9: 7,350,152		probably benign	Het
Mre11a	A	G	9: 14,830,973		probably benign	Het
Mtrf1l	T	C	10: 5,815,553		silent	Het
Oaz2	A	G	9: 65,687,802	E61G	probably damaging	Het
Parp3	A	T	9: 106,471,401	D473E	possibly damaging	Het
Pear1	G	T	3: 87,755,987	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,573,807	T3493S	possibly damaging	Het
Ppp3cb	A	G	14: 20,531,752	V65A	possibly damaging	Het
Rheb	A	T	5: 24,817,834		probably benign	Het
Ros1	G	A	10: 52,101,803	T1449M	probably damaging	Het
Scn4a	C	G	11: 106,320,856	R1445P	probably damaging	Het
Sema3d	T	A	5: 12,584,953	M662K	probably benign	Het
Skp2	A	G	15: 9,125,091	F134L	probably benign	Het
Slc6a12	T	C	6: 121,360,419		probably benign	Het
Slc8a3	T	C	12: 81,315,265	Y260C	probably damaging	Het
Spin1	T	A	13: 51,150,418		probably benign	Het
Stx2	A	G	5: 128,999,508		probably null	Het
Sycp2	A	T	2: 178,364,711	V863D	probably damaging	Het
Tgfb3	T	A	12: 86,069,884	I127F	possibly damaging	Het
Tgif1	T	G	17: 70,850,884	K2Q	probably damaging	Het
Trmt2a	A	T	16: 18,250,843	E234D	probably damaging	Het
Trps1	A	T	15: 50,765,525	S696T	probably benign	Het
Usp48	C	A	4: 137,613,803	D371E	probably damaging	Het
Usp54	A	T	14: 20,573,755		probably benign	Het

Other mutations in Ucp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4585001:Ucp1	UTSW	8	83293948	missense	probably damaging	1.00
R0055:Ucp1	UTSW	8	83290604	nonsense	probably null
R0055:Ucp1	UTSW	8	83290604	nonsense	probably null
R0505:Ucp1	UTSW	8	83295307	missense	possibly damaging	0.78
R0590:Ucp1	UTSW	8	83291603	splice site	probably benign
R0681:Ucp1	UTSW	8	83295307	missense	possibly damaging	0.78
R0731:Ucp1	UTSW	8	83297847	splice site	probably benign
R1606:Ucp1	UTSW	8	83295304	missense	probably damaging	1.00
R1722:Ucp1	UTSW	8	83290688	missense	probably benign	0.25
R1809:Ucp1	UTSW	8	83297867	missense	probably damaging	0.99
R1823:Ucp1	UTSW	8	83294032	missense	probably damaging	1.00
R3809:Ucp1	UTSW	8	83290641	missense	probably damaging	0.99
R4085:Ucp1	UTSW	8	83293951	missense	probably benign	0.43
R4673:Ucp1	UTSW	8	83295247	missense	probably damaging	1.00
R4998:Ucp1	UTSW	8	83297855	critical splice acceptor site	probably null
R5163:Ucp1	UTSW	8	83294203	missense	possibly damaging	0.95
R5421:Ucp1	UTSW	8	83290691	missense	probably benign	0.12
R5790:Ucp1	UTSW	8	83297891	missense	possibly damaging	0.54
R5994:Ucp1	UTSW	8	83293938	missense	possibly damaging	0.92
R6574:Ucp1	UTSW	8	83294089	critical splice donor site	probably null
R6732:Ucp1	UTSW	8	83291477	missense	probably benign	0.08
R7282:Ucp1	UTSW	8	83293902	missense	probably benign	0.03
R7343:Ucp1	UTSW	8	83295252	missense	probably damaging	0.99
R7878:Ucp1	UTSW	8	83297892	missense	probably benign	0.19
R8008:Ucp1	UTSW	8	83294011	missense	probably benign	0.32
R8365:Ucp1	UTSW	8	83293999	missense	probably damaging	0.97

Posted On

2013-03-25