Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

84016981-84025081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84020857 bp (GRCm39)

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]

AlphaFold

P12242

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

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 (GRCm39)		probably benign	Het
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Abhd14a	A	T	9: 106,318,082 (GRCm39)		probably benign	Het
Acnat2	G	A	4: 49,380,586 (GRCm39)	T264I	probably benign	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Adcy5	A	G	16: 35,124,673 (GRCm39)		probably benign	Het
Akr1c13	T	C	13: 4,244,669 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Asns	T	C	6: 7,676,019 (GRCm39)	I484V	probably benign	Het
Astn1	T	C	1: 158,407,294 (GRCm39)		probably benign	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Cpd	T	A	11: 76,683,685 (GRCm39)	T1025S	possibly damaging	Het
Daw1	T	C	1: 83,158,086 (GRCm39)	V45A	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dnah10	A	G	5: 124,907,808 (GRCm39)	T4416A	probably benign	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama1	A	T	17: 68,089,051 (GRCm39)	D1574V	possibly damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lmntd1	T	C	6: 145,363,202 (GRCm39)	D107G	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Mmp12	A	G	9: 7,350,152 (GRCm39)		probably benign	Het
Mre11a	A	G	9: 14,742,269 (GRCm39)		probably benign	Het
Mtrf1l	T	C	10: 5,765,553 (GRCm39)		silent	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Parp3	A	T	9: 106,348,600 (GRCm39)	D473E	possibly damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Scn4a	C	G	11: 106,211,682 (GRCm39)	R1445P	probably damaging	Het
Sema3d	T	A	5: 12,634,920 (GRCm39)	M662K	probably benign	Het
Skp2	A	G	15: 9,125,178 (GRCm39)	F134L	probably benign	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Slc8a3	T	C	12: 81,362,039 (GRCm39)	Y260C	probably damaging	Het
Spin1	T	A	13: 51,304,454 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,006,504 (GRCm39)	V863D	probably damaging	Het
Tgfb3	T	A	12: 86,116,658 (GRCm39)	I127F	possibly damaging	Het
Tgif1	T	G	17: 71,157,879 (GRCm39)	K2Q	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	Het
Trps1	A	T	15: 50,628,921 (GRCm39)	S696T	probably benign	Het
Usp48	C	A	4: 137,341,114 (GRCm39)	D371E	probably damaging	Het
Usp54	A	T	14: 20,623,823 (GRCm39)		probably benign	Het

Other mutations in Ucp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4585001:Ucp1	UTSW	8	84,020,577 (GRCm39)	missense	probably damaging	1.00
R0055:Ucp1	UTSW	8	84,017,233 (GRCm39)	nonsense	probably null
R0055:Ucp1	UTSW	8	84,017,233 (GRCm39)	nonsense	probably null
R0505:Ucp1	UTSW	8	84,021,936 (GRCm39)	missense	possibly damaging	0.78
R0590:Ucp1	UTSW	8	84,018,232 (GRCm39)	splice site	probably benign
R0681:Ucp1	UTSW	8	84,021,936 (GRCm39)	missense	possibly damaging	0.78
R0731:Ucp1	UTSW	8	84,024,476 (GRCm39)	splice site	probably benign
R1606:Ucp1	UTSW	8	84,021,933 (GRCm39)	missense	probably damaging	1.00
R1722:Ucp1	UTSW	8	84,017,317 (GRCm39)	missense	probably benign	0.25
R1809:Ucp1	UTSW	8	84,024,496 (GRCm39)	missense	probably damaging	0.99
R1823:Ucp1	UTSW	8	84,020,661 (GRCm39)	missense	probably damaging	1.00
R3809:Ucp1	UTSW	8	84,017,270 (GRCm39)	missense	probably damaging	0.99
R4085:Ucp1	UTSW	8	84,020,580 (GRCm39)	missense	probably benign	0.43
R4673:Ucp1	UTSW	8	84,021,876 (GRCm39)	missense	probably damaging	1.00
R4998:Ucp1	UTSW	8	84,024,484 (GRCm39)	critical splice acceptor site	probably null
R5163:Ucp1	UTSW	8	84,020,832 (GRCm39)	missense	possibly damaging	0.95
R5421:Ucp1	UTSW	8	84,017,320 (GRCm39)	missense	probably benign	0.12
R5790:Ucp1	UTSW	8	84,024,520 (GRCm39)	missense	possibly damaging	0.54
R5994:Ucp1	UTSW	8	84,020,567 (GRCm39)	missense	possibly damaging	0.92
R6574:Ucp1	UTSW	8	84,020,718 (GRCm39)	critical splice donor site	probably null
R6732:Ucp1	UTSW	8	84,018,106 (GRCm39)	missense	probably benign	0.08
R7282:Ucp1	UTSW	8	84,020,531 (GRCm39)	missense	probably benign	0.03
R7343:Ucp1	UTSW	8	84,021,881 (GRCm39)	missense	probably damaging	0.99
R7878:Ucp1	UTSW	8	84,024,521 (GRCm39)	missense	probably benign	0.19
R8008:Ucp1	UTSW	8	84,020,640 (GRCm39)	missense	probably benign	0.32
R8365:Ucp1	UTSW	8	84,020,628 (GRCm39)	missense	probably damaging	0.97
R8899:Ucp1	UTSW	8	84,017,216 (GRCm39)	missense	probably benign	0.35
R9186:Ucp1	UTSW	8	84,017,272 (GRCm39)	nonsense	probably null
R9499:Ucp1	UTSW	8	84,024,509 (GRCm39)	missense	probably damaging	1.00
R9551:Ucp1	UTSW	8	84,024,509 (GRCm39)	missense	probably damaging	1.00
R9552:Ucp1	UTSW	8	84,024,509 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25