Mutagenetix > Incidental Mutation

Incidental Mutation 'R9499:Ucp1'

717432

Institutional Source

Beutler Lab

Gene Symbol

Ucp1

Ensembl Gene

ENSMUSG00000031710

Gene Name

uncoupling protein 1 (mitochondrial, proton carrier)

Synonyms

Slc25a7

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84016981-84025081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84024509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 278 (L278P)

Ref Sequence

ENSEMBL: ENSMUSP00000034146 (fasta)

Gene Model

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

AlphaFold

P12242

Predicted Effect

probably damaging
Transcript: ENSMUST00000034146
AA Change: L278P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034146
Gene: ENSMUSG00000031710
AA Change: L278P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,028,329 (GRCm38)	I20T	possibly damaging	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Arhgef17	T	C	7: 100,526,102 (GRCm39)	M851V	possibly damaging	Het
Arhgef5	A	T	6: 43,260,940 (GRCm39)	H1455L		Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Dnaaf11	T	C	15: 66,361,483 (GRCm39)	E6G	probably damaging	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm14401	C	T	2: 176,778,337 (GRCm39)	A141V	probably benign	Het
Gm14496	A	G	2: 181,638,179 (GRCm39)	K418E	probably benign	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Inpp5f	A	T	7: 128,295,437 (GRCm39)	I744F	possibly damaging	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mbl2	G	A	19: 30,216,664 (GRCm39)	A159T	probably damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mtor	C	T	4: 148,599,397 (GRCm39)	R1482C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Patl1	T	A	19: 11,897,728 (GRCm39)	M105K	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Plin1	T	C	7: 79,372,544 (GRCm39)	N343D	probably benign	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Rexo5	A	G	7: 119,404,480 (GRCm39)	E192G	probably damaging	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Slu7	G	A	11: 43,329,095 (GRCm39)	V106I	probably benign	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Sult2a8	A	C	7: 14,157,487 (GRCm39)	V116G	probably damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Vmn1r24	T	A	6: 57,933,150 (GRCm39)	I123F	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,584 (GRCm39)	N355Y	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp710	A	G	7: 79,731,621 (GRCm39)	E266G	probably damaging	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zscan4c	T	C	7: 10,740,853 (GRCm39)	V124A	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
R0050:Ucp1	UTSW	8	84,020,857 (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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGATTGTCTGCAGAGGAAAG -3'
(R):5'- AAGAGGTTTCAAAACTCTCTACTGG -3'

Sequencing Primer
(F):5'- CTGATTGTCTGCAGAGGAAAGATGAG -3'
(R):5'- AAGTCAACGGAGCTGTTCATTTG -3'

Posted On

2022-07-18