Incidental Mutation 'R8365:Ucp1'
| ID |
646145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ucp1
|
| Ensembl Gene |
ENSMUSG00000031710 |
| Gene Name |
uncoupling protein 1 (mitochondrial, proton carrier) |
| Synonyms |
Slc25a7 |
| MMRRC Submission |
067736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84016981-84025081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84020628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 146
(H146P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034146]
|
| AlphaFold |
P12242 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034146
AA Change: H146P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034146
Gene: ENSMUSG00000031710
AA Change: H146P
| 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: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
| Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
| Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,048 (GRCm39) |
H343L |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
| Dnal1 |
T |
A |
12: 84,178,163 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
| Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,307,727 (GRCm39) |
K204E |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 57,998,311 (GRCm39) |
I263N |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
| Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
| Prdm6 |
T |
C |
18: 53,685,137 (GRCm39) |
V392A |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
| Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,227 (GRCm39) |
C241S |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTTGTCCTCTGTGCACC -3'
(R):5'- TTCTCATTAGATTAGGGGTCGTCC -3'
Sequencing Primer
(F):5'- ATGTAAATGTATGTGATGCTTGGTAG -3'
(R):5'- GGTCGTCCCTGCAGAAAAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation