Incidental Mutation 'IGL00942:Slc25a27'
| ID |
29290 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a27
|
| Ensembl Gene |
ENSMUSG00000023912 |
| Gene Name |
solute carrier family 25, member 27 |
| Synonyms |
3632410G24Rik, D530043E16Rik, 9430092A03Rik, Ucp4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
43952782-43978105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43974980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 94
(I94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024705]
[ENSMUST00000170988]
|
| AlphaFold |
Q9D6D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024705
AA Change: I94V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000024705
Gene: ENSMUSG00000023912
AA Change: I94V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
15 |
119 |
1.4e-21 |
PFAM |
|
Pfam:Mito_carr
|
122 |
221 |
2e-23 |
PFAM |
|
Pfam:Mito_carr
|
224 |
319 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170988
|
| SMART Domains |
Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
32 |
464 |
1.9e-52 |
PFAM |
|
| Coding Region Coverage |
|
| 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 larger 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. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
| Other mutations in Slc25a27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Slc25a27
|
APN |
17 |
43,974,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02207:Slc25a27
|
APN |
17 |
43,972,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Slc25a27
|
APN |
17 |
43,974,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02795:Slc25a27
|
APN |
17 |
43,958,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Slc25a27
|
UTSW |
17 |
43,954,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1591:Slc25a27
|
UTSW |
17 |
43,964,315 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2165:Slc25a27
|
UTSW |
17 |
43,968,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2974:Slc25a27
|
UTSW |
17 |
43,964,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Slc25a27
|
UTSW |
17 |
43,977,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Slc25a27
|
UTSW |
17 |
43,960,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Slc25a27
|
UTSW |
17 |
43,968,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Slc25a27
|
UTSW |
17 |
43,975,083 (GRCm39) |
missense |
probably benign |
|
|
R7920:Slc25a27
|
UTSW |
17 |
43,960,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation