Incidental Mutation 'IGL01501:Slc25a33'
| ID |
88931 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a33
|
| Ensembl Gene |
ENSMUSG00000028982 |
| Gene Name |
solute carrier family 25, member 33 |
| Synonyms |
Pnc1, 5730438N18Rik |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL01501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
149828493-149858734 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 149840615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105686]
|
| AlphaFold |
Q3TZX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105686
|
| SMART Domains |
Protein: ENSMUSP00000101311
Gene: ENSMUSG00000028982
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
123 |
3e-25 |
PFAM |
|
Pfam:Mito_carr
|
125 |
218 |
2.5e-22 |
PFAM |
|
Pfam:Mito_carr
|
229 |
319 |
6.2e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,404,369 (GRCm39) |
N212I |
probably damaging |
Het |
| Adgre4 |
T |
G |
17: 56,109,002 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
G |
A |
1: 34,627,398 (GRCm39) |
V546M |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,476,308 (GRCm39) |
S1504P |
possibly damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,042,987 (GRCm39) |
A851V |
probably benign |
Het |
| Ddhd2 |
A |
T |
8: 26,225,857 (GRCm39) |
M500K |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,146,370 (GRCm39) |
S191P |
probably benign |
Het |
| Gabrg3 |
T |
C |
7: 56,374,214 (GRCm39) |
T451A |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,858 (GRCm39) |
M35L |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,616,593 (GRCm39) |
I47V |
probably benign |
Het |
| Klk1b11 |
A |
T |
7: 43,649,258 (GRCm39) |
|
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Or4f14b |
A |
G |
2: 111,774,863 (GRCm39) |
*313Q |
probably null |
Het |
| Or5i1 |
T |
A |
2: 87,613,480 (GRCm39) |
W199R |
possibly damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,973,081 (GRCm39) |
N283I |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,178 (GRCm39) |
M120V |
probably damaging |
Het |
| Tbc1d8 |
G |
A |
1: 39,428,416 (GRCm39) |
R510C |
probably damaging |
Het |
| Thoc1 |
T |
C |
18: 9,986,321 (GRCm39) |
L351P |
possibly damaging |
Het |
| Tmco5b |
A |
G |
2: 113,121,726 (GRCm39) |
K180R |
probably null |
Het |
| Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,211 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc25a33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Slc25a33
|
APN |
4 |
149,829,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:Slc25a33
|
APN |
4 |
149,829,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Slc25a33
|
APN |
4 |
149,846,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Slc25a33
|
UTSW |
4 |
149,838,306 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5711:Slc25a33
|
UTSW |
4 |
149,846,914 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5853:Slc25a33
|
UTSW |
4 |
149,838,349 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6064:Slc25a33
|
UTSW |
4 |
149,836,921 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8094:Slc25a33
|
UTSW |
4 |
149,840,609 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9623:Slc25a33
|
UTSW |
4 |
149,833,767 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9663:Slc25a33
|
UTSW |
4 |
149,836,913 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation