Incidental Mutation 'IGL03258:Slc25a17'
| ID |
414740 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a17
|
| Ensembl Gene |
ENSMUSG00000022404 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17 |
| Synonyms |
PMP34, 34kDa |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81203122-81244966 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 81213243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023040]
[ENSMUST00000231140]
|
| AlphaFold |
O70579 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023040
|
| SMART Domains |
Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
6 |
97 |
1e-17 |
PFAM |
|
Pfam:Mito_carr
|
97 |
197 |
6.3e-24 |
PFAM |
|
Pfam:Mito_carr
|
199 |
297 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231140
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
probably damaging |
Het |
|
| Other mutations in Slc25a17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01710:Slc25a17
|
APN |
15 |
81,211,527 (GRCm39) |
nonsense |
probably null |
|
|
IGL02655:Slc25a17
|
APN |
15 |
81,207,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
Acquisitive
|
UTSW |
15 |
81,211,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
big_guy
|
UTSW |
15 |
81,244,975 (GRCm39) |
utr 5 prime |
probably benign |
|
|
grubbing
|
UTSW |
15 |
81,213,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Slc25a17
|
UTSW |
15 |
81,222,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Slc25a17
|
UTSW |
15 |
81,207,907 (GRCm39) |
splice site |
probably benign |
|
|
R1628:Slc25a17
|
UTSW |
15 |
81,244,925 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2179:Slc25a17
|
UTSW |
15 |
81,222,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3420:Slc25a17
|
UTSW |
15 |
81,244,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3421:Slc25a17
|
UTSW |
15 |
81,244,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3687:Slc25a17
|
UTSW |
15 |
81,211,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3688:Slc25a17
|
UTSW |
15 |
81,211,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4707:Slc25a17
|
UTSW |
15 |
81,211,527 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5617:Slc25a17
|
UTSW |
15 |
81,244,975 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5650:Slc25a17
|
UTSW |
15 |
81,213,377 (GRCm39) |
splice site |
probably null |
|
|
R5817:Slc25a17
|
UTSW |
15 |
81,211,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6207:Slc25a17
|
UTSW |
15 |
81,213,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6727:Slc25a17
|
UTSW |
15 |
81,222,154 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7331:Slc25a17
|
UTSW |
15 |
81,213,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Slc25a17
|
UTSW |
15 |
81,222,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Slc25a17
|
UTSW |
15 |
81,207,814 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9703:Slc25a17
|
UTSW |
15 |
81,224,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation