Incidental Mutation 'R3688:Slc25a17'
| ID |
269637 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3688 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81203122-81244966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81211485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 177
(F177S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023040]
[ENSMUST00000231140]
|
| AlphaFold |
O70579 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023040
AA Change: F177S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: F177S
| 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
|
| Meta Mutation Damage Score |
0.0723 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
| A1cf |
T |
A |
19: 31,888,569 (GRCm39) |
F100I |
probably damaging |
Het |
| Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
| Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
| Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
| Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
| Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
| Il17rd |
C |
A |
14: 26,761,105 (GRCm39) |
N15K |
probably null |
Het |
| Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
| Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,024,331 (GRCm39) |
|
probably null |
Het |
| Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
| Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
| Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pfkm |
T |
A |
15: 98,029,398 (GRCm39) |
N697K |
probably benign |
Het |
| Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
| Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
| Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
| Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,544 (GRCm39) |
T225S |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
| Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
probably benign |
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 |
|
IGL03258:Slc25a17
|
APN |
15 |
81,213,243 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACCGTCTGCATGGGATAGG -3'
(R):5'- AGTTTCTATCTGGGCCCATTTG -3'
Sequencing Primer
(F):5'- GCTATTGCGCCAATGATGAAC -3'
(R):5'- ATCTGGGCCCATTTGAACAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation