Incidental Mutation 'R3421:Slc25a17'
ID |
267062 |
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 |
MMRRC Submission |
040639-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.289)
|
Stock # |
R3421 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81203122-81244966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81244901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 11
(V11I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155823
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023039]
[ENSMUST00000023040]
[ENSMUST00000172107]
[ENSMUST00000230309]
[ENSMUST00000231140]
|
AlphaFold |
O70579 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023039
|
SMART Domains |
Protein: ENSMUSP00000023039 Gene: ENSMUSG00000022403
Domain | Start | End | E-Value | Type |
PDB:4J8C|B
|
1 |
44 |
6e-25 |
PDB |
low complexity region
|
52 |
72 |
N/A |
INTRINSIC |
TPR
|
104 |
137 |
1.2e1 |
SMART |
TPR
|
138 |
171 |
6.95e-4 |
SMART |
TPR
|
172 |
205 |
4.8e1 |
SMART |
coiled coil region
|
225 |
264 |
N/A |
INTRINSIC |
low complexity region
|
271 |
305 |
N/A |
INTRINSIC |
STI1
|
312 |
351 |
3.37e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023040
AA Change: V11I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000023040 Gene: ENSMUSG00000022404 AA Change: V11I
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 |
probably benign
Transcript: ENSMUST00000172107
|
SMART Domains |
Protein: ENSMUSP00000130195 Gene: ENSMUSG00000022403
Domain | Start | End | E-Value | Type |
PDB:4J8C|B
|
1 |
44 |
6e-25 |
PDB |
low complexity region
|
52 |
66 |
N/A |
INTRINSIC |
low complexity region
|
71 |
81 |
N/A |
INTRINSIC |
TPR
|
113 |
146 |
1.2e1 |
SMART |
TPR
|
147 |
180 |
6.95e-4 |
SMART |
TPR
|
181 |
214 |
4.8e1 |
SMART |
coiled coil region
|
234 |
273 |
N/A |
INTRINSIC |
low complexity region
|
280 |
314 |
N/A |
INTRINSIC |
STI1
|
321 |
360 |
3.37e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229617
|
Predicted Effect |
unknown
Transcript: ENSMUST00000230309
AA Change: V10I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231078
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231140
AA Change: V11I
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Meta Mutation Damage Score |
0.0997 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (46/46) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,350,697 (GRCm39) |
|
probably null |
Het |
Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
Amn1 |
A |
T |
6: 149,070,950 (GRCm39) |
L196* |
probably null |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
Brip1 |
A |
T |
11: 86,043,495 (GRCm39) |
Y356* |
probably null |
Het |
Ccdc40 |
C |
T |
11: 119,125,605 (GRCm39) |
P348L |
probably benign |
Het |
Chrdl2 |
G |
A |
7: 99,673,075 (GRCm39) |
C9Y |
probably damaging |
Het |
Chst4 |
T |
C |
8: 110,757,038 (GRCm39) |
D192G |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
Dmgdh |
T |
C |
13: 93,847,869 (GRCm39) |
V522A |
probably benign |
Het |
Dtx2 |
T |
A |
5: 136,041,332 (GRCm39) |
Y246N |
probably damaging |
Het |
Gtf2ird1 |
T |
A |
5: 134,417,354 (GRCm39) |
M518L |
probably benign |
Het |
Hoxc6 |
T |
A |
15: 102,919,327 (GRCm39) |
W188R |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,904,655 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
Kif4-ps |
A |
T |
12: 101,113,230 (GRCm39) |
E453V |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
Mr1 |
T |
C |
1: 155,013,337 (GRCm39) |
Y80C |
probably damaging |
Het |
Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
Or4c123 |
C |
G |
2: 89,126,897 (GRCm39) |
S239T |
probably benign |
Het |
Or4g7 |
A |
G |
2: 111,309,297 (GRCm39) |
H56R |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
Or8d1 |
A |
G |
9: 38,766,621 (GRCm39) |
K88E |
possibly damaging |
Het |
Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,459,774 (GRCm39) |
V124A |
probably damaging |
Het |
Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,544,990 (GRCm39) |
I230T |
probably damaging |
Het |
Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,213,964 (GRCm39) |
D52E |
possibly damaging |
Het |
Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
Telo2 |
C |
T |
17: 25,329,726 (GRCm39) |
R262Q |
probably damaging |
Het |
Zdhhc14 |
T |
A |
17: 5,803,366 (GRCm39) |
*490R |
probably null |
Het |
Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
Zfp712 |
C |
T |
13: 67,200,456 (GRCm39) |
V10M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGATAGTCCAGACAGTCTCTG -3'
(R):5'- CGTTCCTGGGCATTTCACAC -3'
Sequencing Primer
(F):5'- CAGACAGTCTCTGGGAAAGTCC -3'
(R):5'- GGGCATTTCACACTCGCC -3'
|
Posted On |
2015-02-18 |