Incidental Mutation 'IGL00905:Slc25a47'
ID |
28701 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc25a47
|
Ensembl Gene |
ENSMUSG00000048856 |
Gene Name |
solute carrier family 25, member 47 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00905
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
108815740-108822741 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 108821314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 141
(T141K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057026]
[ENSMUST00000109848]
[ENSMUST00000160477]
[ENSMUST00000161154]
[ENSMUST00000161410]
[ENSMUST00000221080]
|
AlphaFold |
Q6IS41 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057026
AA Change: T141K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000050329 Gene: ENSMUSG00000048856 AA Change: T141K
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
84 |
1.2e-19 |
PFAM |
Pfam:Mito_carr
|
94 |
212 |
1.5e-19 |
PFAM |
Pfam:Mito_carr
|
215 |
308 |
6.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109848
|
SMART Domains |
Protein: ENSMUSP00000105474 Gene: ENSMUSG00000021266
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
447 |
5.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160477
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161154
|
SMART Domains |
Protein: ENSMUSP00000124625 Gene: ENSMUSG00000021266
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
446 |
1.4e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161410
|
SMART Domains |
Protein: ENSMUSP00000125320 Gene: ENSMUSG00000021266
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
447 |
5.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221080
AA Change: T141K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221787
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
D130040H23Rik |
A |
T |
8: 69,753,422 (GRCm39) |
K16I |
possibly damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
Fam161b |
C |
T |
12: 84,404,459 (GRCm39) |
V74I |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,466,068 (GRCm39) |
E504G |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
Pramel25 |
A |
G |
4: 143,521,844 (GRCm39) |
T487A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,465,754 (GRCm39) |
S366G |
probably benign |
Het |
Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
|
Other mutations in Slc25a47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01138:Slc25a47
|
APN |
12 |
108,821,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01545:Slc25a47
|
APN |
12 |
108,820,142 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01978:Slc25a47
|
APN |
12 |
108,817,116 (GRCm39) |
missense |
probably damaging |
0.96 |
R0592:Slc25a47
|
UTSW |
12 |
108,820,184 (GRCm39) |
missense |
probably damaging |
0.98 |
R4783:Slc25a47
|
UTSW |
12 |
108,821,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R5549:Slc25a47
|
UTSW |
12 |
108,822,143 (GRCm39) |
makesense |
probably null |
|
R6085:Slc25a47
|
UTSW |
12 |
108,820,254 (GRCm39) |
missense |
probably benign |
0.19 |
R6378:Slc25a47
|
UTSW |
12 |
108,822,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R6612:Slc25a47
|
UTSW |
12 |
108,821,904 (GRCm39) |
missense |
probably benign |
0.02 |
R7237:Slc25a47
|
UTSW |
12 |
108,821,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R8304:Slc25a47
|
UTSW |
12 |
108,821,868 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8711:Slc25a47
|
UTSW |
12 |
108,820,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R8734:Slc25a47
|
UTSW |
12 |
108,820,247 (GRCm39) |
missense |
probably benign |
|
R9263:Slc25a47
|
UTSW |
12 |
108,820,215 (GRCm39) |
missense |
probably benign |
0.23 |
|
Posted On |
2013-04-17 |