Incidental Mutation 'IGL02944:Slc25a54'
ID |
364663 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc25a54
|
Ensembl Gene |
ENSMUSG00000027880 |
Gene Name |
solute carrier family 25, member 54 |
Synonyms |
4930443G12Rik, SCaMC-1like |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
IGL02944
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108987931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 24
(Y24F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029478]
[ENSMUST00000159926]
|
AlphaFold |
B1AUS6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029478
AA Change: Y24F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000029478 Gene: ENSMUSG00000027880 AA Change: Y24F
Domain | Start | End | E-Value | Type |
EFh
|
23 |
51 |
4.28e0 |
SMART |
EFh
|
59 |
87 |
3.82e0 |
SMART |
EFh
|
90 |
118 |
4.12e-3 |
SMART |
EFh
|
126 |
154 |
3.44e1 |
SMART |
Pfam:Mito_carr
|
191 |
283 |
3.7e-25 |
PFAM |
Pfam:Mito_carr
|
284 |
376 |
7.2e-24 |
PFAM |
Pfam:Mito_carr
|
383 |
472 |
2.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159926
AA Change: Y24F
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000124484 Gene: ENSMUSG00000027880 AA Change: Y24F
Domain | Start | End | E-Value | Type |
Blast:EFh
|
1 |
21 |
6e-9 |
BLAST |
Pfam:Mito_carr
|
57 |
150 |
3.2e-26 |
PFAM |
Pfam:Mito_carr
|
151 |
243 |
3.6e-25 |
PFAM |
Pfam:Mito_carr
|
249 |
339 |
1.5e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195936
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
Cav2 |
T |
C |
6: 17,281,456 (GRCm39) |
Y33H |
probably damaging |
Het |
Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
Gmds |
T |
A |
13: 32,522,435 (GRCm39) |
Y11F |
probably benign |
Het |
Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,969,688 (GRCm39) |
D320N |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
Prdm1 |
T |
C |
10: 44,317,807 (GRCm39) |
S354G |
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,482,865 (GRCm39) |
|
probably benign |
Het |
Trim30a |
G |
T |
7: 104,084,984 (GRCm39) |
N75K |
probably benign |
Het |
Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
probably benign |
Het |
|
Other mutations in Slc25a54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Slc25a54
|
APN |
3 |
109,020,176 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02635:Slc25a54
|
APN |
3 |
109,020,133 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02987:Slc25a54
|
APN |
3 |
109,023,653 (GRCm39) |
missense |
probably benign |
|
IGL03346:Slc25a54
|
APN |
3 |
108,993,046 (GRCm39) |
intron |
probably benign |
|
R0491:Slc25a54
|
UTSW |
3 |
109,010,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0520:Slc25a54
|
UTSW |
3 |
109,014,546 (GRCm39) |
splice site |
probably benign |
|
R0645:Slc25a54
|
UTSW |
3 |
109,019,481 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1803:Slc25a54
|
UTSW |
3 |
109,010,013 (GRCm39) |
missense |
probably benign |
|
R1869:Slc25a54
|
UTSW |
3 |
108,987,932 (GRCm39) |
nonsense |
probably null |
|
R1870:Slc25a54
|
UTSW |
3 |
108,987,932 (GRCm39) |
nonsense |
probably null |
|
R3024:Slc25a54
|
UTSW |
3 |
108,987,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R3763:Slc25a54
|
UTSW |
3 |
109,019,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Slc25a54
|
UTSW |
3 |
109,023,820 (GRCm39) |
missense |
probably benign |
0.03 |
R3941:Slc25a54
|
UTSW |
3 |
109,019,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R4346:Slc25a54
|
UTSW |
3 |
109,010,055 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4347:Slc25a54
|
UTSW |
3 |
109,010,055 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4445:Slc25a54
|
UTSW |
3 |
109,005,984 (GRCm39) |
missense |
probably benign |
0.00 |
R4735:Slc25a54
|
UTSW |
3 |
109,005,923 (GRCm39) |
missense |
probably damaging |
0.96 |
R4914:Slc25a54
|
UTSW |
3 |
109,018,395 (GRCm39) |
missense |
probably benign |
0.34 |
R4960:Slc25a54
|
UTSW |
3 |
109,020,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5052:Slc25a54
|
UTSW |
3 |
109,010,016 (GRCm39) |
missense |
probably benign |
0.03 |
R5106:Slc25a54
|
UTSW |
3 |
109,020,180 (GRCm39) |
missense |
probably benign |
0.02 |
R5806:Slc25a54
|
UTSW |
3 |
108,987,894 (GRCm39) |
missense |
probably benign |
|
R5936:Slc25a54
|
UTSW |
3 |
109,005,954 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6511:Slc25a54
|
UTSW |
3 |
109,001,572 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6532:Slc25a54
|
UTSW |
3 |
109,019,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Slc25a54
|
UTSW |
3 |
109,020,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7139:Slc25a54
|
UTSW |
3 |
109,005,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Slc25a54
|
UTSW |
3 |
109,014,573 (GRCm39) |
missense |
probably benign |
0.00 |
R7282:Slc25a54
|
UTSW |
3 |
109,023,817 (GRCm39) |
nonsense |
probably null |
|
R7336:Slc25a54
|
UTSW |
3 |
109,023,751 (GRCm39) |
missense |
probably benign |
0.00 |
R7355:Slc25a54
|
UTSW |
3 |
109,010,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R7713:Slc25a54
|
UTSW |
3 |
109,010,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R8061:Slc25a54
|
UTSW |
3 |
109,018,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Slc25a54
|
UTSW |
3 |
109,006,005 (GRCm39) |
critical splice donor site |
probably null |
|
R9095:Slc25a54
|
UTSW |
3 |
109,019,404 (GRCm39) |
missense |
probably benign |
0.09 |
R9156:Slc25a54
|
UTSW |
3 |
109,001,548 (GRCm39) |
missense |
probably benign |
0.03 |
R9568:Slc25a54
|
UTSW |
3 |
109,005,932 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc25a54
|
UTSW |
3 |
109,019,434 (GRCm39) |
frame shift |
probably null |
|
Z1177:Slc25a54
|
UTSW |
3 |
109,010,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |