Incidental Mutation 'IGL02635:Slc25a54'
| ID |
301469 |
| 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: 0.138)
|
| Stock # |
IGL02635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109020133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 382
(N382K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029478]
[ENSMUST00000159926]
|
| AlphaFold |
B1AUS6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029478
AA Change: N382K
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: N382K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
A |
C |
12: 112,381,586 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
C |
T |
8: 87,236,311 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,120,500 (GRCm39) |
S3639P |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,691,590 (GRCm39) |
V1124I |
possibly damaging |
Het |
| AW209491 |
C |
T |
13: 14,811,852 (GRCm39) |
A235V |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,581,009 (GRCm39) |
D58E |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,870,070 (GRCm39) |
M25K |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,737,910 (GRCm39) |
I1096V |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,427 (GRCm39) |
I410F |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,365,902 (GRCm39) |
L693P |
probably damaging |
Het |
| Golgb1 |
G |
T |
16: 36,735,375 (GRCm39) |
V1541L |
probably benign |
Het |
| Gpr143 |
G |
A |
X: 151,591,257 (GRCm39) |
E382K |
probably damaging |
Het |
| Gpr171 |
C |
T |
3: 59,005,017 (GRCm39) |
V253I |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,814 (GRCm39) |
W10R |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,913,556 (GRCm39) |
D116V |
possibly damaging |
Het |
| Ifih1 |
A |
T |
2: 62,442,173 (GRCm39) |
L348Q |
probably damaging |
Het |
| Ighv1-50 |
G |
A |
12: 115,083,615 (GRCm39) |
A35V |
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,459 (GRCm39) |
M112L |
probably benign |
Het |
| Lrrc59 |
T |
A |
11: 94,534,282 (GRCm39) |
V280E |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,185,845 (GRCm39) |
I223K |
probably damaging |
Het |
| Oog3 |
T |
C |
4: 143,884,715 (GRCm39) |
N407S |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,701,251 (GRCm39) |
I72V |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,657,453 (GRCm39) |
*1035W |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,785 (GRCm39) |
F1157L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,135,842 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,907,631 (GRCm39) |
E888G |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,549,246 (GRCm39) |
G251E |
unknown |
Het |
| Prkar2a |
A |
G |
9: 108,605,476 (GRCm39) |
E178G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,592,122 (GRCm39) |
T352S |
possibly damaging |
Het |
| S1pr1 |
T |
C |
3: 115,505,739 (GRCm39) |
K285R |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,067,898 (GRCm39) |
H995R |
probably benign |
Het |
| Snrnp48 |
T |
G |
13: 38,393,845 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,943,549 (GRCm39) |
D201G |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,500,685 (GRCm39) |
D625G |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,103,565 (GRCm39) |
H1380R |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,142,296 (GRCm39) |
M430K |
probably benign |
Het |
| Tlr12 |
A |
T |
4: 128,510,609 (GRCm39) |
V547E |
probably damaging |
Het |
| Tmem255b |
G |
T |
8: 13,505,195 (GRCm39) |
D167Y |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,923,981 (GRCm39) |
R735G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,848,972 (GRCm39) |
T73A |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,850,827 (GRCm39) |
L1748F |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
| Ybx1 |
T |
C |
4: 119,136,286 (GRCm39) |
N282S |
possibly damaging |
Het |
| Zdhhc12 |
T |
A |
2: 29,983,531 (GRCm39) |
I24F |
probably damaging |
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 |
|
IGL02944:Slc25a54
|
APN |
3 |
108,987,931 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
2015-04-16 |
Incidental Mutation