Incidental Mutation 'IGL01919:Slc25a23'
| ID |
180053 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a23
|
| Ensembl Gene |
ENSMUSG00000046329 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 |
| Synonyms |
SCaMC-3, 2310067G05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57354291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 372
(N372Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040280]
[ENSMUST00000171528]
|
| AlphaFold |
Q6GQS1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040280
AA Change: N372Y
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: N372Y
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
2.72e-3 |
SMART |
|
EFh
|
80 |
108 |
1.09e0 |
SMART |
|
EFh
|
116 |
144 |
3.07e1 |
SMART |
|
Pfam:Mito_carr
|
181 |
273 |
3.8e-25 |
PFAM |
|
Pfam:Mito_carr
|
274 |
366 |
4.1e-26 |
PFAM |
|
Pfam:Mito_carr
|
372 |
465 |
6.5e-21 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163442
AA Change: N63Y
|
| SMART Domains |
Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: N63Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
58 |
6.5e-15 |
PFAM |
|
Pfam:Mito_carr
|
64 |
123 |
1.9e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169146
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170015
AA Change: N171Y
|
| SMART Domains |
Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: N171Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
76 |
1.9e-19 |
PFAM |
|
Pfam:Mito_carr
|
77 |
166 |
1.2e-21 |
PFAM |
|
Pfam:Mito_carr
|
172 |
265 |
7.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171528
AA Change: N120Y
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: N120Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
22 |
114 |
8.3e-29 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired mitochondrial function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,608,580 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,604,986 (GRCm39) |
F2212S |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,475,098 (GRCm39) |
I155V |
possibly damaging |
Het |
| Aoc1 |
G |
A |
6: 48,885,223 (GRCm39) |
V653M |
probably damaging |
Het |
| Arl8b |
T |
C |
6: 108,798,518 (GRCm39) |
|
probably benign |
Het |
| Bax |
A |
C |
7: 45,115,552 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
G |
A |
8: 123,852,382 (GRCm39) |
E195K |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,539,168 (GRCm39) |
I2330T |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,501,940 (GRCm39) |
S297P |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,504,155 (GRCm39) |
K311E |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,691,906 (GRCm39) |
L410P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,886 (GRCm39) |
T536A |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,245,806 (GRCm39) |
T2173I |
possibly damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,055,556 (GRCm39) |
V783A |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,811 (GRCm39) |
V509A |
unknown |
Het |
| Lrwd1 |
A |
T |
5: 136,164,729 (GRCm39) |
L26* |
probably null |
Het |
| Mal2 |
T |
A |
15: 54,451,728 (GRCm39) |
W50R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,871 (GRCm39) |
E819V |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,170 (GRCm39) |
F635L |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,562,178 (GRCm39) |
E327K |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,453,103 (GRCm39) |
D308G |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,824 (GRCm39) |
Q101* |
probably null |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,454,254 (GRCm39) |
E26G |
probably damaging |
Het |
| Rgs16 |
T |
A |
1: 153,617,804 (GRCm39) |
S105T |
probably damaging |
Het |
| Slc35e2 |
A |
G |
4: 155,697,187 (GRCm39) |
M234V |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,334 (GRCm39) |
V346A |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,847,654 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
A |
C |
8: 43,643,349 (GRCm39) |
T177P |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,267,245 (GRCm39) |
T959A |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Slc25a23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Slc25a23
|
APN |
17 |
57,354,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01614:Slc25a23
|
APN |
17 |
57,352,579 (GRCm39) |
missense |
probably null |
0.98 |
|
IGL01933:Slc25a23
|
APN |
17 |
57,359,813 (GRCm39) |
nonsense |
probably null |
|
|
IGL02297:Slc25a23
|
APN |
17 |
57,360,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1317:Slc25a23
|
UTSW |
17 |
57,360,888 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1411:Slc25a23
|
UTSW |
17 |
57,366,622 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1577:Slc25a23
|
UTSW |
17 |
57,354,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2156:Slc25a23
|
UTSW |
17 |
57,352,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4581:Slc25a23
|
UTSW |
17 |
57,359,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4755:Slc25a23
|
UTSW |
17 |
57,359,794 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4786:Slc25a23
|
UTSW |
17 |
57,354,326 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4789:Slc25a23
|
UTSW |
17 |
57,366,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Slc25a23
|
UTSW |
17 |
57,360,336 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5423:Slc25a23
|
UTSW |
17 |
57,360,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5478:Slc25a23
|
UTSW |
17 |
57,359,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Slc25a23
|
UTSW |
17 |
57,352,500 (GRCm39) |
unclassified |
probably benign |
|
|
R5787:Slc25a23
|
UTSW |
17 |
57,360,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Slc25a23
|
UTSW |
17 |
57,359,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6420:Slc25a23
|
UTSW |
17 |
57,359,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6462:Slc25a23
|
UTSW |
17 |
57,359,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Slc25a23
|
UTSW |
17 |
57,360,804 (GRCm39) |
nonsense |
probably null |
|
|
R6858:Slc25a23
|
UTSW |
17 |
57,365,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Slc25a23
|
UTSW |
17 |
57,359,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Slc25a23
|
UTSW |
17 |
57,360,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Slc25a23
|
UTSW |
17 |
57,359,822 (GRCm39) |
nonsense |
probably null |
|
|
R7543:Slc25a23
|
UTSW |
17 |
57,365,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7646:Slc25a23
|
UTSW |
17 |
57,366,759 (GRCm39) |
unclassified |
probably benign |
|
|
R8879:Slc25a23
|
UTSW |
17 |
57,366,709 (GRCm39) |
unclassified |
probably benign |
|
|
R9042:Slc25a23
|
UTSW |
17 |
57,352,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Slc25a23
|
UTSW |
17 |
57,354,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9399:Slc25a23
|
UTSW |
17 |
57,360,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Slc25a23
|
UTSW |
17 |
57,362,350 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2014-05-07 |
Incidental Mutation