Incidental Mutation 'IGL01614:Slc25a23'
| ID |
92332 |
| 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 # |
IGL01614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57352579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 435
(R435Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040280]
[ENSMUST00000058661]
[ENSMUST00000169012]
[ENSMUST00000171528]
|
| AlphaFold |
Q6GQS1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040280
AA Change: R435Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: R435Q
| 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 |
probably null
Transcript: ENSMUST00000058661
|
| SMART Domains |
Protein: ENSMUSP00000058877
Gene: ENSMUSG00000011486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
25 |
118 |
4.5e-22 |
PFAM |
|
Pfam:Mito_carr
|
119 |
210 |
7.8e-21 |
PFAM |
|
Pfam:Mito_carr
|
215 |
308 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163442
|
| SMART Domains |
Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
| 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 |
probably null
Transcript: ENSMUST00000169012
|
| SMART Domains |
Protein: ENSMUSP00000130857
Gene: ENSMUSG00000011486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
11 |
104 |
3.7e-24 |
PFAM |
|
Pfam:Mito_carr
|
105 |
197 |
3.5e-22 |
PFAM |
|
Pfam:Mito_carr
|
201 |
294 |
4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169146
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170015
AA Change: R234Q
|
| SMART Domains |
Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: R234Q
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
A |
17: 43,735,362 (GRCm39) |
S143T |
possibly damaging |
Het |
| Arhgap32 |
G |
T |
9: 32,171,801 (GRCm39) |
S1527I |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,282,437 (GRCm39) |
V128A |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,113,866 (GRCm39) |
F255L |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,625 (GRCm39) |
D269E |
probably benign |
Het |
| Cyria |
T |
C |
12: 12,411,574 (GRCm39) |
|
probably null |
Het |
| E2f7 |
T |
C |
10: 110,595,839 (GRCm39) |
V63A |
probably damaging |
Het |
| Eif4e1b |
T |
A |
13: 54,934,729 (GRCm39) |
I184N |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,996 (GRCm39) |
L401Q |
probably damaging |
Het |
| Gm7808 |
G |
A |
9: 19,839,442 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
G |
A |
11: 102,090,854 (GRCm39) |
T741I |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,172,507 (GRCm39) |
T522A |
probably benign |
Het |
| Lama5 |
A |
C |
2: 179,822,657 (GRCm39) |
F2832V |
probably damaging |
Het |
| Ltk |
A |
C |
2: 119,583,968 (GRCm39) |
L230R |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,167,609 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,433,173 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,156,095 (GRCm39) |
I554K |
possibly damaging |
Het |
| Or1j12 |
T |
G |
2: 36,342,636 (GRCm39) |
I13S |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,529 (GRCm39) |
C30Y |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,576 (GRCm39) |
V221I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,741 (GRCm39) |
I140N |
possibly damaging |
Het |
| Prr14 |
T |
A |
7: 127,074,305 (GRCm39) |
L279H |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,706,341 (GRCm39) |
D229Y |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,684 (GRCm39) |
K1926E |
probably damaging |
Het |
| Srebf2 |
A |
G |
15: 82,063,054 (GRCm39) |
N457S |
probably benign |
Het |
| Stac2 |
T |
C |
11: 97,943,774 (GRCm39) |
D12G |
probably benign |
Het |
| Tal1 |
A |
C |
4: 114,920,325 (GRCm39) |
|
probably null |
Het |
| Usp25 |
G |
A |
16: 76,874,005 (GRCm39) |
R527Q |
probably damaging |
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 |
|
IGL01919:Slc25a23
|
APN |
17 |
57,354,291 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
2013-12-09 |
Incidental Mutation