Incidental Mutation 'R1317:Slc25a23'
ID |
157585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a23
|
Ensembl Gene |
ENSMUSG00000046329 |
Gene Name |
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 |
Synonyms |
SCaMC-3, 2310067G05Rik |
MMRRC Submission |
039383-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1317 (G1)
|
Quality Score |
143 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57360888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 179
(K179E)
|
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: K179E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040198 Gene: ENSMUSG00000046329 AA Change: K179E
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000165187
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170015
|
SMART Domains |
Protein: ENSMUSP00000132169 Gene: ENSMUSG00000046329
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 |
|
Meta Mutation Damage Score |
0.1896 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
Validation Efficiency |
100% (42/42) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
Het |
Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGCACGTTGATGCCGTTGC -3'
(R):5'- TCGGGAGATCCAGAGATGTTCACC -3'
Sequencing Primer
(F):5'- TCAGGCCCCCTAGAATGTTAAG -3'
(R):5'- CCATTGGGAAATCTATTGCTGGAC -3'
|
Posted On |
2014-02-18 |