Incidental Mutation 'R6858:Slc25a23'
ID |
535390 |
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 |
044960-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6858 (G1)
|
Quality Score |
217.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57365171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 73
(Y73H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040280]
[ENSMUST00000071826]
[ENSMUST00000097299]
[ENSMUST00000163628]
[ENSMUST00000163763]
[ENSMUST00000169543]
[ENSMUST00000171528]
|
AlphaFold |
Q6GQS1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040280
AA Change: Y73H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040198 Gene: ENSMUSG00000046329 AA Change: Y73H
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: ENSMUST00000071826
|
SMART Domains |
Protein: ENSMUSP00000071729 Gene: ENSMUSG00000044279
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097299
|
SMART Domains |
Protein: ENSMUSP00000094902 Gene: ENSMUSG00000044279
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163628
|
SMART Domains |
Protein: ENSMUSP00000126402 Gene: ENSMUSG00000044279
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
SCOP:d1fwxa1
|
30 |
52 |
5e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163763
|
SMART Domains |
Protein: ENSMUSP00000132502 Gene: ENSMUSG00000044279
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169543
|
SMART Domains |
Protein: ENSMUSP00000125760 Gene: ENSMUSG00000044279
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
96% (49/51) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldob |
T |
C |
4: 49,538,796 (GRCm39) |
T241A |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,070,283 (GRCm39) |
I65V |
probably benign |
Het |
Bhmt2 |
C |
T |
13: 93,807,948 (GRCm39) |
E47K |
probably damaging |
Het |
Bpifa3 |
G |
A |
2: 153,979,514 (GRCm39) |
G213D |
probably benign |
Het |
C4b |
C |
G |
17: 34,948,805 (GRCm39) |
A1548P |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,874,017 (GRCm39) |
V605A |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,420,195 (GRCm39) |
|
probably null |
Het |
Cntrl |
T |
C |
2: 35,052,107 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,385,144 (GRCm39) |
D87G |
probably damaging |
Het |
Crim1 |
A |
T |
17: 78,623,056 (GRCm39) |
E418V |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,307,174 (GRCm39) |
I196M |
possibly damaging |
Het |
Crtap |
T |
C |
9: 114,209,084 (GRCm39) |
Y320C |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,448,452 (GRCm39) |
V27A |
probably damaging |
Het |
Cyp2c69 |
G |
A |
19: 39,866,009 (GRCm39) |
L195F |
probably benign |
Het |
Cyp2d26 |
G |
A |
15: 82,678,284 (GRCm39) |
R31C |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fign |
G |
T |
2: 63,810,157 (GRCm39) |
T371K |
probably benign |
Het |
Fryl |
T |
C |
5: 73,222,375 (GRCm39) |
T2069A |
probably damaging |
Het |
Gm3486 |
A |
G |
14: 41,210,322 (GRCm39) |
I53T |
probably damaging |
Het |
Gprc5d |
T |
C |
6: 135,093,313 (GRCm39) |
N198S |
possibly damaging |
Het |
Ighv1-42 |
A |
G |
12: 114,900,966 (GRCm39) |
S40P |
probably damaging |
Het |
Itga8 |
A |
G |
2: 12,204,892 (GRCm39) |
V515A |
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,058,542 (GRCm39) |
I523L |
possibly damaging |
Het |
Lmx1a |
A |
T |
1: 167,660,450 (GRCm39) |
N245I |
probably damaging |
Het |
Med22 |
T |
C |
2: 26,795,949 (GRCm39) |
D157G |
possibly damaging |
Het |
Ola1 |
T |
C |
2: 72,927,574 (GRCm39) |
H335R |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,925 (GRCm39) |
M199L |
probably benign |
Het |
Or4c12 |
A |
G |
2: 89,774,087 (GRCm39) |
I124T |
probably damaging |
Het |
Or6c213 |
A |
G |
10: 129,574,333 (GRCm39) |
F151S |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,765 (GRCm39) |
I214T |
probably damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,034 (GRCm39) |
I256T |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,959,502 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,198,219 (GRCm39) |
G304D |
probably benign |
Het |
Potegl |
T |
C |
2: 23,102,676 (GRCm39) |
V138A |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,095,470 (GRCm39) |
C325S |
possibly damaging |
Het |
Ptk2b |
T |
C |
14: 66,450,847 (GRCm39) |
I40V |
probably damaging |
Het |
Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,321,156 (GRCm39) |
I1469V |
probably benign |
Het |
Serpina3k |
G |
A |
12: 104,311,504 (GRCm39) |
A361T |
possibly damaging |
Het |
Tmco3 |
A |
G |
8: 13,363,924 (GRCm39) |
D82G |
probably damaging |
Het |
Trbv28 |
G |
T |
6: 41,248,624 (GRCm39) |
M51I |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,165,828 (GRCm39) |
H204L |
possibly damaging |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Vmn1r25 |
T |
C |
6: 57,955,996 (GRCm39) |
S98G |
probably benign |
Het |
Vmn2r2 |
A |
G |
3: 64,044,915 (GRCm39) |
F77S |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,686,580 (GRCm39) |
M654L |
probably benign |
Het |
Zfp985 |
A |
T |
4: 147,667,764 (GRCm39) |
K211* |
probably null |
Het |
Zwilch |
C |
T |
9: 64,060,869 (GRCm39) |
D328N |
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 |
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 |
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 |
|
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'- CCTAGTTGCAGCTGAGAACTCC -3'
(R):5'- CAGATTCTTCTTATGGCCTGGG -3'
Sequencing Primer
(F):5'- GTTGCAGCTGAGAACTCCCAAAATAG -3'
(R):5'- TCCATGAGGAACTGGGGCTC -3'
|
Posted On |
2018-09-12 |