Incidental Mutation 'R5402:Slc25a23'
| ID |
430076 |
| 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 |
042973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57360336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 269
(I269V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040280]
[ENSMUST00000171528]
|
| AlphaFold |
Q6GQS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040280
AA Change: I269V
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: I269V
| 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 |
unknown
Transcript: ENSMUST00000170015
AA Change: I71V
|
| SMART Domains |
Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: I71V
| 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: I17V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: I17V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
22 |
114 |
8.3e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,607,834 (GRCm39) |
D4079E |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,440,962 (GRCm39) |
D344G |
probably damaging |
Het |
| Car9 |
A |
G |
4: 43,510,213 (GRCm39) |
N265S |
probably damaging |
Het |
| Ccr7 |
A |
G |
11: 99,036,560 (GRCm39) |
S121P |
possibly damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,536,603 (GRCm39) |
L1278P |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,872 (GRCm39) |
S230R |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,143,951 (GRCm39) |
V566M |
probably benign |
Het |
| Csf2 |
A |
T |
11: 54,138,489 (GRCm39) |
Y117* |
probably null |
Het |
| Cwf19l1 |
C |
T |
19: 44,121,524 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
C |
T |
15: 82,503,287 (GRCm39) |
G69D |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,114,949 (GRCm39) |
V170E |
probably damaging |
Het |
| Ehbp1l1 |
T |
A |
19: 5,766,348 (GRCm39) |
T388S |
possibly damaging |
Het |
| Etfa |
T |
C |
9: 55,362,023 (GRCm39) |
I329M |
probably benign |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
G |
A |
2: 53,018,794 (GRCm39) |
V1078I |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,388,250 (GRCm39) |
L797P |
possibly damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,897,750 (GRCm39) |
|
probably null |
Het |
| Greb1l |
A |
G |
18: 10,537,169 (GRCm39) |
T1045A |
probably benign |
Het |
| Hapln1 |
A |
G |
13: 89,753,530 (GRCm39) |
N232S |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,523,965 (GRCm39) |
M311K |
probably benign |
Het |
| Hus1 |
C |
T |
11: 8,960,240 (GRCm39) |
|
probably null |
Het |
| Il31ra |
T |
C |
13: 112,660,669 (GRCm39) |
E640G |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,762,769 (GRCm39) |
F101L |
probably damaging |
Het |
| Lbr |
A |
T |
1: 181,647,526 (GRCm39) |
M417K |
probably benign |
Het |
| Lrig3 |
T |
G |
10: 125,844,609 (GRCm39) |
L691R |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,319,148 (GRCm39) |
F792Y |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,961,408 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,371 (GRCm39) |
T500K |
probably damaging |
Het |
| Nxph4 |
A |
T |
10: 127,362,133 (GRCm39) |
C253S |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,878 (GRCm38) |
Y256H |
probably damaging |
Het |
| Or4s2b |
T |
A |
2: 88,508,492 (GRCm39) |
S98T |
possibly damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,747 (GRCm39) |
R400Q |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,018,507 (GRCm39) |
A915S |
probably damaging |
Het |
| Plat |
T |
G |
8: 23,262,738 (GRCm39) |
W148G |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Pramel27 |
G |
A |
4: 143,578,225 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
A |
G |
13: 67,081,663 (GRCm39) |
D31G |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,825,236 (GRCm39) |
D64G |
probably damaging |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,656 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,556,331 (GRCm39) |
S141T |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,621,665 (GRCm39) |
M966V |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,106,213 (GRCm39) |
V5526E |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,568,860 (GRCm39) |
S596P |
probably benign |
Het |
| Tg |
T |
A |
15: 66,611,017 (GRCm39) |
I356N |
probably damaging |
Het |
| Ttc6 |
C |
T |
12: 57,783,817 (GRCm39) |
R1759* |
probably null |
Het |
| Wdsub1 |
T |
C |
2: 59,700,822 (GRCm39) |
N138D |
probably benign |
Het |
| Zfp1001 |
A |
G |
2: 150,204,886 (GRCm39) |
I67V |
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 |
|
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 |
|
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'- TGGCTACTCCTGAAAGCAGATG -3'
(R):5'- TGGCTTATGAACAGGTAGGAC -3'
Sequencing Primer
(F):5'- GTGCAGAAAACCCTGGGTTCTATC -3'
(R):5'- AGGTATTCAGCATTGAAAAGCAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation