Incidental Mutation 'R6420:Slc25a23'
ID |
518170 |
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 |
044562-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6420 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57359780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 324
(I324V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040280]
[ENSMUST00000171528]
|
AlphaFold |
Q6GQS1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040280
AA Change: I324V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040198 Gene: ENSMUSG00000046329 AA Change: I324V
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: I15V
|
SMART Domains |
Protein: ENSMUSP00000132962 Gene: ENSMUSG00000046329 AA Change: I15V
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: I123V
|
SMART Domains |
Protein: ENSMUSP00000132169 Gene: ENSMUSG00000046329 AA Change: I123V
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: I72V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000128348 Gene: ENSMUSG00000046329 AA Change: I72V
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
22 |
114 |
8.3e-29 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,473,566 (GRCm39) |
I117N |
probably damaging |
Het |
Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,193,906 (GRCm39) |
E367G |
possibly damaging |
Het |
Epc2 |
T |
C |
2: 49,341,912 (GRCm39) |
V32A |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Hdlbp |
T |
C |
1: 93,358,726 (GRCm39) |
E275G |
probably damaging |
Het |
Kdm7a |
T |
C |
6: 39,142,102 (GRCm39) |
D392G |
probably damaging |
Het |
Lgmn |
T |
A |
12: 102,389,978 (GRCm39) |
R4* |
probably null |
Het |
Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
Mup1 |
C |
G |
4: 60,457,758 (GRCm39) |
E31Q |
possibly damaging |
Het |
Nckap1l |
G |
C |
15: 103,399,893 (GRCm39) |
G1025A |
possibly damaging |
Het |
Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
Pik3r5 |
G |
A |
11: 68,366,250 (GRCm39) |
W42* |
probably null |
Het |
Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
Rad1 |
T |
C |
15: 10,488,098 (GRCm39) |
V74A |
probably benign |
Het |
Scara3 |
C |
T |
14: 66,175,701 (GRCm39) |
G22D |
possibly damaging |
Het |
Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,483,516 (GRCm39) |
D1051E |
probably benign |
Het |
Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
Spag9 |
T |
C |
11: 93,977,128 (GRCm39) |
V78A |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
Zfp62 |
A |
T |
11: 49,107,340 (GRCm39) |
N477I |
probably damaging |
Het |
Zfp846 |
T |
C |
9: 20,505,007 (GRCm39) |
L289P |
probably damaging |
Het |
Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
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 |
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'- AGGGTTCCAAGACCCAACATAG -3'
(R):5'- CACATCTGCTTTCAGGAGTAGC -3'
Sequencing Primer
(F):5'- GGGTTCCAAGACCCAACATAGTTTTC -3'
(R):5'- AGTAGCCACTTCTAGGTGATGTCAC -3'
|
Posted On |
2018-05-24 |