Incidental Mutation 'R6462:Slc25a23'
| ID |
517656 |
| 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 |
044596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6462 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57350711-57366863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57359720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 344
(I344F)
|
| 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: I344F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: I344F
| 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: I35F
|
| SMART Domains |
Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: I35F
| 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: I143F
|
| SMART Domains |
Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: I143F
| 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 damaging
Transcript: ENSMUST00000171528
AA Change: I92F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: I92F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
22 |
114 |
8.3e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.7926 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
95% (37/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
| Cdc5l |
G |
A |
17: 45,703,975 (GRCm39) |
R750C |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,463,689 (GRCm39) |
E116K |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
| Me2 |
C |
A |
18: 73,908,470 (GRCm39) |
V490F |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,692,338 (GRCm39) |
T27A |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
| Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
| Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
| Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
| Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,555,596 (GRCm39) |
I587F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
| Traf3ip2 |
T |
A |
10: 39,515,243 (GRCm39) |
N340K |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
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 |
|
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'- AGACACCGGCCTGATATTTG -3'
(R):5'- TAGGTGATGTCACTCCTGGG -3'
Sequencing Primer
(F):5'- GGTCTTCCCAGGGTTCCAAGAC -3'
(R):5'- ATGTCACTCCTGGGTGTGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation