Incidental Mutation 'R6574:Slc25a10'
| ID |
523363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a10
|
| Ensembl Gene |
ENSMUSG00000025792 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, dicarboxylate transporter), member 10 |
| Synonyms |
Dic |
| MMRRC Submission |
044698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6574 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120382666-120390013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120387903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 199
(F199L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026899]
|
| AlphaFold |
Q9QZD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026899
AA Change: F199L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792
AA Change: F199L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
5 |
92 |
4.1e-20 |
PFAM |
|
Pfam:Mito_carr
|
94 |
191 |
2e-18 |
PFAM |
|
Pfam:Mito_carr
|
195 |
284 |
7.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152187
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
C |
3: 146,356,613 (GRCm39) |
D98E |
probably benign |
Het |
| Ackr3 |
T |
C |
1: 90,141,790 (GRCm39) |
I83T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,161,653 (GRCm39) |
|
probably null |
Het |
| Arap1 |
T |
A |
7: 101,053,208 (GRCm39) |
I532N |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,153 (GRCm39) |
V1533A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,875,885 (GRCm39) |
S329G |
possibly damaging |
Het |
| Ccno |
T |
A |
13: 113,124,719 (GRCm39) |
D96E |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Degs1 |
T |
C |
1: 182,106,638 (GRCm39) |
Y207C |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,495,693 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,059,107 (GRCm39) |
A63T |
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,711 (GRCm39) |
F100S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,460,596 (GRCm39) |
Y722* |
probably null |
Het |
| Etfa |
A |
T |
9: 55,402,910 (GRCm39) |
I96N |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,516,199 (GRCm39) |
T101A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,781,268 (GRCm39) |
I381T |
probably benign |
Het |
| Gria2 |
A |
G |
3: 80,596,603 (GRCm39) |
V821A |
probably damaging |
Het |
| Gss |
G |
T |
2: 155,423,931 (GRCm39) |
T51K |
probably damaging |
Het |
| Igkv13-84 |
C |
A |
6: 68,916,977 (GRCm39) |
Y91* |
probably null |
Het |
| Iqcb1 |
A |
T |
16: 36,691,863 (GRCm39) |
Q487H |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,234,972 (GRCm39) |
H429Y |
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,547,124 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,129,394 (GRCm39) |
|
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,828,434 (GRCm39) |
L294P |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,134 (GRCm39) |
L271P |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,654 (GRCm39) |
D290G |
probably damaging |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,533 (GRCm39) |
D425G |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,584 (GRCm39) |
P678L |
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,541,596 (GRCm39) |
Q147P |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,724,692 (GRCm39) |
S15P |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,197 (GRCm39) |
N801S |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,994,020 (GRCm39) |
Y183H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,063,086 (GRCm39) |
D520G |
possibly damaging |
Het |
| Trgc3 |
G |
T |
13: 19,445,293 (GRCm39) |
R80S |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,360 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,331 (GRCm39) |
P803L |
probably benign |
Het |
| Ubash3a |
A |
T |
17: 31,451,370 (GRCm39) |
Q423L |
probably damaging |
Het |
| Ucp1 |
G |
A |
8: 84,020,718 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
T |
17: 18,476,421 (GRCm39) |
N425K |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,452 (GRCm39) |
M418V |
probably null |
Het |
|
| Other mutations in Slc25a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Slc25a10
|
APN |
11 |
120,387,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00816:Slc25a10
|
APN |
11 |
120,385,976 (GRCm39) |
splice site |
probably benign |
|
|
IGL02448:Slc25a10
|
APN |
11 |
120,387,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2291:Slc25a10
|
UTSW |
11 |
120,387,900 (GRCm39) |
missense |
probably benign |
|
|
R2860:Slc25a10
|
UTSW |
11 |
120,386,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2861:Slc25a10
|
UTSW |
11 |
120,386,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3938:Slc25a10
|
UTSW |
11 |
120,382,819 (GRCm39) |
nonsense |
probably null |
|
|
R4019:Slc25a10
|
UTSW |
11 |
120,388,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4020:Slc25a10
|
UTSW |
11 |
120,388,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4457:Slc25a10
|
UTSW |
11 |
120,387,915 (GRCm39) |
missense |
probably benign |
|
|
R4542:Slc25a10
|
UTSW |
11 |
120,388,807 (GRCm39) |
splice site |
probably null |
|
|
R5643:Slc25a10
|
UTSW |
11 |
120,387,202 (GRCm39) |
intron |
probably benign |
|
|
R5869:Slc25a10
|
UTSW |
11 |
120,388,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6032:Slc25a10
|
UTSW |
11 |
120,385,784 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6032:Slc25a10
|
UTSW |
11 |
120,385,784 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6455:Slc25a10
|
UTSW |
11 |
120,386,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Slc25a10
|
UTSW |
11 |
120,388,973 (GRCm39) |
missense |
probably benign |
|
|
R7302:Slc25a10
|
UTSW |
11 |
120,382,782 (GRCm39) |
unclassified |
probably benign |
|
|
R7618:Slc25a10
|
UTSW |
11 |
120,387,797 (GRCm39) |
splice site |
probably null |
|
|
R7671:Slc25a10
|
UTSW |
11 |
120,386,286 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7883:Slc25a10
|
UTSW |
11 |
120,385,340 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8855:Slc25a10
|
UTSW |
11 |
120,385,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Slc25a10
|
UTSW |
11 |
120,386,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATGTCCATGTGTGGTGAC -3'
(R):5'- AGAATTCTTGCAGCCCTGG -3'
Sequencing Primer
(F):5'- ACGCAGGTCACAGCAGG -3'
(R):5'- CTGGGTCTCCAAGAGAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation