Incidental Mutation 'R2880:Slc25a30'
| ID |
260296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a30
|
| Ensembl Gene |
ENSMUSG00000022003 |
| Gene Name |
solute carrier family 25, member 30 |
| Synonyms |
KMCP1, 4933433D23Rik |
| MMRRC Submission |
040468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75997557-76024477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76007651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 118
(V118A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022580]
[ENSMUST00000227894]
|
| AlphaFold |
Q9CR58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022580
AA Change: V118A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022580
Gene: ENSMUSG00000022003
AA Change: V118A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
2 |
100 |
1.2e-22 |
PFAM |
|
Pfam:Mito_carr
|
102 |
194 |
3.2e-22 |
PFAM |
|
Pfam:Mito_carr
|
197 |
290 |
7.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227621
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227894
AA Change: V67A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
| Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
probably damaging |
Het |
|
| Other mutations in Slc25a30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Slc25a30
|
APN |
14 |
76,004,365 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00922:Slc25a30
|
APN |
14 |
76,007,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Slc25a30
|
APN |
14 |
76,007,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Slc25a30
|
APN |
14 |
76,004,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02573:Slc25a30
|
APN |
14 |
76,007,108 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Slc25a30
|
UTSW |
14 |
76,007,089 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0330:Slc25a30
|
UTSW |
14 |
76,000,112 (GRCm39) |
nonsense |
probably null |
|
|
R1743:Slc25a30
|
UTSW |
14 |
76,012,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1744:Slc25a30
|
UTSW |
14 |
76,000,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Slc25a30
|
UTSW |
14 |
76,007,007 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2122:Slc25a30
|
UTSW |
14 |
76,007,658 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4791:Slc25a30
|
UTSW |
14 |
76,000,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5158:Slc25a30
|
UTSW |
14 |
76,008,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5198:Slc25a30
|
UTSW |
14 |
76,007,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5505:Slc25a30
|
UTSW |
14 |
76,000,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6485:Slc25a30
|
UTSW |
14 |
76,012,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Slc25a30
|
UTSW |
14 |
76,012,451 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8859:Slc25a30
|
UTSW |
14 |
76,008,917 (GRCm39) |
missense |
probably benign |
0.42 |
|
X0027:Slc25a30
|
UTSW |
14 |
76,004,413 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGGATGCACACCACATGC -3'
(R):5'- TTCAGGAAGGCACAGCATG -3'
Sequencing Primer
(F):5'- ACATGCCCTACTAGAGAAAGTG -3'
(R):5'- TCTGATAGCTGCACGAGACTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation