Incidental Mutation 'R0892:Slc25a42'
| ID |
83536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a42
|
| Ensembl Gene |
ENSMUSG00000002346 |
| Gene Name |
solute carrier family 25, member 42 |
| Synonyms |
2900084M01Rik |
| MMRRC Submission |
039055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70636990-70664931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70644597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 34
(L34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063788]
[ENSMUST00000110127]
|
| AlphaFold |
Q8R0Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063788
AA Change: L34P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
AA Change: L34P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
29 |
122 |
3.4e-23 |
PFAM |
|
Pfam:Mito_carr
|
127 |
219 |
1.4e-26 |
PFAM |
|
Pfam:Mito_carr
|
222 |
316 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110127
AA Change: L34P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
AA Change: L34P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
29 |
122 |
1.6e-23 |
PFAM |
|
Pfam:Mito_carr
|
127 |
219 |
7.2e-27 |
PFAM |
|
Pfam:Mito_carr
|
222 |
317 |
3.3e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150706
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,305 (GRCm39) |
V2684E |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,597,800 (GRCm39) |
R57G |
probably benign |
Het |
| Bcr |
C |
T |
10: 74,960,895 (GRCm39) |
A442V |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,764,920 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dmkn |
C |
T |
7: 30,466,829 (GRCm39) |
R114C |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,911,758 (GRCm39) |
N348I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,011,843 (GRCm39) |
I830N |
possibly damaging |
Het |
| Gm15737 |
C |
T |
6: 92,856,721 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,985,211 (GRCm39) |
N182S |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,688,206 (GRCm39) |
I297N |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,376,585 (GRCm39) |
K56E |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,208,000 (GRCm39) |
H96Y |
possibly damaging |
Het |
| Mapre2 |
A |
G |
18: 23,991,200 (GRCm39) |
N189S |
probably benign |
Het |
| Msmo1 |
T |
A |
8: 65,175,587 (GRCm39) |
I148F |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,184,511 (GRCm39) |
T1607A |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,923,069 (GRCm39) |
T445S |
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,562,881 (GRCm39) |
V28D |
probably damaging |
Het |
| Plag1 |
G |
A |
4: 3,904,532 (GRCm39) |
Q220* |
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,166,644 (GRCm39) |
E305G |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,429,033 (GRCm39) |
|
probably null |
Het |
| Sbsn |
A |
T |
7: 30,454,244 (GRCm39) |
Q50L |
possibly damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,092,201 (GRCm39) |
R521S |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,011,724 (GRCm39) |
V394E |
probably benign |
Het |
| Tatdn3 |
T |
C |
1: 190,795,002 (GRCm39) |
D18G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,964,665 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc25a42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Slc25a42
|
APN |
8 |
70,642,092 (GRCm39) |
missense |
probably benign |
|
|
IGL01651:Slc25a42
|
APN |
8 |
70,639,250 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1990:Slc25a42
|
UTSW |
8 |
70,644,519 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4567:Slc25a42
|
UTSW |
8 |
70,641,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4717:Slc25a42
|
UTSW |
8 |
70,642,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Slc25a42
|
UTSW |
8 |
70,641,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Slc25a42
|
UTSW |
8 |
70,641,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7011:Slc25a42
|
UTSW |
8 |
70,639,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Slc25a42
|
UTSW |
8 |
70,642,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8901:Slc25a42
|
UTSW |
8 |
70,646,799 (GRCm39) |
missense |
probably benign |
|
|
R9234:Slc25a42
|
UTSW |
8 |
70,642,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATTCCTGGCAGTCTCCTGTG -3'
(R):5'- AGGGGAAATGATGGTTACATGCCTG -3'
Sequencing Primer
(F):5'- ggctgaggcaggaagac -3'
(R):5'- cccaaaacaaacaaacaaacaaac -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation