Incidental Mutation 'R1294:Slc25a20'
| ID |
158023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a20
|
| Ensembl Gene |
ENSMUSG00000032602 |
| Gene Name |
solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 |
| Synonyms |
Cact, mCAC, 1110007P09Rik |
| MMRRC Submission |
039360-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108539335-108561841 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108554838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 128
(M128V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035222]
|
| AlphaFold |
Q9Z2Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035222
AA Change: M128V
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000035222
Gene: ENSMUSG00000032602
AA Change: M128V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
6 |
104 |
4.9e-25 |
PFAM |
|
Pfam:Mito_carr
|
106 |
201 |
5.6e-27 |
PFAM |
|
Pfam:Mito_carr
|
205 |
297 |
7.4e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195260
|
| Meta Mutation Damage Score |
0.1620 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
| Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
| Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
| Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
| Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
| Klk1b3 |
C |
A |
7: 43,849,720 (GRCm39) |
S35Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,655,863 (GRCm39) |
V156A |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,592,015 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
| Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
| Spam1 |
A |
G |
6: 24,796,906 (GRCm39) |
I286V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,381,027 (GRCm39) |
F479Y |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
A |
11: 58,533,953 (GRCm39) |
I169N |
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly damaging |
Het |
|
| Other mutations in Slc25a20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Slc25a20
|
APN |
9 |
108,559,198 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02496:Slc25a20
|
APN |
9 |
108,559,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Slc25a20
|
UTSW |
9 |
108,559,189 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1881:Slc25a20
|
UTSW |
9 |
108,557,408 (GRCm39) |
splice site |
probably null |
|
|
R4936:Slc25a20
|
UTSW |
9 |
108,559,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Slc25a20
|
UTSW |
9 |
108,539,343 (GRCm39) |
start gained |
probably benign |
|
|
R7347:Slc25a20
|
UTSW |
9 |
108,559,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7400:Slc25a20
|
UTSW |
9 |
108,559,172 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7631:Slc25a20
|
UTSW |
9 |
108,539,491 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9139:Slc25a20
|
UTSW |
9 |
108,557,398 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9603:Slc25a20
|
UTSW |
9 |
108,549,675 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTCAGGGATGAGGGGACTTCAA -3'
(R):5'- AGGCATGGCAGAACATACTCATGAC -3'
Sequencing Primer
(F):5'- atctgcctgcctttgcc -3'
(R):5'- tgacccaaaacaacaaaaccc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation