Incidental Mutation 'IGL02076:Slc25a1'
| ID |
185986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a1
|
| Ensembl Gene |
ENSMUSG00000003528 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 |
| Synonyms |
Slc20a3, Dgsj, 1300019P08Rik, 2610100G11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17743087-17746083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17745490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 41
(C41R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003622]
|
| AlphaFold |
Q8JZU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003622
AA Change: C41R
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: C41R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
21 |
116 |
2.1e-22 |
PFAM |
|
Pfam:Mito_carr
|
118 |
213 |
9.7e-19 |
PFAM |
|
Pfam:Mito_carr
|
216 |
308 |
5.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131507
|
| SMART Domains |
Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
14 |
99 |
1.2e-12 |
PFAM |
|
Pfam:Mito_carr
|
102 |
194 |
5.7e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193194
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,950 (GRCm39) |
K276* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
| Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,009,812 (GRCm39) |
L99P |
probably damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
| Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
| Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,708,370 (GRCm39) |
T229I |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
| Olfm1 |
A |
G |
2: 28,112,637 (GRCm39) |
T223A |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
| Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
| Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
| Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,446 (GRCm39) |
F208L |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,812,367 (GRCm39) |
H31R |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
probably damaging |
Het |
|
| Other mutations in Slc25a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01631:Slc25a1
|
APN |
16 |
17,743,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01940:Slc25a1
|
APN |
16 |
17,744,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02137:Slc25a1
|
APN |
16 |
17,745,234 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03399:Slc25a1
|
APN |
16 |
17,743,684 (GRCm39) |
missense |
probably damaging |
0.97 |
|
powerpack
|
UTSW |
16 |
17,744,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0744:Slc25a1
|
UTSW |
16 |
17,745,300 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0747:Slc25a1
|
UTSW |
16 |
17,744,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0836:Slc25a1
|
UTSW |
16 |
17,745,300 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0850:Slc25a1
|
UTSW |
16 |
17,745,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2290:Slc25a1
|
UTSW |
16 |
17,743,712 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2890:Slc25a1
|
UTSW |
16 |
17,743,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Slc25a1
|
UTSW |
16 |
17,745,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7503:Slc25a1
|
UTSW |
16 |
17,744,303 (GRCm39) |
nonsense |
probably null |
|
|
R7840:Slc25a1
|
UTSW |
16 |
17,744,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8104:Slc25a1
|
UTSW |
16 |
17,744,297 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8408:Slc25a1
|
UTSW |
16 |
17,743,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8987:Slc25a1
|
UTSW |
16 |
17,743,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Slc25a1
|
UTSW |
16 |
17,745,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9145:Slc25a1
|
UTSW |
16 |
17,745,108 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Slc25a1
|
UTSW |
16 |
17,745,070 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2014-05-07 |
Incidental Mutation