Incidental Mutation 'IGL01631:Slc25a1'
| ID |
93457 |
| 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 # |
IGL01631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17743087-17746083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17743930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 262
(C262Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003622]
|
| AlphaFold |
Q8JZU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003622
AA Change: C262Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: C262Y
| 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 |
unknown
Transcript: ENSMUST00000131507
AA Change: C147Y
|
| SMART Domains |
Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
AA Change: C147Y
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
A |
2: 102,904,194 (GRCm39) |
|
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,069,036 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,847,666 (GRCm39) |
E98D |
probably damaging |
Het |
| Cactin |
A |
G |
10: 81,159,058 (GRCm39) |
E303G |
probably benign |
Het |
| Ccdc181 |
T |
A |
1: 164,107,713 (GRCm39) |
I132K |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,608,472 (GRCm39) |
E756G |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,908,106 (GRCm39) |
L217P |
probably damaging |
Het |
| Dmp1 |
G |
T |
5: 104,360,734 (GRCm39) |
R470L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,438,176 (GRCm39) |
D142G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,661 (GRCm39) |
R84S |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,809,212 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,545,072 (GRCm39) |
S177P |
possibly damaging |
Het |
| Herc6 |
C |
T |
6: 57,581,092 (GRCm39) |
S264F |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,974 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,855,920 (GRCm39) |
|
probably null |
Het |
| Map4 |
A |
G |
9: 109,892,201 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
T |
A |
1: 72,491,690 (GRCm39) |
K194* |
probably null |
Het |
| Megf10 |
A |
G |
18: 57,392,869 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mfsd2a |
C |
A |
4: 122,843,100 (GRCm39) |
A394S |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,573,289 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,161,560 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,129 (GRCm39) |
D189G |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,089,015 (GRCm39) |
H111R |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,088,220 (GRCm39) |
H859Y |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,479,399 (GRCm39) |
E1209D |
probably benign |
Het |
| Rhot1 |
C |
T |
11: 80,156,600 (GRCm39) |
T636M |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,163,342 (GRCm39) |
A19S |
possibly damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,569 (GRCm39) |
S657L |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,101,570 (GRCm39) |
S657T |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,077,714 (GRCm39) |
T450A |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,104,361 (GRCm39) |
S288P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,744 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,495 (GRCm39) |
I228M |
probably damaging |
Het |
| Ssu2 |
T |
C |
6: 112,351,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,199,496 (GRCm39) |
S483P |
probably damaging |
Het |
| Tsga13 |
T |
C |
6: 30,890,501 (GRCm39) |
K8E |
possibly damaging |
Het |
| Zbbx |
T |
G |
3: 74,985,984 (GRCm39) |
D351A |
probably damaging |
Het |
| Zfp454 |
G |
T |
11: 50,774,562 (GRCm39) |
A37D |
probably benign |
Het |
|
| Other mutations in Slc25a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01940:Slc25a1
|
APN |
16 |
17,744,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02076:Slc25a1
|
APN |
16 |
17,745,490 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2013-12-09 |
Incidental Mutation