Incidental Mutation 'IGL03399:Slc25a1'
ID |
421355 |
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 # |
IGL03399
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
17743087-17746083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 17743684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 195
(T195K)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003622]
|
AlphaFold |
Q8JZU2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003622
AA Change: T310K
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000003622 Gene: ENSMUSG00000003528 AA Change: T310K
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 damaging
Transcript: ENSMUST00000131507
AA Change: T195K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123613 Gene: ENSMUSG00000003528 AA Change: T195K
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
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 |
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 |
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 |
2016-08-02 |