Incidental Mutation 'R0850:Slc25a1'
ID |
82531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a1
|
Ensembl Gene |
ENSMUSG00000003528 |
Gene Name |
solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 |
Synonyms |
Slc20a3, Dgsj, 1300019P08Rik, 2610100G11Rik |
MMRRC Submission |
039029-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0850 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
17743087-17746083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17745145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 105
(F105Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003622]
|
AlphaFold |
Q8JZU2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003622
AA Change: F105Y
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000003622 Gene: ENSMUSG00000003528 AA Change: F105Y
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: S21T
|
SMART Domains |
Protein: ENSMUSP00000123613 Gene: ENSMUSG00000003528 AA Change: S21T
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 |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Aadacl2fm2 |
T |
G |
3: 59,659,669 (GRCm39) |
I374R |
possibly damaging |
Het |
Agbl3 |
T |
A |
6: 34,776,139 (GRCm39) |
F210Y |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,802,444 (GRCm39) |
V418A |
possibly damaging |
Het |
Dmp1 |
A |
T |
5: 104,360,653 (GRCm39) |
D443V |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,467,993 (GRCm39) |
N220K |
probably damaging |
Het |
Elavl3 |
T |
G |
9: 21,948,059 (GRCm39) |
D35A |
probably damaging |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Fbxw25 |
T |
C |
9: 109,478,685 (GRCm39) |
K425R |
probably benign |
Het |
Gypa |
A |
G |
8: 81,222,974 (GRCm39) |
H26R |
unknown |
Het |
H2-DMb1 |
T |
C |
17: 34,374,536 (GRCm39) |
V62A |
probably benign |
Het |
Helb |
T |
C |
10: 119,941,272 (GRCm39) |
H472R |
probably damaging |
Het |
Herc1 |
T |
G |
9: 66,373,952 (GRCm39) |
V3197G |
probably damaging |
Het |
Herc2 |
C |
A |
7: 55,854,231 (GRCm39) |
N3712K |
probably benign |
Het |
Herc6 |
T |
C |
6: 57,560,227 (GRCm39) |
V89A |
possibly damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,599 (GRCm39) |
T213A |
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,855 (GRCm39) |
S381P |
probably damaging |
Het |
Kif19a |
C |
A |
11: 114,671,613 (GRCm39) |
P164Q |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,368,195 (GRCm39) |
S2189P |
probably benign |
Het |
Mpo |
A |
G |
11: 87,688,328 (GRCm39) |
N329S |
probably damaging |
Het |
Mrps15 |
A |
G |
4: 125,942,479 (GRCm39) |
Y76C |
probably damaging |
Het |
Or51a42 |
T |
A |
7: 103,708,252 (GRCm39) |
M186L |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,593 (GRCm39) |
V280A |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,858,773 (GRCm39) |
R1506G |
possibly damaging |
Het |
Ptprb |
A |
T |
10: 116,138,030 (GRCm39) |
Q311H |
possibly damaging |
Het |
Ptprb |
T |
C |
10: 116,175,415 (GRCm39) |
Y1137H |
probably damaging |
Het |
Scaf8 |
A |
G |
17: 3,246,049 (GRCm39) |
|
probably null |
Het |
Slc29a4 |
T |
C |
5: 142,704,327 (GRCm39) |
V327A |
probably benign |
Het |
Spmip3 |
A |
G |
1: 177,568,571 (GRCm39) |
T23A |
probably benign |
Het |
Tmed10 |
A |
G |
12: 85,390,279 (GRCm39) |
F195L |
probably benign |
Het |
Tmem45a2 |
T |
A |
16: 56,865,732 (GRCm39) |
I151F |
probably benign |
Het |
Vmn2r93 |
C |
A |
17: 18,525,279 (GRCm39) |
F312L |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,026,663 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTACCCCTGAAAGGCTCAATC -3'
(R):5'- CTTCCCGACCGAATACGTGAAGAC -3'
Sequencing Primer
(F):5'- AAGGCTCAATCCCTCACCTTG -3'
(R):5'- TACCGGGGCATCGGTAAG -3'
|
Posted On |
2013-11-08 |