Incidental Mutation 'R3024:Slc25a54'
ID |
265772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a54
|
Ensembl Gene |
ENSMUSG00000027880 |
Gene Name |
solute carrier family 25, member 54 |
Synonyms |
4930443G12Rik, SCaMC-1like |
MMRRC Submission |
040540-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R3024 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108987982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 41
(I41N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029478]
[ENSMUST00000159926]
|
AlphaFold |
B1AUS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029478
AA Change: I41N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029478 Gene: ENSMUSG00000027880 AA Change: I41N
Domain | Start | End | E-Value | Type |
EFh
|
23 |
51 |
4.28e0 |
SMART |
EFh
|
59 |
87 |
3.82e0 |
SMART |
EFh
|
90 |
118 |
4.12e-3 |
SMART |
EFh
|
126 |
154 |
3.44e1 |
SMART |
Pfam:Mito_carr
|
191 |
283 |
3.7e-25 |
PFAM |
Pfam:Mito_carr
|
284 |
376 |
7.2e-24 |
PFAM |
Pfam:Mito_carr
|
383 |
472 |
2.6e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159926
AA Change: I41N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124484 Gene: ENSMUSG00000027880 AA Change: I41N
Domain | Start | End | E-Value | Type |
Blast:EFh
|
1 |
21 |
6e-9 |
BLAST |
Pfam:Mito_carr
|
57 |
150 |
3.2e-26 |
PFAM |
Pfam:Mito_carr
|
151 |
243 |
3.6e-25 |
PFAM |
Pfam:Mito_carr
|
249 |
339 |
1.5e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195936
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
Other mutations in Slc25a54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Slc25a54
|
APN |
3 |
109,020,176 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02635:Slc25a54
|
APN |
3 |
109,020,133 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02944:Slc25a54
|
APN |
3 |
108,987,931 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02987:Slc25a54
|
APN |
3 |
109,023,653 (GRCm39) |
missense |
probably benign |
|
IGL03346:Slc25a54
|
APN |
3 |
108,993,046 (GRCm39) |
intron |
probably benign |
|
R0491:Slc25a54
|
UTSW |
3 |
109,010,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0520:Slc25a54
|
UTSW |
3 |
109,014,546 (GRCm39) |
splice site |
probably benign |
|
R0645:Slc25a54
|
UTSW |
3 |
109,019,481 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1803:Slc25a54
|
UTSW |
3 |
109,010,013 (GRCm39) |
missense |
probably benign |
|
R1869:Slc25a54
|
UTSW |
3 |
108,987,932 (GRCm39) |
nonsense |
probably null |
|
R1870:Slc25a54
|
UTSW |
3 |
108,987,932 (GRCm39) |
nonsense |
probably null |
|
R3763:Slc25a54
|
UTSW |
3 |
109,019,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Slc25a54
|
UTSW |
3 |
109,023,820 (GRCm39) |
missense |
probably benign |
0.03 |
R3941:Slc25a54
|
UTSW |
3 |
109,019,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R4346:Slc25a54
|
UTSW |
3 |
109,010,055 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4347:Slc25a54
|
UTSW |
3 |
109,010,055 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4445:Slc25a54
|
UTSW |
3 |
109,005,984 (GRCm39) |
missense |
probably benign |
0.00 |
R4735:Slc25a54
|
UTSW |
3 |
109,005,923 (GRCm39) |
missense |
probably damaging |
0.96 |
R4914:Slc25a54
|
UTSW |
3 |
109,018,395 (GRCm39) |
missense |
probably benign |
0.34 |
R4960:Slc25a54
|
UTSW |
3 |
109,020,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5052:Slc25a54
|
UTSW |
3 |
109,010,016 (GRCm39) |
missense |
probably benign |
0.03 |
R5106:Slc25a54
|
UTSW |
3 |
109,020,180 (GRCm39) |
missense |
probably benign |
0.02 |
R5806:Slc25a54
|
UTSW |
3 |
108,987,894 (GRCm39) |
missense |
probably benign |
|
R5936:Slc25a54
|
UTSW |
3 |
109,005,954 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6511:Slc25a54
|
UTSW |
3 |
109,001,572 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6532:Slc25a54
|
UTSW |
3 |
109,019,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Slc25a54
|
UTSW |
3 |
109,020,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7139:Slc25a54
|
UTSW |
3 |
109,005,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Slc25a54
|
UTSW |
3 |
109,014,573 (GRCm39) |
missense |
probably benign |
0.00 |
R7282:Slc25a54
|
UTSW |
3 |
109,023,817 (GRCm39) |
nonsense |
probably null |
|
R7336:Slc25a54
|
UTSW |
3 |
109,023,751 (GRCm39) |
missense |
probably benign |
0.00 |
R7355:Slc25a54
|
UTSW |
3 |
109,010,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R7713:Slc25a54
|
UTSW |
3 |
109,010,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R8061:Slc25a54
|
UTSW |
3 |
109,018,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Slc25a54
|
UTSW |
3 |
109,006,005 (GRCm39) |
critical splice donor site |
probably null |
|
R9095:Slc25a54
|
UTSW |
3 |
109,019,404 (GRCm39) |
missense |
probably benign |
0.09 |
R9156:Slc25a54
|
UTSW |
3 |
109,001,548 (GRCm39) |
missense |
probably benign |
0.03 |
R9568:Slc25a54
|
UTSW |
3 |
109,005,932 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Slc25a54
|
UTSW |
3 |
109,019,434 (GRCm39) |
frame shift |
probably null |
|
Z1177:Slc25a54
|
UTSW |
3 |
109,010,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGTGCTACGGTCTTCAGGG -3'
(R):5'- AGCAACACATTTCACTGGGTTATG -3'
Sequencing Primer
(F):5'- CTACGGTCTTCAGGGGTCGTG -3'
(R):5'- ATTTCACACCTACTCCAAAAGCTCTG -3'
|
Posted On |
2015-02-05 |