Incidental Mutation 'R5052:Slc25a54'
ID |
394682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a54
|
Ensembl Gene |
ENSMUSG00000027880 |
Gene Name |
solute carrier family 25, member 54 |
Synonyms |
4930443G12Rik, SCaMC-1like |
MMRRC Submission |
042642-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R5052 (G1)
|
Quality Score |
135 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109010016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 172
(I172V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029478]
[ENSMUST00000159926]
|
AlphaFold |
B1AUS6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029478
AA Change: I172V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000029478 Gene: ENSMUSG00000027880 AA Change: I172V
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 benign
Transcript: ENSMUST00000159926
|
SMART Domains |
Protein: ENSMUSP00000124484 Gene: ENSMUSG00000027880
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly damaging |
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 |
|
R3024:Slc25a54
|
UTSW |
3 |
108,987,982 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AACCATTCGAGTATAAGCACTGTGTAC -3'
(R):5'- TGCCAGGCACTTAAAATCAACG -3'
Sequencing Primer
(F):5'- AGCACTGTGTACTAAGTAAATTGTC -3'
(R):5'- CTCTTCAGGAGTGGGCAAG -3'
|
Posted On |
2016-06-15 |