Incidental Mutation 'R3941:Slc25a54'
| ID |
307437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a54
|
| Ensembl Gene |
ENSMUSG00000027880 |
| Gene Name |
solute carrier family 25, member 54 |
| Synonyms |
4930443G12Rik, SCaMC-1like |
| MMRRC Submission |
040923-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R3941 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109019479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 361
(D361V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029478]
[ENSMUST00000159926]
|
| AlphaFold |
B1AUS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029478
AA Change: D361V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: D361V
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,214,263 (GRCm39) |
T193S |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,242 (GRCm39) |
L435Q |
probably damaging |
Het |
| Bin1 |
T |
C |
18: 32,539,211 (GRCm39) |
V48A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,643,434 (GRCm39) |
R338S |
probably benign |
Het |
| Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,455 (GRCm39) |
T404A |
probably benign |
Het |
| Cd2ap |
G |
C |
17: 43,119,690 (GRCm39) |
H488D |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,467 (GRCm39) |
T498A |
probably benign |
Het |
| Cngb3 |
A |
G |
4: 19,396,786 (GRCm39) |
N380D |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,817,033 (GRCm39) |
S426F |
unknown |
Het |
| Cr2 |
A |
T |
1: 194,848,122 (GRCm39) |
H345Q |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,452 (GRCm39) |
K743M |
probably benign |
Het |
| Depdc1b |
T |
C |
13: 108,505,370 (GRCm39) |
S245P |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,124,825 (GRCm39) |
H2016Y |
probably benign |
Het |
| Eif2s3y |
G |
T |
Y: 1,012,079 (GRCm39) |
R98L |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,753,167 (GRCm39) |
G915S |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,193,349 (GRCm39) |
L216P |
probably benign |
Het |
| Fpr-rs3 |
T |
C |
17: 20,845,111 (GRCm39) |
N10S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,253,864 (GRCm39) |
N194D |
probably damaging |
Het |
| Hey1 |
A |
G |
3: 8,729,638 (GRCm39) |
L273P |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,850,857 (GRCm39) |
K365E |
probably benign |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,389,265 (GRCm39) |
A3217V |
probably damaging |
Het |
| Mei4 |
C |
T |
9: 81,809,336 (GRCm39) |
R140C |
probably benign |
Het |
| Mir100hg |
T |
C |
9: 41,501,570 (GRCm39) |
L143P |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,688,175 (GRCm39) |
K278M |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,622,328 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
C |
6: 122,040,522 (GRCm39) |
G691R |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Nipal4 |
C |
T |
11: 46,041,473 (GRCm39) |
V241M |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Pcdh1 |
A |
G |
18: 38,332,511 (GRCm39) |
V164A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,641,037 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,620,133 (GRCm39) |
E623G |
probably damaging |
Het |
| Psors1c2 |
G |
T |
17: 35,844,825 (GRCm39) |
G29* |
probably null |
Het |
| Slc39a12 |
A |
T |
2: 14,400,992 (GRCm39) |
H123L |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,900,764 (GRCm39) |
|
probably null |
Het |
| Strn |
A |
T |
17: 78,965,369 (GRCm39) |
I641N |
probably damaging |
Het |
| Tapbp |
A |
G |
17: 34,139,457 (GRCm39) |
E151G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,445 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,901 (GRCm39) |
C171Y |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,587,329 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,682 (GRCm39) |
Y167H |
probably damaging |
Het |
| Washc1 |
T |
C |
17: 66,425,123 (GRCm39) |
S376P |
probably damaging |
Het |
| Wnt10a |
T |
A |
1: 74,842,656 (GRCm39) |
|
probably null |
Het |
| Xrcc4 |
A |
G |
13: 90,219,752 (GRCm39) |
V16A |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,767,799 (GRCm39) |
V770A |
probably benign |
Het |
| Zfp410 |
A |
G |
12: 84,385,527 (GRCm39) |
N90S |
probably 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 |
|
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'- CAGACTTAGATTGGAACCTGAGTTAG -3'
(R):5'- TGTCTATCATAGCCAAGAACTGAG -3'
Sequencing Primer
(F):5'- TATGTTTTTATTGCATCCTTTCACAC -3'
(R):5'- GCTATACCATGCAAAGCCA -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation