Incidental Mutation 'IGL02987:Slc25a54'
| ID |
406777 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a54
|
| Ensembl Gene |
ENSMUSG00000027880 |
| Gene Name |
solute carrier family 25, member 54 |
| Synonyms |
4930443G12Rik, SCaMC-1like |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL02987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109023653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 416
(V416A)
|
| 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: V416A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: V416A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198512
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,757,649 (GRCm39) |
Y422* |
probably null |
Het |
| Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
| Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,811,554 (GRCm39) |
Q103* |
probably null |
Het |
| Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
| F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
G |
9: 76,104,583 (GRCm39) |
V143A |
possibly damaging |
Het |
| Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
| Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
| Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
| Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
| Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
| Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
| Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,539,431 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,109 (GRCm39) |
T164A |
possibly damaging |
Het |
| Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
| Trim42 |
A |
G |
9: 97,247,868 (GRCm39) |
V276A |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation