Incidental Mutation 'R8437:Slc25a45'
| ID |
654072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a45
|
| Ensembl Gene |
ENSMUSG00000024818 |
| Gene Name |
solute carrier family 25, member 45 |
| Synonyms |
|
| MMRRC Submission |
067901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5930135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 35
(T35M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025728]
[ENSMUST00000025732]
[ENSMUST00000125114]
[ENSMUST00000136833]
[ENSMUST00000145200]
[ENSMUST00000155227]
[ENSMUST00000155697]
|
| AlphaFold |
Q8CFJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025728
|
| SMART Domains |
Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
26 |
273 |
9.58e-4 |
SMART |
|
low complexity region
|
383 |
398 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025732
AA Change: T35M
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: T35M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
87 |
1.2e-20 |
PFAM |
|
Pfam:Mito_carr
|
95 |
195 |
6.9e-22 |
PFAM |
|
Pfam:Mito_carr
|
197 |
288 |
7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125114
AA Change: T35M
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: T35M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
87 |
4.7e-22 |
PFAM |
|
Pfam:Mito_carr
|
95 |
195 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136833
AA Change: T35M
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
AA Change: T35M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
102 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818
AA Change: T34M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
70 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145200
|
| SMART Domains |
Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
37 |
137 |
5.1e-23 |
PFAM |
|
Pfam:Mito_carr
|
139 |
195 |
4.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155227
|
| SMART Domains |
Protein: ENSMUSP00000116453
Gene: ENSMUSG00000024816
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
|
Pfam:FERM_M
|
136 |
202 |
9.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155697
AA Change: T35M
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: T35M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
87 |
8.9e-22 |
PFAM |
|
Pfam:Mito_carr
|
95 |
195 |
6.8e-23 |
PFAM |
|
Pfam:Mito_carr
|
197 |
288 |
2.4e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 78,998,178 (GRCm39) |
Y237H |
probably damaging |
Het |
| Adprh |
T |
C |
16: 38,266,449 (GRCm39) |
E231G |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,030,705 (GRCm39) |
S631G |
probably benign |
Het |
| Bpifa5 |
T |
A |
2: 154,007,526 (GRCm39) |
L156H |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,644,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,551,956 (GRCm39) |
G508S |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,710,822 (GRCm39) |
T794A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 95,987,899 (GRCm39) |
C497Y |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,888,602 (GRCm39) |
I168T |
possibly damaging |
Het |
| Dtna |
C |
T |
18: 23,723,398 (GRCm39) |
Q201* |
probably null |
Het |
| Fetub |
T |
C |
16: 22,752,985 (GRCm39) |
S146P |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,757,272 (GRCm39) |
E242D |
probably benign |
Het |
| Gfpt2 |
T |
A |
11: 49,695,694 (GRCm39) |
|
probably benign |
Het |
| Ginm1 |
C |
T |
10: 7,646,130 (GRCm39) |
C290Y |
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,296,006 (GRCm39) |
S386P |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hnrnpa3 |
T |
G |
2: 75,493,019 (GRCm39) |
S220A |
unknown |
Het |
| Hydin |
A |
G |
8: 111,189,367 (GRCm39) |
E1257G |
probably damaging |
Het |
| Ier3ip1 |
C |
T |
18: 77,017,874 (GRCm39) |
A18V |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,651 (GRCm39) |
C1361S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,301,351 (GRCm39) |
Q955R |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,326,277 (GRCm39) |
M1349R |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,903,602 (GRCm39) |
V316I |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,482,695 (GRCm39) |
I501T |
possibly damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,167 (GRCm39) |
S180R |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,569,220 (GRCm39) |
V1100I |
unknown |
Het |
| Nbas |
T |
C |
12: 13,616,251 (GRCm39) |
V2263A |
possibly damaging |
Het |
| Or6b2 |
C |
T |
1: 92,408,187 (GRCm39) |
S52N |
probably benign |
Het |
| Or7g33 |
C |
T |
9: 19,448,833 (GRCm39) |
R131H |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,114,109 (GRCm39) |
I130L |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,328,375 (GRCm39) |
T640A |
probably damaging |
Het |
| Pole2 |
G |
C |
12: 69,250,961 (GRCm39) |
Y467* |
probably null |
Het |
| Pxdn |
C |
T |
12: 30,052,043 (GRCm39) |
T740M |
probably damaging |
Het |
| Rabac1 |
T |
C |
7: 24,671,672 (GRCm39) |
I83V |
probably damaging |
Het |
| Rrp7a |
T |
C |
15: 83,001,773 (GRCm39) |
Q245R |
probably damaging |
Het |
| Sae1 |
A |
G |
7: 16,104,279 (GRCm39) |
V110A |
probably damaging |
Het |
| Sema3c |
G |
T |
5: 17,867,936 (GRCm39) |
V116F |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,231,963 (GRCm39) |
Y200C |
probably damaging |
Het |
| Speer4b |
C |
T |
5: 27,703,818 (GRCm39) |
R107Q |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,006,651 (GRCm39) |
T843A |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,243,856 (GRCm39) |
I2004F |
probably damaging |
Het |
| Tma16 |
T |
C |
8: 66,929,448 (GRCm39) |
D182G |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,610,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,830,800 (GRCm39) |
T19A |
probably damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,753 (GRCm39) |
G80S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,798,332 (GRCm39) |
C2025R |
|
Het |
| Zyg11a |
T |
A |
4: 108,075,103 (GRCm39) |
H6L |
probably damaging |
Het |
|
| Other mutations in Slc25a45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02523:Slc25a45
|
APN |
19 |
5,934,637 (GRCm39) |
splice site |
probably null |
|
|
IGL02620:Slc25a45
|
APN |
19 |
5,934,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Slc25a45
|
APN |
19 |
5,928,725 (GRCm39) |
splice site |
probably benign |
|
|
R0055:Slc25a45
|
UTSW |
19 |
5,930,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Slc25a45
|
UTSW |
19 |
5,930,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Slc25a45
|
UTSW |
19 |
5,930,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Slc25a45
|
UTSW |
19 |
5,929,928 (GRCm39) |
splice site |
probably benign |
|
|
R1764:Slc25a45
|
UTSW |
19 |
5,934,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Slc25a45
|
UTSW |
19 |
5,934,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2372:Slc25a45
|
UTSW |
19 |
5,934,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3547:Slc25a45
|
UTSW |
19 |
5,934,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Slc25a45
|
UTSW |
19 |
5,930,661 (GRCm39) |
splice site |
probably benign |
|
|
R4173:Slc25a45
|
UTSW |
19 |
5,930,611 (GRCm39) |
nonsense |
probably null |
|
|
R4222:Slc25a45
|
UTSW |
19 |
5,930,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Slc25a45
|
UTSW |
19 |
5,930,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4225:Slc25a45
|
UTSW |
19 |
5,930,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4598:Slc25a45
|
UTSW |
19 |
5,934,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Slc25a45
|
UTSW |
19 |
5,934,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Slc25a45
|
UTSW |
19 |
5,934,490 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5711:Slc25a45
|
UTSW |
19 |
5,934,451 (GRCm39) |
missense |
probably benign |
|
|
R6693:Slc25a45
|
UTSW |
19 |
5,930,162 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7486:Slc25a45
|
UTSW |
19 |
5,934,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9415:Slc25a45
|
UTSW |
19 |
5,934,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc25a45
|
UTSW |
19 |
5,934,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Slc25a45
|
UTSW |
19 |
5,930,207 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGTGTAGCAAAGGCACC -3'
(R):5'- GTCACCACTTTTGAGGCACTAG -3'
Sequencing Primer
(F):5'- ATAGATGGTCTGGCTGGAACC -3'
(R):5'- CACTTTTGAGGCACTAGAGGACTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation