Incidental Mutation 'R4173:Slc25a45'
| ID |
318225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a45
|
| Ensembl Gene |
ENSMUSG00000024818 |
| Gene Name |
solute carrier family 25, member 45 |
| Synonyms |
|
| MMRRC Submission |
041012-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4173 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 5930611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 99
(Y99*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025732]
[ENSMUST00000125114]
[ENSMUST00000136833]
[ENSMUST00000145200]
[ENSMUST00000155697]
|
| AlphaFold |
Q8CFJ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025732
AA Change: Y99*
|
| SMART Domains |
Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: Y99*
| 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 null
Transcript: ENSMUST00000125114
AA Change: Y99*
|
| SMART Domains |
Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: Y99*
| 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 null
Transcript: ENSMUST00000136833
AA Change: Y113*
|
| SMART Domains |
Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
AA Change: Y113*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
102 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141362
AA Change: H100N
|
| SMART Domains |
Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818
AA Change: H100N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
70 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145200
AA Change: Y41*
|
| SMART Domains |
Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
AA Change: Y41*
| 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 null
Transcript: ENSMUST00000155697
AA Change: Y99*
|
| SMART Domains |
Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: Y99*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
| Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
| Opcml |
C |
T |
9: 28,814,654 (GRCm39) |
T302I |
probably benign |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
| Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,141 (GRCm39) |
N189S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
| Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
| Timd2 |
T |
C |
11: 46,561,787 (GRCm39) |
T286A |
probably benign |
Het |
| Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
| Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
| Txnl4b |
G |
A |
8: 110,295,706 (GRCm39) |
V37I |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,711 (GRCm39) |
F493S |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
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 |
|
|
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 |
|
R8437:Slc25a45
|
UTSW |
19 |
5,930,135 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TGGGAGGAAGTGCTCTACAG -3'
(R):5'- ATGGGAGCAACGTCTACAAG -3'
Sequencing Primer
(F):5'- AGCCCACCATGAGTAACGGTG -3'
(R):5'- GCACCCCTTAGGAAGACCTTCTTATG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation