Incidental Mutation 'R4222:Slc25a45'
| ID |
319426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a45
|
| Ensembl Gene |
ENSMUSG00000024818 |
| Gene Name |
solute carrier family 25, member 45 |
| Synonyms |
|
| MMRRC Submission |
041042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5930146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 39
(I39F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121596
(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 damaging
Transcript: ENSMUST00000025732
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: I39F
| 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 damaging
Transcript: ENSMUST00000125114
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: I39F
| 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 damaging
Transcript: ENSMUST00000136833
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
AA Change: I39F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
102 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141362
AA Change: I38F
|
| SMART Domains |
Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818
AA Change: I38F
| 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 damaging
Transcript: ENSMUST00000155697
AA Change: I39F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: I39F
| 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 |
0.2545 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
91% (49/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,092,121 (GRCm39) |
Y127C |
probably damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Alkal1 |
A |
G |
1: 6,458,839 (GRCm39) |
K76R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,391,969 (GRCm39) |
S1807G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Brd10 |
A |
T |
19: 29,696,149 (GRCm39) |
S1115T |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,276 (GRCm39) |
Y368N |
probably damaging |
Het |
| Gar1 |
A |
T |
3: 129,624,455 (GRCm39) |
|
probably benign |
Het |
| Gm5265 |
A |
T |
1: 169,281,370 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,147 (GRCm39) |
|
probably benign |
Het |
| Hapln4 |
T |
A |
8: 70,539,610 (GRCm39) |
W214R |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,372,010 (GRCm39) |
Y200C |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,233,050 (GRCm39) |
A297D |
possibly damaging |
Het |
| Kri1 |
T |
C |
9: 21,192,359 (GRCm39) |
E145G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,693 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,722,436 (GRCm39) |
Q1163L |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Nrxn3 |
G |
T |
12: 89,499,762 (GRCm39) |
G718* |
probably null |
Het |
| Olfm3 |
C |
T |
3: 114,883,820 (GRCm39) |
Q41* |
probably null |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or8u8 |
G |
T |
2: 86,012,341 (GRCm39) |
T38K |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,741,726 (GRCm39) |
M31I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,499,627 (GRCm39) |
L950* |
probably null |
Het |
| Plec |
C |
T |
15: 76,061,519 (GRCm39) |
R2671H |
probably damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,885,389 (GRCm39) |
M679K |
probably benign |
Het |
| Ptx3 |
C |
T |
3: 66,132,127 (GRCm39) |
T216I |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,229 (GRCm39) |
I346V |
possibly damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,900 (GRCm39) |
K17E |
unknown |
Het |
| Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,888,061 (GRCm39) |
E10G |
probably benign |
Het |
| Spag5 |
G |
A |
11: 78,195,337 (GRCm39) |
V215I |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,199 (GRCm39) |
Y535C |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,650,452 (GRCm39) |
S395T |
probably benign |
Het |
| Tlr11 |
C |
T |
14: 50,599,306 (GRCm39) |
P431S |
probably damaging |
Het |
| Trerf1 |
G |
T |
17: 47,625,727 (GRCm39) |
|
noncoding transcript |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,228 (GRCm39) |
F258S |
probably benign |
Het |
| Vmn1r-ps103 |
C |
A |
13: 22,626,198 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,993,855 (GRCm39) |
|
probably null |
Het |
| Zfp35 |
T |
G |
18: 24,136,246 (GRCm39) |
F197V |
possibly 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 |
|
|
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'- GTGAGTGTAGCAAAGGCACC -3'
(R):5'- ACCCCGTCACCACTTTTGAG -3'
Sequencing Primer
(F):5'- ATAGATGGTCTGGCTGGAACC -3'
(R):5'- CACTTTTGAGGCACTAGAGGACTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation