Incidental Mutation 'R5711:Slc25a45'
| ID |
452242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a45
|
| Ensembl Gene |
ENSMUSG00000024818 |
| Gene Name |
solute carrier family 25, member 45 |
| Synonyms |
|
| MMRRC Submission |
043185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5934451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 140
(S140P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025732]
[ENSMUST00000125114]
[ENSMUST00000136833]
[ENSMUST00000145200]
[ENSMUST00000155697]
|
| AlphaFold |
Q8CFJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025732
AA Change: S140P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: S140P
| 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: S140P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: S140P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
102 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141362
|
| SMART Domains |
Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
70 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145200
AA Change: S82P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
AA Change: S82P
| 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: ENSMUST00000155697
AA Change: S140P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: S140P
| 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: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
| Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
| Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
| Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
| Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
| Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
| Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
| Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
| Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
| Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
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 |
|
|
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 |
|
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'- TGTTCTCAACTGCACCCAG -3'
(R):5'- ACTGGGATTCTGGCCTTCTG -3'
Sequencing Primer
(F):5'- ACTGCACCCAGACAGTTGG -3'
(R):5'- GGTGTGTACTGGCGACATAGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation