Incidental Mutation 'IGL02523:Slc25a45'
ID |
296969 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc25a45
|
Ensembl Gene |
ENSMUSG00000024818 |
Gene Name |
solute carrier family 25, member 45 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL02523
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 5934637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000025732 Gene: ENSMUSG00000024818
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: W202R
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000122076 Gene: ENSMUSG00000024818 AA Change: W202R
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 null
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 null
Transcript: ENSMUST00000155697
|
SMART Domains |
Protein: ENSMUSP00000121596 Gene: ENSMUSG00000024818
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
Eya2 |
C |
T |
2: 165,596,356 (GRCm39) |
|
probably benign |
Het |
Fars2 |
G |
T |
13: 36,388,676 (GRCm39) |
G55V |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,459,109 (GRCm39) |
S301P |
probably benign |
Het |
Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,683 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,166,086 (GRCm39) |
E366G |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
Tlk2 |
A |
G |
11: 105,166,773 (GRCm39) |
K593R |
probably damaging |
Het |
Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
probably benign |
Het |
|
Other mutations in Slc25a45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2015-04-16 |