Incidental Mutation 'R2372:Slc25a45'
| ID |
248185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a45
|
| Ensembl Gene |
ENSMUSG00000024818 |
| Gene Name |
solute carrier family 25, member 45 |
| Synonyms |
|
| MMRRC Submission |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5927828-5935796 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5934580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 183
(V183I)
|
| 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: V183I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: V183I
| 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: V183I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: V183I
| 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: V125I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
AA Change: V125I
| 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: V183I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: V183I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTCATCAAAGTCCGTC -3'
(R):5'- TGTGATCCAGGAGGCTATGC -3'
Sequencing Primer
(F):5'- GTCCGTCTACAAAACCAGACAGAG -3'
(R):5'- ACCAGAACTGTGGCTGAACCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation