Incidental Mutation 'R6665:Slc25a40'
| ID |
526927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a40
|
| Ensembl Gene |
ENSMUSG00000054099 |
| Gene Name |
solute carrier family 25, member 40 |
| Synonyms |
B230315F11Rik |
| MMRRC Submission |
044785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6665 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8472850-8504797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8502788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 290
(N290S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066921]
[ENSMUST00000170496]
[ENSMUST00000196727]
|
| AlphaFold |
Q8BGP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066921
AA Change: N290S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: N290S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
137 |
1.5e-24 |
PFAM |
|
Pfam:Mito_carr
|
139 |
229 |
4.6e-20 |
PFAM |
|
Pfam:Mito_carr
|
232 |
333 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170496
AA Change: N290S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: N290S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
137 |
5.8e-24 |
PFAM |
|
Pfam:Mito_carr
|
141 |
229 |
1.4e-17 |
PFAM |
|
Pfam:Mito_carr
|
232 |
333 |
2.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196727
|
| SMART Domains |
Protein: ENSMUSP00000142511
Gene: ENSMUSG00000054099
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
80 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198119
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and overtly normal in a battery of physiological, metabolic, and behavioral assays. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,815,775 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
G |
13: 70,927,689 (GRCm39) |
K517Q |
probably damaging |
Het |
| Atp9b |
A |
C |
18: 80,960,950 (GRCm39) |
V87G |
probably benign |
Het |
| Avil |
A |
G |
10: 126,856,394 (GRCm39) |
K808E |
probably damaging |
Het |
| Bin2 |
T |
C |
15: 100,554,676 (GRCm39) |
E49G |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,092 (GRCm39) |
Y652C |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,768,367 (GRCm39) |
N541D |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,062,277 (GRCm39) |
V671A |
probably benign |
Het |
| Dock6 |
C |
T |
9: 21,751,208 (GRCm39) |
C355Y |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,183,205 (GRCm39) |
F71S |
probably damaging |
Het |
| Dusp8 |
G |
A |
7: 141,643,842 (GRCm39) |
P24S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,107,098 (GRCm39) |
Y1151C |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,823,078 (GRCm39) |
L659Q |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,077 (GRCm39) |
Y810C |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,315,893 (GRCm39) |
N380D |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,592 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Lrif1 |
T |
A |
3: 106,642,659 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
T |
9: 59,779,155 (GRCm39) |
G1637V |
probably benign |
Het |
| Myod1 |
A |
T |
7: 46,026,281 (GRCm39) |
H62L |
probably damaging |
Het |
| Myoz3 |
A |
C |
18: 60,709,495 (GRCm39) |
L222R |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,884,227 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,116 (GRCm39) |
F111S |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,955,702 (GRCm39) |
V405A |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,603,914 (GRCm39) |
|
probably null |
Het |
| Rab32 |
T |
C |
10: 10,433,846 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
A |
C |
1: 107,474,597 (GRCm39) |
N253T |
possibly damaging |
Het |
| Slc13a5 |
C |
T |
11: 72,151,186 (GRCm39) |
V131I |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,703,020 (GRCm39) |
V131A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,600,604 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
G |
8: 3,691,998 (GRCm39) |
M547V |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,998 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,900 (GRCm39) |
I702V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,636 (GRCm39) |
S436P |
probably benign |
Het |
|
| Other mutations in Slc25a40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Slc25a40
|
APN |
5 |
8,503,298 (GRCm39) |
makesense |
probably null |
|
|
IGL01418:Slc25a40
|
APN |
5 |
8,503,298 (GRCm39) |
makesense |
probably null |
|
|
IGL02604:Slc25a40
|
APN |
5 |
8,503,219 (GRCm39) |
missense |
probably benign |
|
|
IGL03371:Slc25a40
|
APN |
5 |
8,477,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4494001:Slc25a40
|
UTSW |
5 |
8,490,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Slc25a40
|
UTSW |
5 |
8,497,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1051:Slc25a40
|
UTSW |
5 |
8,480,450 (GRCm39) |
missense |
probably benign |
|
|
R1707:Slc25a40
|
UTSW |
5 |
8,490,793 (GRCm39) |
splice site |
probably null |
|
|
R1861:Slc25a40
|
UTSW |
5 |
8,492,431 (GRCm39) |
splice site |
probably null |
|
|
R2117:Slc25a40
|
UTSW |
5 |
8,480,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Slc25a40
|
UTSW |
5 |
8,477,489 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2567:Slc25a40
|
UTSW |
5 |
8,480,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Slc25a40
|
UTSW |
5 |
8,477,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Slc25a40
|
UTSW |
5 |
8,480,486 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5269:Slc25a40
|
UTSW |
5 |
8,497,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7884:Slc25a40
|
UTSW |
5 |
8,492,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Slc25a40
|
UTSW |
5 |
8,493,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Slc25a40
|
UTSW |
5 |
8,499,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACTGTAAGCAAGCCCC -3'
(R):5'- TAGGTCAAACTGTTCACTCTCAAC -3'
Sequencing Primer
(F):5'- TAAGCAAGCCCCCAGTTAGGTG -3'
(R):5'- CACATTTGCTGGAAGCTA -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation