Incidental Mutation 'IGL03408:Slc25a32'
| ID |
421658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a32
|
| Ensembl Gene |
ENSMUSG00000022299 |
| Gene Name |
solute carrier family 25, member 32 |
| Synonyms |
2610043O12Rik, Mftc |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
IGL03408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
38954626-38976111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38963425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 132
(A132V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022908]
[ENSMUST00000227323]
[ENSMUST00000228160]
|
| AlphaFold |
Q8BMG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022908
AA Change: A132V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: A132V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:Mito_carr
|
20 |
113 |
4.5e-24 |
PFAM |
|
Pfam:Mito_carr
|
116 |
214 |
1e-24 |
PFAM |
|
Pfam:Mito_carr
|
220 |
311 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227323
AA Change: A132V
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228160
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
| Ccdc85a |
T |
A |
11: 28,526,528 (GRCm39) |
H360L |
probably damaging |
Het |
| Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,445,949 (GRCm39) |
R162S |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,387,541 (GRCm39) |
R133* |
probably null |
Het |
| Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
| Idh3a |
A |
G |
9: 54,504,206 (GRCm39) |
N189D |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
| Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
| Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
| Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
| Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
| Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,460,913 (GRCm39) |
N183S |
probably damaging |
Het |
| Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
| Wfdc2 |
T |
A |
2: 164,405,283 (GRCm39) |
C61* |
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
Het |
|
| Other mutations in Slc25a32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Slc25a32
|
APN |
15 |
38,965,466 (GRCm39) |
intron |
probably benign |
|
|
IGL01987:Slc25a32
|
APN |
15 |
38,961,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02719:Slc25a32
|
APN |
15 |
38,963,300 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03387:Slc25a32
|
APN |
15 |
38,969,359 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0103:Slc25a32
|
UTSW |
15 |
38,963,292 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Slc25a32
|
UTSW |
15 |
38,963,292 (GRCm39) |
nonsense |
probably null |
|
|
R0511:Slc25a32
|
UTSW |
15 |
38,960,940 (GRCm39) |
missense |
probably benign |
|
|
R1346:Slc25a32
|
UTSW |
15 |
38,963,411 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2519:Slc25a32
|
UTSW |
15 |
38,959,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4987:Slc25a32
|
UTSW |
15 |
38,963,414 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5586:Slc25a32
|
UTSW |
15 |
38,963,308 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5718:Slc25a32
|
UTSW |
15 |
38,960,957 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6932:Slc25a32
|
UTSW |
15 |
38,960,984 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7021:Slc25a32
|
UTSW |
15 |
38,963,321 (GRCm39) |
missense |
probably benign |
|
|
R7270:Slc25a32
|
UTSW |
15 |
38,961,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8224:Slc25a32
|
UTSW |
15 |
38,976,015 (GRCm39) |
unclassified |
probably benign |
|
|
R8523:Slc25a32
|
UTSW |
15 |
38,963,281 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8872:Slc25a32
|
UTSW |
15 |
38,969,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8955:Slc25a32
|
UTSW |
15 |
38,960,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Slc25a32
|
UTSW |
15 |
38,969,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0002:Slc25a32
|
UTSW |
15 |
38,965,473 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation