Incidental Mutation 'R1346:Slc25a32'
| ID |
156519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a32
|
| Ensembl Gene |
ENSMUSG00000022299 |
| Gene Name |
solute carrier family 25, member 32 |
| Synonyms |
2610043O12Rik, Mftc |
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
38954626-38976111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38963411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 137
(I137F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022908]
[ENSMUST00000227323]
[ENSMUST00000228160]
|
| AlphaFold |
Q8BMG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022908
AA Change: I137F
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: I137F
| 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: I137F
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228160
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
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 |
|
IGL03408:Slc25a32
|
APN |
15 |
38,963,425 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTACCTTGTATAATCCACGCACACC -3'
(R):5'- GCAGTGCCTAAGAATCCACATCTCC -3'
Sequencing Primer
(F):5'- GGCTAGCAACACCACCATAT -3'
(R):5'- ctccacctctgccaagttc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation