Incidental Mutation 'R4987:Slc25a32'
| ID |
385926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a32
|
| Ensembl Gene |
ENSMUSG00000022299 |
| Gene Name |
solute carrier family 25, member 32 |
| Synonyms |
2610043O12Rik, Mftc |
| MMRRC Submission |
042581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.363)
|
| Stock # |
R4987 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
38954626-38976111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38963414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 136
(C136R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022908]
[ENSMUST00000227323]
[ENSMUST00000228160]
|
| AlphaFold |
Q8BMG8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022908
AA Change: C136R
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: C136R
| 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 |
possibly damaging
Transcript: ENSMUST00000227323
AA Change: C136R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228160
|
| Meta Mutation Damage Score |
0.4760 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
| Validation Efficiency |
98% (44/45) |
| 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 |
|---|
| Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
| Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
| Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
| Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
| Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
| Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
| Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
| Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
| Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
| Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
| Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
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 |
|
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 |
|
|
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 |
|
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'- ACGGAGATGGTTTACAAGGC -3'
(R):5'- ATGCCCTACTTATGCCCAATG -3'
Sequencing Primer
(F):5'- CAGCATGGTGAAACATCTGTACTCTG -3'
(R):5'- ACTTTGTAGACCAGACTGGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation