Incidental Mutation 'R4284:Slc25a51'
| ID |
321981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a51
|
| Ensembl Gene |
ENSMUSG00000045973 |
| Gene Name |
solute carrier family 25, member 51 |
| Synonyms |
Mcart1, 9130208E07Rik, D130005A03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R4284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45395923-45408766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45399768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 141
(V141M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107796]
[ENSMUST00000116341]
[ENSMUST00000132815]
[ENSMUST00000151516]
[ENSMUST00000153904]
|
| AlphaFold |
Q5HZI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107796
AA Change: V141M
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103425
Gene: ENSMUSG00000045973
AA Change: V141M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
44 |
130 |
4.7e-11 |
PFAM |
|
Pfam:Mito_carr
|
132 |
223 |
3.5e-11 |
PFAM |
|
Pfam:Mito_carr
|
225 |
315 |
5.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116341
AA Change: V124M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112044
Gene: ENSMUSG00000045973
AA Change: V124M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
27 |
113 |
7.4e-12 |
PFAM |
|
Pfam:Mito_carr
|
115 |
206 |
5.5e-12 |
PFAM |
|
Pfam:Mito_carr
|
208 |
298 |
8.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132815
AA Change: V124M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134132
Gene: ENSMUSG00000045973
AA Change: V124M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
27 |
113 |
7.4e-12 |
PFAM |
|
Pfam:Mito_carr
|
115 |
206 |
5.5e-12 |
PFAM |
|
Pfam:Mito_carr
|
208 |
298 |
8.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151516
AA Change: V141M
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134108
Gene: ENSMUSG00000045973
AA Change: V141M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
44 |
130 |
1.7e-11 |
PFAM |
|
Pfam:Mito_carr
|
132 |
196 |
1.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153904
AA Change: V141M
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122620
Gene: ENSMUSG00000045973
AA Change: V141M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
44 |
130 |
2e-11 |
PFAM |
|
Pfam:Mito_carr
|
132 |
206 |
3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175444
|
| Meta Mutation Damage Score |
0.1604 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
| Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
| Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
| Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
| Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
| Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
|
| Other mutations in Slc25a51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02417:Slc25a51
|
APN |
4 |
45,400,074 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4285:Slc25a51
|
UTSW |
4 |
45,399,768 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4287:Slc25a51
|
UTSW |
4 |
45,399,768 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4505:Slc25a51
|
UTSW |
4 |
45,399,768 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4506:Slc25a51
|
UTSW |
4 |
45,399,768 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6819:Slc25a51
|
UTSW |
4 |
45,399,365 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7387:Slc25a51
|
UTSW |
4 |
45,399,841 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7432:Slc25a51
|
UTSW |
4 |
45,399,765 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8094:Slc25a51
|
UTSW |
4 |
45,399,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9056:Slc25a51
|
UTSW |
4 |
45,399,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Slc25a51
|
UTSW |
4 |
45,399,360 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCGGAAAAGGATGGGCAC -3'
(R):5'- ACCCGGTTCAGAAGATCCTC -3'
Sequencing Primer
(F):5'- ACCATGCCTCGGTAATACTCTG -3'
(R):5'- GCAGCTTTACGGCATCAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation