Incidental Mutation 'IGL03160:Slc51a'
| ID |
411376 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc51a
|
| Ensembl Gene |
ENSMUSG00000035699 |
| Gene Name |
solute carrier family 51, alpha subunit |
| Synonyms |
Osta, OSTalpha, D630035O19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
IGL03160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32294396-32306697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32297568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 110
(R110C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042042]
[ENSMUST00000079791]
[ENSMUST00000115137]
[ENSMUST00000231690]
|
| AlphaFold |
Q8R000 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042042
AA Change: R110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046286
Gene: ENSMUSG00000035699
AA Change: R110C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Solute_trans_a
|
53 |
321 |
2.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079791
|
| SMART Domains |
Protein: ENSMUSP00000078721
Gene: ENSMUSG00000005615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
80 |
208 |
6.4e-24 |
PFAM |
|
low complexity region
|
244 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115137
|
| SMART Domains |
Protein: ENSMUSP00000110790
Gene: ENSMUSG00000005615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
80 |
201 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232418
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
C |
13: 111,392,462 (GRCm39) |
S266P |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,254,820 (GRCm39) |
F1525Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,380,165 (GRCm39) |
V2165A |
probably damaging |
Het |
| Ccn6 |
T |
C |
10: 39,029,233 (GRCm39) |
T232A |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,568,338 (GRCm39) |
|
probably null |
Het |
| Cdhr4 |
A |
C |
9: 107,873,068 (GRCm39) |
T339P |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,633,941 (GRCm39) |
H128R |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,365,427 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,998,880 (GRCm39) |
F1056S |
probably damaging |
Het |
| Eml3 |
A |
T |
19: 8,912,319 (GRCm39) |
Q372L |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,400,599 (GRCm39) |
T458A |
probably benign |
Het |
| Fbxo3 |
T |
A |
2: 103,860,692 (GRCm39) |
C36* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,309 (GRCm39) |
I369N |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,579 (GRCm39) |
Y423C |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,931,279 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,397,942 (GRCm39) |
Y290F |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,562,670 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
T |
7: 139,500,605 (GRCm39) |
K657* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,822,128 (GRCm39) |
T2927A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,622,103 (GRCm39) |
N345I |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,013 (GRCm39) |
|
probably benign |
Het |
| Muc1 |
G |
A |
3: 89,140,331 (GRCm39) |
V608I |
possibly damaging |
Het |
| Or56a3 |
A |
G |
7: 104,735,520 (GRCm39) |
N199S |
probably damaging |
Het |
| P2ry13 |
A |
G |
3: 59,117,496 (GRCm39) |
L94P |
probably damaging |
Het |
| Retreg3 |
G |
T |
11: 100,990,501 (GRCm39) |
Q89K |
probably benign |
Het |
| Rhoq |
A |
C |
17: 87,304,349 (GRCm39) |
Y160S |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,894 (GRCm39) |
V789D |
probably damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,502,472 (GRCm39) |
S275P |
probably damaging |
Het |
| Snapc1 |
T |
A |
12: 74,016,978 (GRCm39) |
H205Q |
probably damaging |
Het |
| Stard3 |
G |
T |
11: 98,269,737 (GRCm39) |
R352L |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,752,671 (GRCm39) |
I85V |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 49,099,453 (GRCm39) |
D117E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,711,152 (GRCm39) |
C971* |
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,640,651 (GRCm39) |
|
probably benign |
Het |
| Tra2a |
C |
T |
6: 49,240,798 (GRCm39) |
V4I |
possibly damaging |
Het |
| Trim54 |
C |
T |
5: 31,289,424 (GRCm39) |
T145I |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,644 (GRCm39) |
D723G |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,903,594 (GRCm39) |
T2042A |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 67,669,392 (GRCm39) |
E18G |
probably damaging |
Het |
|
| Other mutations in Slc51a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03201:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03227:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03228:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Slc51a
|
UTSW |
16 |
32,296,425 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0419:Slc51a
|
UTSW |
16 |
32,295,254 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0744:Slc51a
|
UTSW |
16 |
32,294,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0836:Slc51a
|
UTSW |
16 |
32,294,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3751:Slc51a
|
UTSW |
16 |
32,295,292 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5089:Slc51a
|
UTSW |
16 |
32,296,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5424:Slc51a
|
UTSW |
16 |
32,297,565 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5924:Slc51a
|
UTSW |
16 |
32,295,990 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6020:Slc51a
|
UTSW |
16 |
32,298,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Slc51a
|
UTSW |
16 |
32,294,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Slc51a
|
UTSW |
16 |
32,298,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7267:Slc51a
|
UTSW |
16 |
32,298,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7876:Slc51a
|
UTSW |
16 |
32,297,601 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8323:Slc51a
|
UTSW |
16 |
32,295,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9342:Slc51a
|
UTSW |
16 |
32,298,517 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9455:Slc51a
|
UTSW |
16 |
32,305,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation