Incidental Mutation 'IGL03228:Slc51a'
ID |
413785 |
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: 0.299)
|
Stock # |
IGL03228
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid3a |
G |
A |
10: 79,786,578 (GRCm39) |
V444I |
possibly damaging |
Het |
Catsperg2 |
T |
C |
7: 29,397,650 (GRCm39) |
Y1021C |
probably damaging |
Het |
Cbx1 |
A |
G |
11: 96,691,631 (GRCm39) |
|
probably benign |
Het |
Cdk15 |
G |
T |
1: 59,297,912 (GRCm39) |
K106N |
possibly damaging |
Het |
Itpkb |
A |
T |
1: 180,241,564 (GRCm39) |
R745W |
probably damaging |
Het |
Kdr |
T |
A |
5: 76,117,708 (GRCm39) |
I682F |
probably damaging |
Het |
Klhl1 |
T |
A |
14: 96,477,763 (GRCm39) |
E435V |
probably damaging |
Het |
Lamp3 |
T |
A |
16: 19,494,817 (GRCm39) |
Y296F |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 55,999,408 (GRCm39) |
N10Y |
probably damaging |
Het |
Mmrn1 |
C |
T |
6: 60,921,876 (GRCm39) |
P111L |
probably benign |
Het |
Nt5c |
A |
G |
11: 115,381,987 (GRCm39) |
Y107H |
probably damaging |
Het |
Or2m12 |
A |
C |
16: 19,105,140 (GRCm39) |
L118V |
probably damaging |
Het |
Or5p53 |
T |
A |
7: 107,533,330 (GRCm39) |
I201N |
possibly damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,050 (GRCm39) |
F251L |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,186,133 (GRCm39) |
S1679C |
probably damaging |
Het |
Plac8l1 |
T |
A |
18: 42,325,672 (GRCm39) |
S78C |
probably damaging |
Het |
Scyl2 |
A |
T |
10: 89,485,942 (GRCm39) |
I549N |
probably damaging |
Het |
Slc6a20b |
G |
T |
9: 123,461,197 (GRCm39) |
Y65* |
probably null |
Het |
Stx11 |
G |
A |
10: 12,816,956 (GRCm39) |
T256M |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,026,686 (GRCm39) |
C3505R |
probably benign |
Het |
Trim75 |
A |
G |
8: 65,436,006 (GRCm39) |
L148P |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,156,909 (GRCm39) |
N2311K |
probably damaging |
Het |
Zfp553 |
A |
G |
7: 126,835,249 (GRCm39) |
H268R |
probably damaging |
Het |
|
Other mutations in Slc51a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03160:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |