Incidental Mutation 'IGL03267:Slc51a'
| ID |
415106 |
| 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 # |
IGL03267
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
C |
T |
5: 121,775,412 (GRCm39) |
R430Q |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,467,630 (GRCm39) |
I1857F |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,050 (GRCm39) |
M345L |
probably benign |
Het |
| Babam1 |
T |
G |
8: 71,855,708 (GRCm39) |
|
probably null |
Het |
| Bbs7 |
A |
G |
3: 36,627,654 (GRCm39) |
F711S |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,507,262 (GRCm39) |
E458G |
probably damaging |
Het |
| Car6 |
T |
C |
4: 150,280,503 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,713,724 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,845,930 (GRCm39) |
V3A |
possibly damaging |
Het |
| Ddc |
T |
C |
11: 11,826,303 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 138,990,599 (GRCm39) |
R188* |
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,008,545 (GRCm39) |
A2046S |
probably benign |
Het |
| Duxf4 |
T |
C |
10: 58,071,609 (GRCm39) |
T202A |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,350,003 (GRCm39) |
S20T |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,789,993 (GRCm39) |
C916* |
probably null |
Het |
| Fam78a |
T |
C |
2: 31,959,679 (GRCm39) |
I144V |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,943 (GRCm39) |
|
probably benign |
Het |
| Il9r |
T |
A |
11: 32,141,778 (GRCm39) |
H320L |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,896,543 (GRCm39) |
T135M |
probably damaging |
Het |
| Lca5l |
T |
A |
16: 95,960,983 (GRCm39) |
Q498L |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,971,457 (GRCm39) |
H70R |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,406,856 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
G |
T |
2: 36,760,513 (GRCm39) |
A312S |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,386,304 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,978 (GRCm39) |
Y259* |
probably null |
Het |
| Pik3cg |
C |
A |
12: 32,255,307 (GRCm39) |
G227C |
possibly damaging |
Het |
| Ptprn2 |
C |
T |
12: 116,839,964 (GRCm39) |
Q496* |
probably null |
Het |
| Rif1 |
T |
G |
2: 51,967,000 (GRCm39) |
N96K |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,116,169 (GRCm39) |
D1176A |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,315,322 (GRCm39) |
I436T |
probably benign |
Het |
| Spata31e5 |
G |
A |
1: 28,816,202 (GRCm39) |
T610I |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,864,686 (GRCm39) |
C1950R |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,013,813 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
G |
A |
3: 100,852,120 (GRCm39) |
R1009* |
probably null |
Het |
| Wfdc16 |
A |
G |
2: 164,480,462 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zfp367 |
A |
G |
13: 64,292,097 (GRCm39) |
|
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,574,908 (GRCm39) |
R376H |
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 |
|
IGL03228: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