Incidental Mutation 'IGL03270:Slco5a1'
ID |
415230 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slco5a1
|
Ensembl Gene |
ENSMUSG00000025938 |
Gene Name |
solute carrier organic anion transporter family, member 5A1 |
Synonyms |
A630033C23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL03270
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
12936773-13062874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 12942252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 798
(T798I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115402]
[ENSMUST00000115403]
[ENSMUST00000188454]
|
AlphaFold |
E9PVD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115402
|
SMART Domains |
Protein: ENSMUSP00000111061 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
548 |
3e-28 |
PFAM |
KAZAL
|
559 |
602 |
3.26e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115403
AA Change: T798I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111062 Gene: ENSMUSG00000025938 AA Change: T798I
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
547 |
2.8e-28 |
PFAM |
KAZAL
|
559 |
602 |
3.26e-2 |
SMART |
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188454
AA Change: T798I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140091 Gene: ENSMUSG00000025938 AA Change: T798I
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
548 |
4.1e-28 |
PFAM |
KAZAL
|
559 |
602 |
3.26e-2 |
SMART |
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ctnnd1 |
A |
T |
2: 84,440,071 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
T |
1: 130,803,779 (GRCm39) |
R194S |
possibly damaging |
Het |
Fmo2 |
A |
G |
1: 162,709,595 (GRCm39) |
F264S |
probably damaging |
Het |
Gfra2 |
A |
G |
14: 71,163,344 (GRCm39) |
D209G |
possibly damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
A |
G |
18: 60,378,548 (GRCm39) |
K28E |
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,676,302 (GRCm39) |
M419K |
probably benign |
Het |
Lgr6 |
A |
C |
1: 134,925,442 (GRCm39) |
I133S |
probably damaging |
Het |
Med13l |
A |
C |
5: 118,869,495 (GRCm39) |
N811T |
probably damaging |
Het |
Or4c118 |
A |
G |
2: 88,975,089 (GRCm39) |
F93L |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,987,119 (GRCm39) |
M260K |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,592,637 (GRCm39) |
D1580V |
possibly damaging |
Het |
Ppp4r2 |
T |
G |
6: 100,840,086 (GRCm39) |
N72K |
probably damaging |
Het |
Prr27 |
T |
C |
5: 87,983,537 (GRCm39) |
|
probably benign |
Het |
Rad51d |
A |
G |
11: 82,772,420 (GRCm39) |
|
probably benign |
Het |
Rel |
T |
C |
11: 23,692,584 (GRCm39) |
N483S |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,358 (GRCm39) |
F1776L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,606,811 (GRCm39) |
D18033G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,756 (GRCm39) |
S202T |
probably damaging |
Het |
Vmn2r110 |
T |
G |
17: 20,803,778 (GRCm39) |
M266L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,027,778 (GRCm39) |
D506V |
probably benign |
Het |
Zbtb1 |
T |
C |
12: 76,432,289 (GRCm39) |
S92P |
possibly damaging |
Het |
|
Other mutations in Slco5a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02264:Slco5a1
|
APN |
1 |
12,942,219 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02330:Slco5a1
|
APN |
1 |
13,009,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02660:Slco5a1
|
APN |
1 |
13,059,860 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02904:Slco5a1
|
APN |
1 |
12,991,321 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02972:Slco5a1
|
APN |
1 |
13,060,379 (GRCm39) |
nonsense |
probably null |
|
IGL03100:Slco5a1
|
APN |
1 |
12,949,504 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0969:Slco5a1
|
UTSW |
1 |
13,060,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1337:Slco5a1
|
UTSW |
1 |
13,009,366 (GRCm39) |
missense |
probably benign |
0.01 |
R1434:Slco5a1
|
UTSW |
1 |
12,942,132 (GRCm39) |
missense |
probably benign |
0.00 |
R1627:Slco5a1
|
UTSW |
1 |
13,060,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Slco5a1
|
UTSW |
1 |
13,059,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Slco5a1
|
UTSW |
1 |
12,964,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1894:Slco5a1
|
UTSW |
1 |
12,942,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R2301:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2302:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2303:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2304:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2349:Slco5a1
|
UTSW |
1 |
12,991,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R2351:Slco5a1
|
UTSW |
1 |
13,060,158 (GRCm39) |
missense |
probably benign |
0.05 |
R3079:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R3949:Slco5a1
|
UTSW |
1 |
13,059,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R4197:Slco5a1
|
UTSW |
1 |
12,964,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R4380:Slco5a1
|
UTSW |
1 |
13,009,392 (GRCm39) |
missense |
probably damaging |
0.96 |
R4532:Slco5a1
|
UTSW |
1 |
12,949,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Slco5a1
|
UTSW |
1 |
12,949,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R5891:Slco5a1
|
UTSW |
1 |
13,060,626 (GRCm39) |
missense |
probably benign |
0.04 |
R6024:Slco5a1
|
UTSW |
1 |
13,014,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Slco5a1
|
UTSW |
1 |
12,991,409 (GRCm39) |
missense |
probably benign |
0.27 |
R6492:Slco5a1
|
UTSW |
1 |
13,060,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Slco5a1
|
UTSW |
1 |
12,951,420 (GRCm39) |
intron |
probably benign |
|
R6994:Slco5a1
|
UTSW |
1 |
12,951,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Slco5a1
|
UTSW |
1 |
13,060,661 (GRCm39) |
missense |
probably benign |
0.00 |
R7747:Slco5a1
|
UTSW |
1 |
13,060,346 (GRCm39) |
missense |
probably benign |
0.05 |
R7802:Slco5a1
|
UTSW |
1 |
13,060,700 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7895:Slco5a1
|
UTSW |
1 |
13,059,927 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7984:Slco5a1
|
UTSW |
1 |
12,951,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R8172:Slco5a1
|
UTSW |
1 |
13,060,490 (GRCm39) |
nonsense |
probably null |
|
R8536:Slco5a1
|
UTSW |
1 |
12,951,525 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9052:Slco5a1
|
UTSW |
1 |
13,060,397 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9208:Slco5a1
|
UTSW |
1 |
13,059,802 (GRCm39) |
critical splice donor site |
probably null |
|
R9579:Slco5a1
|
UTSW |
1 |
12,949,383 (GRCm39) |
nonsense |
probably null |
|
RF010:Slco5a1
|
UTSW |
1 |
12,942,171 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Slco5a1
|
UTSW |
1 |
12,942,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |