Incidental Mutation 'R2302:Slco5a1'
ID |
244442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco5a1
|
Ensembl Gene |
ENSMUSG00000025938 |
Gene Name |
solute carrier organic anion transporter family, member 5A1 |
Synonyms |
A630033C23Rik |
MMRRC Submission |
040301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R2302 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
12936773-13062874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12949486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 635
(G635S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115402]
[ENSMUST00000115403]
[ENSMUST00000136197]
[ENSMUST00000146763]
[ENSMUST00000147606]
[ENSMUST00000188454]
|
AlphaFold |
E9PVD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115402
AA Change: G635S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111061 Gene: ENSMUSG00000025938 AA Change: G635S
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 |
possibly damaging
Transcript: ENSMUST00000115403
AA Change: G635S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000111062 Gene: ENSMUSG00000025938 AA Change: G635S
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 |
noncoding transcript
Transcript: ENSMUST00000133201
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136197
|
SMART Domains |
Protein: ENSMUSP00000139533 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
548 |
3.6e-27 |
PFAM |
KAZAL
|
559 |
601 |
4.3e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146763
|
SMART Domains |
Protein: ENSMUSP00000139586 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:OATP
|
130 |
352 |
8.4e-72 |
PFAM |
Pfam:MFS_1
|
137 |
332 |
1.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147606
|
SMART Domains |
Protein: ENSMUSP00000140658 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:OATP
|
130 |
478 |
1.5e-105 |
PFAM |
Pfam:MFS_1
|
137 |
476 |
2.3e-24 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188454
AA Change: G635S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140091 Gene: ENSMUSG00000025938 AA Change: G635S
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 |
|
Meta Mutation Damage Score |
0.3238 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (30/31) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
probably 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 |
IGL03270:Slco5a1
|
APN |
1 |
12,942,252 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCAGAAGAGCACGTATG -3'
(R):5'- GCCAGGCTTTATTCTTGACTG -3'
Sequencing Primer
(F):5'- ACGTATGGGTGCCTGCCAG -3'
(R):5'- GGCTTTATTCTTGACTGGCCTATAAC -3'
|
Posted On |
2014-10-30 |