Incidental Mutation 'R4532:Slco5a1'
| ID |
333130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco5a1
|
| Ensembl Gene |
ENSMUSG00000025938 |
| Gene Name |
solute carrier organic anion transporter family, member 5A1 |
| Synonyms |
A630033C23Rik |
| MMRRC Submission |
041772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4532 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
12936773-13062874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12949447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 648
(T648S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115402]
[ENSMUST00000115403]
[ENSMUST00000136197]
[ENSMUST00000146763]
[ENSMUST00000147606]
[ENSMUST00000188454]
|
| AlphaFold |
E9PVD9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115402
AA Change: T648S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111061
Gene: ENSMUSG00000025938
AA Change: T648S
| 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 damaging
Transcript: ENSMUST00000115403
AA Change: T648S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: T648S
| 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 |
probably damaging
Transcript: ENSMUST00000188454
AA Change: T648S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: T648S
| 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 |
0.2485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (54/54) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,101 (GRCm39) |
E647G |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,702,243 (GRCm39) |
K1099E |
unknown |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Cd19 |
C |
T |
7: 126,011,281 (GRCm39) |
C301Y |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,370,202 (GRCm39) |
T198A |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 123,298,495 (GRCm39) |
S407P |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,227 (GRCm39) |
T34A |
probably damaging |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,318 (GRCm39) |
C52* |
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,243,278 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm21095 |
A |
G |
Y: 84,131,953 (GRCm39) |
N149S |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,867 (GRCm39) |
H311L |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,765,081 (GRCm39) |
R558C |
unknown |
Het |
| Heatr6 |
T |
C |
11: 83,660,498 (GRCm39) |
L546P |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,603,963 (GRCm39) |
G623S |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,377,564 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrrc3c |
C |
A |
11: 98,489,859 (GRCm39) |
S72* |
probably null |
Het |
| Me3 |
G |
A |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Msln |
A |
G |
17: 25,969,698 (GRCm39) |
I344T |
probably damaging |
Het |
| Oma1 |
G |
A |
4: 103,176,571 (GRCm39) |
V112I |
probably benign |
Het |
| Or5al6 |
A |
T |
2: 85,976,274 (GRCm39) |
L268Q |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,756 (GRCm39) |
Y252H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,341,744 (GRCm39) |
N659S |
probably damaging |
Het |
| Rmnd5a |
A |
T |
6: 71,376,109 (GRCm39) |
|
probably null |
Het |
| Slc12a8 |
C |
A |
16: 33,371,403 (GRCm39) |
R180S |
probably damaging |
Het |
| Slc6a15 |
G |
A |
10: 103,245,648 (GRCm39) |
V544M |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,194,219 (GRCm39) |
F921L |
probably damaging |
Het |
| Stard6 |
A |
C |
18: 70,616,605 (GRCm39) |
D88A |
probably damaging |
Het |
| Svep1 |
G |
T |
4: 58,068,886 (GRCm39) |
H2967N |
possibly damaging |
Het |
| Tcaf2 |
A |
C |
6: 42,603,371 (GRCm39) |
Y730D |
probably damaging |
Het |
| Tes |
G |
A |
6: 17,097,407 (GRCm39) |
V172M |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,902,914 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r38 |
G |
T |
6: 66,754,016 (GRCm39) |
H33Q |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,797,349 (GRCm39) |
C821* |
probably null |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,507 (GRCm39) |
I455N |
probably benign |
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 |
|
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 |
|
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'- AGGCTTTATTCTTGACTGGCCTATAAC -3'
Sequencing Primer
(F):5'- ACGTATGGGTGCCTGCCAG -3'
(R):5'- ACTTATCTTTATTTGCTACTCAGGTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation