Incidental Mutation 'R0969:Slco5a1'
| ID |
83969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco5a1
|
| Ensembl Gene |
ENSMUSG00000025938 |
| Gene Name |
solute carrier organic anion transporter family, member 5A1 |
| Synonyms |
A630033C23Rik |
| MMRRC Submission |
039098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0969 (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 13060116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 202
(A202T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140091
(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: A202T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111061
Gene: ENSMUSG00000025938
AA Change: A202T
| 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: A202T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111062
Gene: ENSMUSG00000025938
AA Change: A202T
| 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 damaging
Transcript: ENSMUST00000136197
AA Change: A202T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139533
Gene: ENSMUSG00000025938
AA Change: A202T
| 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 damaging
Transcript: ENSMUST00000146763
AA Change: A202T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139586
Gene: ENSMUSG00000025938
AA Change: A202T
| 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 damaging
Transcript: ENSMUST00000147606
AA Change: A202T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140658
Gene: ENSMUSG00000025938
AA Change: A202T
| 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: A202T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140091
Gene: ENSMUSG00000025938
AA Change: A202T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191566
|
| Meta Mutation Damage Score |
0.6318 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
C |
10: 42,194,617 (GRCm39) |
T392A |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,219,319 (GRCm39) |
S146P |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,638 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
T |
A |
3: 101,183,371 (GRCm39) |
I313F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,816,572 (GRCm39) |
D374E |
possibly damaging |
Het |
| Cep85l |
T |
C |
10: 53,157,592 (GRCm39) |
K602E |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,630,526 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,386,999 (GRCm39) |
L878Q |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,461 (GRCm39) |
T169S |
probably damaging |
Het |
| Gpx3 |
T |
C |
11: 54,799,852 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,181,937 (GRCm39) |
V1010D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,712 (GRCm39) |
L2647Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,592 (GRCm39) |
D297G |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,785 (GRCm39) |
E393G |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,433,822 (GRCm39) |
Q590K |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,886,898 (GRCm39) |
D367G |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,965 (GRCm39) |
Y1106H |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
A |
C |
1: 97,047,685 (GRCm39) |
I206R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srek1 |
G |
A |
13: 103,889,011 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,701,680 (GRCm39) |
R112S |
probably benign |
Het |
| Suclg1 |
T |
A |
6: 73,248,099 (GRCm39) |
H273Q |
probably benign |
Het |
| Taf2 |
T |
A |
15: 54,894,553 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,379,840 (GRCm39) |
V566A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,977,331 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
T |
11: 73,169,764 (GRCm39) |
Q112* |
probably null |
Het |
| Ttll8 |
T |
C |
15: 88,818,138 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,607,661 (GRCm39) |
|
probably benign |
Het |
| Zfp961 |
T |
G |
8: 72,722,139 (GRCm39) |
H217Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGGGTGTAAATCGGTGTAGAG -3'
(R):5'- GCAGTGTCATCACCACCATCGAAAG -3'
Sequencing Primer
(F):5'- AATCGGTGTAGAGCCCATTC -3'
(R):5'- GGCGCTATAGCTTGAAGAGT -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation