Incidental Mutation 'R6146:Slco1a5'
| ID |
488873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a5
|
| Ensembl Gene |
ENSMUSG00000063975 |
| Gene Name |
solute carrier organic anion transporter family, member 1a5 |
| Synonyms |
Slc21a7, Oatp3 |
| MMRRC Submission |
044293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142180534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 623
(M623L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
AA Change: M623L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: M623L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
4.3e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111825
AA Change: M623L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: M623L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
5.8e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153268
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157614
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,946,587 (GRCm39) |
E29G |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,491,628 (GRCm39) |
S552P |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,829 (GRCm39) |
I129T |
probably benign |
Het |
| Adhfe1 |
A |
G |
1: 9,623,943 (GRCm39) |
N148S |
probably damaging |
Het |
| AI182371 |
A |
G |
2: 34,987,983 (GRCm39) |
Y77H |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,103,661 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
A |
G |
19: 42,028,544 (GRCm39) |
T67A |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,287,604 (GRCm39) |
C232* |
probably null |
Het |
| Cchcr1 |
A |
G |
17: 35,839,475 (GRCm39) |
D587G |
possibly damaging |
Het |
| Cgn |
G |
T |
3: 94,674,435 (GRCm39) |
Q901K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,814,692 (GRCm39) |
K18* |
probably null |
Het |
| Cluh |
G |
T |
11: 74,558,054 (GRCm39) |
|
probably null |
Het |
| Crebbp |
G |
A |
16: 3,902,487 (GRCm39) |
Q2213* |
probably null |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,036 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
T |
C |
13: 25,389,440 (GRCm39) |
V456A |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,126,075 (GRCm39) |
E569G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,331 (GRCm39) |
F4517L |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,664,421 (GRCm39) |
K317E |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,180,181 (GRCm39) |
D1951E |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,149 (GRCm39) |
I65L |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,586,548 (GRCm39) |
K417E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,532,165 (GRCm39) |
M96V |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,892 (GRCm39) |
Y135* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,102,812 (GRCm39) |
R1238Q |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,939,056 (GRCm39) |
N255S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,341,345 (GRCm39) |
D945G |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,765,432 (GRCm39) |
D537G |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,019,149 (GRCm39) |
I992F |
probably damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,524 (GRCm39) |
S28P |
probably benign |
Het |
| Mrc2 |
C |
A |
11: 105,216,470 (GRCm39) |
N86K |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,758,486 (GRCm39) |
A302S |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,409,093 (GRCm39) |
N198Y |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,512 (GRCm39) |
S1423P |
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,662 (GRCm39) |
D277V |
possibly damaging |
Het |
| Or2b28 |
A |
T |
13: 21,531,164 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,077 (GRCm39) |
V122A |
probably benign |
Het |
| Or5p56 |
G |
T |
7: 107,589,620 (GRCm39) |
G16V |
probably damaging |
Het |
| Or5w17 |
A |
C |
2: 87,583,602 (GRCm39) |
L245R |
probably damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,938 (GRCm39) |
K186* |
probably null |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Polg |
T |
C |
7: 79,100,260 (GRCm39) |
M1184V |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,694,463 (GRCm39) |
Y108C |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,540 (GRCm39) |
I474N |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,354,391 (GRCm39) |
|
probably benign |
Het |
| Rbp1 |
C |
A |
9: 98,307,669 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,326,825 (GRCm39) |
V1605A |
probably benign |
Het |
| Rps24 |
A |
T |
14: 24,540,803 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
C |
6: 113,098,773 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,333,359 (GRCm39) |
E1536G |
probably damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,532,228 (GRCm39) |
I435V |
probably benign |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Spn |
A |
G |
7: 126,735,479 (GRCm39) |
S343P |
possibly damaging |
Het |
| Sptan1 |
A |
G |
2: 29,894,535 (GRCm39) |
T1168A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,064,012 (GRCm39) |
L2138* |
probably null |
Het |
| Tg |
T |
A |
15: 66,545,216 (GRCm39) |
|
probably null |
Het |
| Tigd5 |
T |
A |
15: 75,782,094 (GRCm39) |
L152Q |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,447,126 (GRCm39) |
V170I |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,298,913 (GRCm39) |
C1068R |
possibly damaging |
Het |
| Ubr1 |
A |
T |
2: 120,723,690 (GRCm39) |
Y1290N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,817 (GRCm39) |
F188I |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,522 (GRCm39) |
V299I |
probably benign |
Het |
| Vmn2r91 |
T |
G |
17: 18,356,518 (GRCm39) |
H728Q |
probably benign |
Het |
| Vta1 |
T |
C |
10: 14,581,096 (GRCm39) |
Y37C |
probably damaging |
Het |
| Wbp2 |
C |
A |
11: 115,974,728 (GRCm39) |
M35I |
probably benign |
Het |
| Zcchc9 |
G |
A |
13: 91,953,986 (GRCm39) |
Q90* |
probably null |
Het |
|
| Other mutations in Slco1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Slco1a5
|
APN |
6 |
142,187,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01432:Slco1a5
|
APN |
6 |
142,182,012 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01590:Slco1a5
|
APN |
6 |
142,196,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01824:Slco1a5
|
APN |
6 |
142,198,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01915:Slco1a5
|
APN |
6 |
142,189,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01945:Slco1a5
|
APN |
6 |
142,189,715 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02078:Slco1a5
|
APN |
6 |
142,200,172 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02178:Slco1a5
|
APN |
6 |
142,208,414 (GRCm39) |
nonsense |
probably null |
|
|
IGL02366:Slco1a5
|
APN |
6 |
142,195,941 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02395:Slco1a5
|
APN |
6 |
142,221,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02621:Slco1a5
|
APN |
6 |
142,187,741 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02752:Slco1a5
|
APN |
6 |
142,208,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02940:Slco1a5
|
APN |
6 |
142,187,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Slco1a5
|
APN |
6 |
142,194,569 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Slco1a5
|
APN |
6 |
142,180,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0230:Slco1a5
|
UTSW |
6 |
142,182,054 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Slco1a5
|
UTSW |
6 |
142,214,004 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1217:Slco1a5
|
UTSW |
6 |
142,200,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Slco1a5
|
UTSW |
6 |
142,187,789 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2084:Slco1a5
|
UTSW |
6 |
142,180,437 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2393:Slco1a5
|
UTSW |
6 |
142,194,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2414:Slco1a5
|
UTSW |
6 |
142,181,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Slco1a5
|
UTSW |
6 |
142,195,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3420:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3421:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3827:Slco1a5
|
UTSW |
6 |
142,198,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3963:Slco1a5
|
UTSW |
6 |
142,194,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3977:Slco1a5
|
UTSW |
6 |
142,204,698 (GRCm39) |
splice site |
probably benign |
|
|
R4074:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4075:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4076:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4782:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4799:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4831:Slco1a5
|
UTSW |
6 |
142,180,431 (GRCm39) |
missense |
probably benign |
|
|
R5038:Slco1a5
|
UTSW |
6 |
142,212,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Slco1a5
|
UTSW |
6 |
142,208,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5063:Slco1a5
|
UTSW |
6 |
142,204,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Slco1a5
|
UTSW |
6 |
142,187,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5436:Slco1a5
|
UTSW |
6 |
142,200,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Slco1a5
|
UTSW |
6 |
142,187,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5602:Slco1a5
|
UTSW |
6 |
142,221,255 (GRCm39) |
start gained |
probably benign |
|
|
R5643:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5644:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5686:Slco1a5
|
UTSW |
6 |
142,182,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Slco1a5
|
UTSW |
6 |
142,194,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5792:Slco1a5
|
UTSW |
6 |
142,187,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Slco1a5
|
UTSW |
6 |
142,194,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5997:Slco1a5
|
UTSW |
6 |
142,198,839 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6377:Slco1a5
|
UTSW |
6 |
142,187,906 (GRCm39) |
splice site |
probably null |
|
|
R6466:Slco1a5
|
UTSW |
6 |
142,183,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6523:Slco1a5
|
UTSW |
6 |
142,212,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Slco1a5
|
UTSW |
6 |
142,194,401 (GRCm39) |
missense |
probably benign |
|
|
R7207:Slco1a5
|
UTSW |
6 |
142,194,475 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Slco1a5
|
UTSW |
6 |
142,180,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7430:Slco1a5
|
UTSW |
6 |
142,194,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7445:Slco1a5
|
UTSW |
6 |
142,204,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7499:Slco1a5
|
UTSW |
6 |
142,208,257 (GRCm39) |
splice site |
probably null |
|
|
R7579:Slco1a5
|
UTSW |
6 |
142,221,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8117:Slco1a5
|
UTSW |
6 |
142,208,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Slco1a5
|
UTSW |
6 |
142,208,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Slco1a5
|
UTSW |
6 |
142,221,202 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8358:Slco1a5
|
UTSW |
6 |
142,208,411 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8710:Slco1a5
|
UTSW |
6 |
142,198,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9071:Slco1a5
|
UTSW |
6 |
142,196,052 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9316:Slco1a5
|
UTSW |
6 |
142,195,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9427:Slco1a5
|
UTSW |
6 |
142,214,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCATAGGCCAGGAGAAG -3'
(R):5'- TGCTCCGTTAGAAAGTTCTGGATG -3'
Sequencing Primer
(F):5'- CCAGGAGAAGATTCATTACAGCTTAG -3'
(R):5'- AGTTCTGGATGCTAAAAGCCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation