Incidental Mutation 'R8117:Slco1a5'
| ID |
631269 |
| 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 |
067546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 142208418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 124
(N124K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000128446]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081380
AA Change: N124K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: N124K
| 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 damaging
Transcript: ENSMUST00000111825
AA Change: N124K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: N124K
| 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 damaging
Transcript: ENSMUST00000128446
AA Change: N82K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: N82K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153268
AA Change: T80N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: T80N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,058,078 (GRCm39) |
T14A |
|
Het |
| 2610008E11Rik |
T |
C |
10: 78,930,289 (GRCm39) |
N42D |
probably benign |
Het |
| Ajm1 |
A |
G |
2: 25,469,246 (GRCm39) |
F222L |
probably benign |
Het |
| Ankrd54 |
T |
A |
15: 78,939,641 (GRCm39) |
M183L |
|
Het |
| Apob |
G |
A |
12: 8,056,435 (GRCm39) |
G1639D |
probably damaging |
Het |
| B3gat2 |
A |
G |
1: 23,884,061 (GRCm39) |
T283A |
probably benign |
Het |
| Bmpr2 |
T |
G |
1: 59,886,252 (GRCm39) |
S296R |
probably damaging |
Het |
| Cand1 |
G |
A |
10: 119,042,721 (GRCm39) |
T1123I |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,869,781 (GRCm39) |
F943S |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,144,211 (GRCm39) |
I912T |
probably benign |
Het |
| Cdkn2d |
G |
A |
9: 21,200,447 (GRCm39) |
S108L |
probably benign |
Het |
| Cep295 |
G |
A |
9: 15,245,660 (GRCm39) |
T932I |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,673,955 (GRCm39) |
S716P |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,895,808 (GRCm39) |
E903G |
probably benign |
Het |
| Ctrc |
T |
A |
4: 141,565,972 (GRCm39) |
I229F |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,418,771 (GRCm39) |
A18T |
probably benign |
Het |
| Dnajb4 |
T |
A |
3: 151,899,089 (GRCm39) |
K46* |
probably null |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dsg1c |
C |
T |
18: 20,410,016 (GRCm39) |
H495Y |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,879,414 (GRCm39) |
D18G |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,651,385 (GRCm39) |
I965L |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,855,245 (GRCm39) |
Y1918C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,823,296 (GRCm39) |
I6343N |
possibly damaging |
Het |
| Gpr45 |
G |
C |
1: 43,072,475 (GRCm39) |
V373L |
probably damaging |
Het |
| Hdac2 |
G |
T |
10: 36,873,966 (GRCm39) |
Q365H |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,980,389 (GRCm39) |
T103A |
possibly damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,262,350 (GRCm39) |
S287T |
probably benign |
Het |
| Igkv6-15 |
G |
A |
6: 70,383,622 (GRCm39) |
P60S |
possibly damaging |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Kctd19 |
T |
A |
8: 106,122,069 (GRCm39) |
D109V |
unknown |
Het |
| Matn4 |
G |
A |
2: 164,234,851 (GRCm39) |
S540L |
probably damaging |
Het |
| Matn4 |
T |
C |
2: 164,241,682 (GRCm39) |
K248E |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,420,206 (GRCm39) |
Q97* |
probably null |
Het |
| Mup18 |
A |
G |
4: 61,592,238 (GRCm39) |
C9R |
unknown |
Het |
| Myh1 |
A |
G |
11: 67,113,031 (GRCm39) |
K1845R |
probably damaging |
Het |
| Mysm1 |
G |
A |
4: 94,848,627 (GRCm39) |
R469* |
probably null |
Het |
| Naip1 |
T |
C |
13: 100,563,509 (GRCm39) |
D552G |
possibly damaging |
Het |
| Nrcam |
A |
G |
12: 44,618,371 (GRCm39) |
D787G |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,645,365 (GRCm39) |
V1256I |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,932,980 (GRCm39) |
H4799N |
possibly damaging |
Het |
| Or1f12 |
T |
C |
13: 21,722,122 (GRCm39) |
K3E |
probably benign |
Het |
| Or4p4 |
A |
G |
2: 88,482,729 (GRCm39) |
K78E |
probably damaging |
Het |
| Or52e18 |
T |
C |
7: 104,609,356 (GRCm39) |
I194M |
probably damaging |
Het |
| Or7g22 |
A |
G |
9: 19,048,353 (GRCm39) |
I21M |
probably benign |
Het |
| Pcdhgb5 |
T |
C |
18: 37,866,302 (GRCm39) |
F699S |
probably damaging |
Het |
| Phtf2 |
T |
C |
5: 21,007,038 (GRCm39) |
E175G |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,740,075 (GRCm39) |
T340I |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,517,519 (GRCm39) |
H218R |
possibly damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,785 (GRCm39) |
R297G |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,648,747 (GRCm39) |
D619E |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,552,191 (GRCm39) |
V321I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,105 (GRCm39) |
V413A |
probably damaging |
Het |
| Rsf1 |
G |
T |
7: 97,288,464 (GRCm39) |
|
probably null |
Het |
| Sccpdh |
A |
G |
1: 179,504,017 (GRCm39) |
D122G |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,331,441 (GRCm39) |
H191Q |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,071,051 (GRCm39) |
T1111A |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,725,988 (GRCm39) |
V384E |
probably damaging |
Het |
| Tbrg1 |
A |
G |
9: 37,568,296 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tecta |
A |
G |
9: 42,288,927 (GRCm39) |
F546S |
probably damaging |
Het |
| Tmem132c |
A |
G |
5: 127,437,176 (GRCm39) |
R222G |
probably benign |
Het |
| Trub2 |
C |
T |
2: 29,668,739 (GRCm39) |
|
probably null |
Het |
| Tti1 |
G |
T |
2: 157,849,418 (GRCm39) |
P607Q |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,726 (GRCm39) |
F136I |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,469 (GRCm39) |
H179L |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,699,063 (GRCm39) |
C2703* |
probably null |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Wipf3 |
A |
G |
6: 54,460,816 (GRCm39) |
K88R |
probably benign |
Het |
| Zfp641 |
C |
T |
15: 98,186,856 (GRCm39) |
G256R |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,741,972 (GRCm39) |
C99S |
probably benign |
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 |
|
R6146:Slco1a5
|
UTSW |
6 |
142,180,534 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- TAGGCATCTCCCTTCTCTGAAG -3'
(R):5'- CATTGTCACACCACAGGATTC -3'
Sequencing Primer
(F):5'- TCCCTTCTCTGAAGAAAGAAATTTTG -3'
(R):5'- CATAATGACTAGACTGGCTGCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation