Incidental Mutation 'R6377:Slco1a5'
| ID |
515045 |
| 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 |
044527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6377 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 142187906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000111825]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081380
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
| 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 null
Transcript: ENSMUST00000081380
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
| 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 null
Transcript: ENSMUST00000111825
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
| 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 null
Transcript: ENSMUST00000111825
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
94% (59/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankib1 |
A |
G |
5: 3,743,855 (GRCm39) |
S812P |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,453,093 (GRCm39) |
E159G |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,821,889 (GRCm39) |
I861V |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,741,717 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,975,608 (GRCm39) |
G629C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,743,657 (GRCm39) |
F540Y |
probably damaging |
Het |
| Cpb1 |
A |
C |
3: 20,329,748 (GRCm39) |
|
probably null |
Het |
| Cyp4a14 |
A |
G |
4: 115,353,280 (GRCm39) |
Y11H |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,618,317 (GRCm39) |
Y242F |
probably benign |
Het |
| Drd3 |
G |
T |
16: 43,641,670 (GRCm39) |
G329* |
probably null |
Het |
| Duxf1 |
T |
C |
10: 58,059,494 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 83,985,945 (GRCm39) |
S17T |
probably benign |
Het |
| Eno1 |
A |
T |
4: 150,333,009 (GRCm39) |
K366N |
possibly damaging |
Het |
| Ffar2 |
C |
T |
7: 30,518,971 (GRCm39) |
V190I |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,429 (GRCm39) |
T508A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,988,567 (GRCm39) |
V1165A |
unknown |
Het |
| Foxj3 |
A |
T |
4: 119,430,945 (GRCm39) |
|
probably null |
Het |
| Gabarap |
T |
C |
11: 69,882,630 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
T |
A |
8: 36,270,736 (GRCm39) |
L1221* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,850,998 (GRCm39) |
Y931F |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,636 (GRCm39) |
S565T |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,717,995 (GRCm39) |
Y209* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,632 (GRCm39) |
G511R |
probably benign |
Het |
| Khdrbs1 |
C |
A |
4: 129,635,890 (GRCm39) |
D22Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,212,562 (GRCm39) |
L754Q |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,927,320 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 69,084,918 (GRCm39) |
V610F |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,283,825 (GRCm39) |
T698A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,928,961 (GRCm39) |
V267A |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,468,128 (GRCm39) |
D925E |
probably damaging |
Het |
| Lsg1 |
A |
G |
16: 30,393,386 (GRCm39) |
L187P |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,298,050 (GRCm39) |
V2328E |
possibly damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,271 (GRCm39) |
I305T |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,421,016 (GRCm39) |
M1V |
probably null |
Het |
| Myadml2 |
C |
A |
11: 120,538,538 (GRCm39) |
C99F |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,150,703 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ndufaf7 |
A |
T |
17: 79,250,739 (GRCm39) |
Q222L |
probably null |
Het |
| Nlrp4b |
A |
T |
7: 10,449,339 (GRCm39) |
Y147F |
probably benign |
Het |
| Or4c11c |
C |
T |
2: 88,661,613 (GRCm39) |
R51* |
probably null |
Het |
| Pet100 |
T |
C |
8: 3,672,370 (GRCm39) |
V15A |
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,778,869 (GRCm39) |
V75A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,725,935 (GRCm39) |
M1043K |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,832,984 (GRCm39) |
T413A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,287,635 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,462,530 (GRCm39) |
C4839S |
probably damaging |
Het |
| Scai |
A |
C |
2: 38,992,340 (GRCm39) |
D379E |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,288,198 (GRCm39) |
G197* |
probably null |
Het |
| Sdr39u1 |
A |
C |
14: 56,135,166 (GRCm39) |
I259S |
probably benign |
Het |
| Sp1 |
A |
T |
15: 102,339,318 (GRCm39) |
T733S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,255,051 (GRCm39) |
S1711P |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,124,975 (GRCm39) |
W240L |
probably damaging |
Het |
| Trarg1 |
T |
C |
11: 76,571,355 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,454 (GRCm39) |
K102R |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,619,827 (GRCm39) |
Y278H |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,878,731 (GRCm39) |
D1065V |
unknown |
Het |
| Vmn2r109 |
A |
C |
17: 20,784,796 (GRCm39) |
|
probably null |
Het |
| Zbed5 |
T |
C |
5: 129,932,210 (GRCm39) |
S720P |
possibly damaging |
Het |
| Zc3h3 |
A |
G |
15: 75,711,304 (GRCm39) |
S386P |
probably damaging |
Het |
| Zscan4-ps1 |
C |
T |
7: 10,802,418 (GRCm39) |
|
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 |
|
R6146:Slco1a5
|
UTSW |
6 |
142,180,534 (GRCm39) |
missense |
probably benign |
|
|
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'- CTTATTACCTCAGAAGAACCATGTACC -3'
(R):5'- ATAAAGAGGACACGTAGCCTGC -3'
Sequencing Primer
(F):5'- AACCATGTACCCAGGTATGGCTG -3'
(R):5'- CCAACTGGCTATGTAGACA -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation