Incidental Mutation 'R9619:Slco1a5'
| ID |
726584 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R9619 (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 C
at 142198846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 273
(E273G)
|
| 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 benign
Transcript: ENSMUST00000081380
AA Change: E273G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: E273G
| 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: E273G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: E273G
| 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: ENSMUST00000128446
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,101,566 (GRCm39) |
L1033P |
probably damaging |
Het |
| Agrn |
A |
G |
4: 156,258,490 (GRCm39) |
I992T |
probably benign |
Het |
| Akap9 |
A |
T |
5: 4,094,833 (GRCm39) |
E2209V |
probably damaging |
Het |
| Arfip1 |
C |
T |
3: 84,435,081 (GRCm39) |
G76E |
probably benign |
Het |
| Arsk |
T |
C |
13: 76,223,151 (GRCm39) |
T149A |
probably damaging |
Het |
| Caap1 |
A |
G |
4: 94,444,718 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,385,965 (GRCm39) |
V2105A |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,827 (GRCm39) |
F571S |
probably benign |
Het |
| Crx |
A |
T |
7: 15,602,185 (GRCm39) |
D164E |
probably benign |
Het |
| Csgalnact1 |
A |
G |
8: 68,854,006 (GRCm39) |
V265A |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,662 (GRCm39) |
R1051Q |
probably benign |
Het |
| Dld |
A |
T |
12: 31,382,390 (GRCm39) |
L471* |
probably null |
Het |
| Dmrtb1 |
G |
T |
4: 107,540,847 (GRCm39) |
H171Q |
probably benign |
Het |
| Dnajc12 |
G |
A |
10: 63,233,075 (GRCm39) |
R72Q |
probably damaging |
Het |
| Dpf1 |
A |
G |
7: 29,012,618 (GRCm39) |
H237R |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,416,499 (GRCm39) |
L800Q |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,292 (GRCm39) |
L322Q |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,026 (GRCm39) |
V149A |
probably benign |
Het |
| Efhc1 |
G |
A |
1: 21,037,603 (GRCm39) |
R260H |
probably benign |
Het |
| Emp2 |
G |
T |
16: 10,102,420 (GRCm39) |
Q131K |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,594,249 (GRCm39) |
I593T |
possibly damaging |
Het |
| Fbln5 |
A |
C |
12: 101,723,552 (GRCm39) |
I383S |
probably damaging |
Het |
| Foxq1 |
A |
T |
13: 31,743,580 (GRCm39) |
E227D |
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,637 (GRCm38) |
N9K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,451,509 (GRCm39) |
N199S |
probably damaging |
Het |
| Ifna16 |
T |
G |
4: 88,594,762 (GRCm39) |
D111A |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,092,552 (GRCm39) |
D793G |
probably benign |
Het |
| Igfbp5 |
A |
G |
1: 72,901,543 (GRCm39) |
V270A |
probably benign |
Het |
| Kif20b |
A |
C |
19: 34,933,429 (GRCm39) |
D1345A |
probably damaging |
Het |
| Klhl9 |
T |
C |
4: 88,639,062 (GRCm39) |
H393R |
probably benign |
Het |
| Lad1 |
G |
T |
1: 135,755,521 (GRCm39) |
A266S |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,064,282 (GRCm39) |
L1233P |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,015,284 (GRCm39) |
I52T |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,443,871 (GRCm39) |
F599L |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,628,478 (GRCm39) |
D703G |
possibly damaging |
Het |
| Nexmif |
C |
T |
X: 103,129,841 (GRCm39) |
R692H |
possibly damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,252,470 (GRCm39) |
G183D |
probably damaging |
Het |
| Or2z8 |
T |
C |
8: 72,811,605 (GRCm39) |
L27S |
probably damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,140 (GRCm39) |
I113F |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,037,261 (GRCm39) |
T182A |
possibly damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,622,282 (GRCm39) |
C1084S |
possibly damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,316 (GRCm39) |
N366D |
probably benign |
Het |
| Prr16 |
T |
A |
18: 51,435,797 (GRCm39) |
I92K |
possibly damaging |
Het |
| Rbm39 |
A |
T |
2: 156,001,117 (GRCm39) |
N312K |
probably damaging |
Het |
| Rps10 |
G |
A |
17: 27,849,459 (GRCm39) |
R160C |
probably benign |
Het |
| Scrg1 |
G |
T |
8: 57,927,363 (GRCm39) |
V5L |
unknown |
Het |
| Slc39a4 |
T |
A |
15: 76,497,874 (GRCm39) |
H408L |
probably damaging |
Het |
| Syne1 |
A |
C |
10: 5,090,909 (GRCm39) |
V815G |
probably benign |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Treml1 |
T |
A |
17: 48,672,006 (GRCm39) |
F167I |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,480,562 (GRCm39) |
V333A |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,053 (GRCm39) |
F346L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,622 (GRCm39) |
Y412F |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,926,136 (GRCm39) |
N547S |
probably damaging |
Het |
| Vopp1 |
G |
A |
6: 57,731,617 (GRCm39) |
P125S |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,766,779 (GRCm39) |
F492S |
probably damaging |
Het |
| Zfp114 |
A |
G |
7: 23,880,077 (GRCm39) |
E142G |
probably benign |
Het |
| Zfp715 |
A |
C |
7: 42,949,104 (GRCm39) |
Y285* |
probably null |
Het |
| Zwilch |
A |
G |
9: 64,057,440 (GRCm39) |
V442A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCACAAGTGACAAGTGC -3'
(R):5'- GGAACTCCAGAGCTCTTTCTTC -3'
Sequencing Primer
(F):5'- AGTGACAAGTGCCCACTG -3'
(R):5'- AGGTTTCAATTAGACCCTGATGG -3'
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| Posted On |
2022-10-06 |
Incidental Mutation