Incidental Mutation 'R2084:Slco1a5'
ID |
230199 |
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 |
040089-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2084 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142180437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 655
(H655R)
|
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: H655R
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000080116 Gene: ENSMUSG00000063975 AA Change: H655R
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: H655R
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000137607 Gene: ENSMUSG00000063975 AA Change: H655R
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
C |
T |
11: 5,612,378 (GRCm39) |
Q1237* |
probably null |
Het |
Aph1c |
T |
G |
9: 66,726,579 (GRCm39) |
R258S |
probably damaging |
Het |
Arfgap3 |
T |
A |
15: 83,218,767 (GRCm39) |
N102I |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,299,978 (GRCm39) |
V106A |
probably damaging |
Het |
BC005537 |
G |
T |
13: 24,996,698 (GRCm39) |
|
probably null |
Het |
Card10 |
G |
A |
15: 78,677,171 (GRCm39) |
T412M |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,140,919 (GRCm39) |
I126M |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,558,171 (GRCm38) |
D138G |
probably damaging |
Het |
Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,365 (GRCm39) |
D153G |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,227,438 (GRCm39) |
I193F |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,411,667 (GRCm39) |
|
probably null |
Het |
Efemp1 |
A |
G |
11: 28,865,763 (GRCm39) |
D288G |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
G |
A |
7: 27,856,960 (GRCm39) |
V2103M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,537 (GRCm39) |
F262L |
probably benign |
Het |
Gh |
G |
A |
11: 106,191,958 (GRCm39) |
P84L |
probably damaging |
Het |
Gm10267 |
T |
C |
18: 44,290,397 (GRCm39) |
R37G |
probably benign |
Het |
Hmgxb3 |
C |
T |
18: 61,288,095 (GRCm39) |
|
probably benign |
Het |
Ifit2 |
T |
C |
19: 34,550,750 (GRCm39) |
W97R |
probably damaging |
Het |
Ift81 |
T |
G |
5: 122,705,410 (GRCm39) |
K491Q |
probably benign |
Het |
Ints8 |
A |
G |
4: 11,230,377 (GRCm39) |
V488A |
probably benign |
Het |
Krba1 |
T |
A |
6: 48,391,502 (GRCm39) |
L797Q |
probably damaging |
Het |
Krr1 |
T |
C |
10: 111,812,690 (GRCm39) |
V100A |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,535,158 (GRCm39) |
|
probably benign |
Het |
Nos1 |
C |
A |
5: 118,081,310 (GRCm39) |
Q1205K |
probably damaging |
Het |
Nup85 |
A |
T |
11: 115,459,517 (GRCm39) |
D125V |
possibly damaging |
Het |
Or5ak23 |
T |
C |
2: 85,244,959 (GRCm39) |
E88G |
probably benign |
Het |
Pclo |
T |
G |
5: 14,732,162 (GRCm39) |
S3555A |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,131,256 (GRCm39) |
I473V |
probably benign |
Het |
Polr1a |
A |
G |
6: 71,927,793 (GRCm39) |
E848G |
possibly damaging |
Het |
Pop1 |
T |
C |
15: 34,508,744 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,425,920 (GRCm39) |
T8S |
probably damaging |
Het |
Prpf3 |
C |
T |
3: 95,756,301 (GRCm39) |
E117K |
probably benign |
Het |
Psmg3 |
C |
T |
5: 139,809,744 (GRCm39) |
V101M |
probably benign |
Het |
Rexo1 |
G |
A |
10: 80,397,100 (GRCm39) |
S52L |
probably benign |
Het |
Ryk |
C |
T |
9: 102,752,971 (GRCm39) |
T210M |
probably damaging |
Het |
Sde2 |
A |
G |
1: 180,690,198 (GRCm39) |
E306G |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,741,347 (GRCm39) |
Q658R |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,433,266 (GRCm39) |
T183I |
probably damaging |
Het |
Skint7 |
T |
A |
4: 111,837,375 (GRCm39) |
V51E |
probably damaging |
Het |
Slc6a5 |
T |
A |
7: 49,598,002 (GRCm39) |
M622K |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,505,578 (GRCm39) |
Y452* |
probably null |
Het |
Spn |
T |
C |
7: 126,736,210 (GRCm39) |
E99G |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,940,011 (GRCm39) |
I789V |
probably benign |
Het |
Taok2 |
G |
A |
7: 126,469,363 (GRCm39) |
T1155I |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,528 (GRCm39) |
Q302R |
possibly damaging |
Het |
Trmt1l |
A |
G |
1: 151,316,605 (GRCm39) |
T189A |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,978,192 (GRCm39) |
I36T |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,267,945 (GRCm39) |
Y133F |
probably benign |
Het |
Vps11 |
G |
T |
9: 44,264,558 (GRCm39) |
H673N |
probably benign |
Het |
Zc3h12a |
C |
T |
4: 125,013,802 (GRCm39) |
S354N |
probably benign |
Het |
Zfp2 |
A |
G |
11: 50,791,789 (GRCm39) |
S85P |
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 |
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 |
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACTAGAATGAGTGAGCACC -3'
(R):5'- GCATTTATCTAGTGTTGCCTGC -3'
Sequencing Primer
(F):5'- CTCCTGAGGATGAGACAGTGAC -3'
(R):5'- GCCTGCAGCACTAAGAGGATC -3'
|
Posted On |
2014-09-18 |