Incidental Mutation 'IGL02621:Slco1a5'
ID 300862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1a5
Ensembl Gene ENSMUSG00000063975
Gene Name solute carrier organic anion transporter family, member 1a5
Synonyms Slc21a7, Oatp3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02621
Quality Score
Status
Chromosome 6
Chromosomal Location 142179953-142268707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142187741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 533 (M533L)
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: M533L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: M533L

DomainStartEndE-ValueType
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: M533L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: M533L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:OATP 19 74 3.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157614
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Esrrb A G 12: 86,468,735 (GRCm39) N16S probably benign Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Hint1 G T 11: 54,761,011 (GRCm39) probably benign Het
Itch A T 2: 155,014,504 (GRCm39) probably null Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Mapk4 A T 18: 74,103,346 (GRCm39) S54R probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pamr1 A G 2: 102,464,688 (GRCm39) N279S probably benign Het
Pcca A T 14: 122,922,391 (GRCm39) D384V probably damaging Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Slco1a5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9619:Slco1a5 UTSW 6 142,198,846 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16