Incidental Mutation 'IGL02366:Slco1a5'
ID 290749
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 # IGL02366
Quality Score
Status
Chromosome 6
Chromosomal Location 142179953-142268707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142195941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 354 (V354D)
Ref Sequence ENSEMBL: ENSMUSP00000137607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081380] [ENSMUST00000111825] [ENSMUST00000128446] [ENSMUST00000153268]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000081380
AA Change: V354D

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: V354D

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 noncoding transcript
Transcript: ENSMUST00000111822
Predicted Effect possibly damaging
Transcript: ENSMUST00000111825
AA Change: V354D

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: V354D

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: ENSMUST00000128446
SMART Domains Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:OATP 1 157 6.1e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153268
SMART Domains Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:OATP 19 74 3.4e-16 PFAM
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,859 (GRCm39) H339L probably benign Het
Abcc1 T C 16: 14,285,843 (GRCm39) probably benign Het
Ankrd55 T C 13: 112,454,994 (GRCm39) Y3H probably damaging Het
Armcx4 A C X: 133,592,261 (GRCm39) K723T possibly damaging Het
Brinp3 T A 1: 146,577,481 (GRCm39) V172D possibly damaging Het
Cemip C T 7: 83,592,849 (GRCm39) R1226Q probably benign Het
Cntn5 A T 9: 9,984,060 (GRCm39) probably benign Het
Cyld T C 8: 89,456,381 (GRCm39) V474A probably damaging Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Efhc1 A G 1: 21,030,486 (GRCm39) N140D probably damaging Het
Eif6 A G 2: 155,668,092 (GRCm39) V49A probably benign Het
Epha4 G T 1: 77,403,348 (GRCm39) Y386* probably null Het
Ggnbp2 T C 11: 84,732,427 (GRCm39) K222R probably damaging Het
Gm5117 T C 8: 32,227,887 (GRCm39) noncoding transcript Het
Gm5852 A T 3: 93,634,568 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,340,048 (GRCm39) V243A probably benign Het
Hal A G 10: 93,339,390 (GRCm39) N493S probably damaging Het
Insrr A G 3: 87,717,216 (GRCm39) T731A possibly damaging Het
Irs4 A T X: 140,506,900 (GRCm39) L432H probably damaging Het
Kdm4a T G 4: 118,017,703 (GRCm39) probably null Het
Lhx4 T C 1: 155,580,934 (GRCm39) D197G possibly damaging Het
Mllt10 T A 2: 18,069,898 (GRCm39) M18K probably damaging Het
Nars1 T C 18: 64,636,599 (GRCm39) T422A possibly damaging Het
Ncf2 A G 1: 152,710,824 (GRCm39) D445G probably benign Het
Ndor1 C A 2: 25,137,993 (GRCm39) G544V possibly damaging Het
Notch3 C A 17: 32,363,179 (GRCm39) R1268L probably benign Het
Or51ac3 A T 7: 103,213,622 (GRCm39) V288D probably damaging Het
Or5b117 T C 19: 13,431,491 (GRCm39) Y130C probably damaging Het
Or6c202 A T 10: 128,996,494 (GRCm39) Y120N probably damaging Het
Or8g2 T C 9: 39,821,288 (GRCm39) L63P probably damaging Het
Osgep T C 14: 51,157,407 (GRCm39) D72G probably damaging Het
Pank4 C T 4: 155,054,085 (GRCm39) T88I probably benign Het
Pcgf6 T C 19: 47,038,894 (GRCm39) E122G possibly damaging Het
Ppp1r21 A G 17: 88,855,090 (GRCm39) H123R probably damaging Het
Prex1 A C 2: 166,422,347 (GRCm39) L28R probably damaging Het
Rbl1 A T 2: 157,016,813 (GRCm39) N595K probably benign Het
Rnf148 T C 6: 23,654,058 (GRCm39) I313V probably benign Het
Rnf220 T C 4: 117,346,980 (GRCm39) N144S probably benign Het
Sbno2 G A 10: 79,900,036 (GRCm39) T577I probably damaging Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Slit2 A T 5: 48,461,410 (GRCm39) T1486S possibly damaging Het
Snd1 T C 6: 28,707,149 (GRCm39) probably benign Het
Sval3 T C 6: 41,946,659 (GRCm39) probably benign Het
Tmem94 T C 11: 115,688,258 (GRCm39) L1239P probably damaging Het
Trpm6 T C 19: 18,755,874 (GRCm39) probably benign Het
Ttc9 A C 12: 81,678,384 (GRCm39) D69A possibly damaging Het
Ttn A T 2: 76,593,580 (GRCm39) L20687M probably benign Het
Zfp748 T A 13: 67,693,546 (GRCm39) probably benign 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
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
R9619:Slco1a5 UTSW 6 142,198,846 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16