Incidental Mutation 'IGL02752:Slco1a5'
ID 304209
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 Oatp3, Slc21a7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02752
Quality Score
Status
Chromosome 6
Chromosomal Location 142234227-142322981 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142262712 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 76 (T76A)
Ref Sequence ENSEMBL: ENSMUSP00000124987 (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: T118A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: T118A

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 probably benign
Transcript: ENSMUST00000111825
AA Change: T118A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: T118A

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
AA Change: T76A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: T76A

DomainStartEndE-ValueType
Pfam:OATP 1 157 6.1e-67 PFAM
Predicted Effect silent
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,955,841 E145* probably null Het
Abca9 A G 11: 110,127,368 F1142S probably damaging Het
Bod1l T C 5: 41,816,463 T2503A possibly damaging Het
Bpi A G 2: 158,262,424 D149G probably damaging Het
Cntnap5a A G 1: 116,580,531 T1258A probably benign Het
Col4a3 A G 1: 82,660,225 D256G unknown Het
Cul5 T C 9: 53,634,978 T338A probably damaging Het
Efs A G 14: 54,917,423 V453A probably damaging Het
Fbxw19 T A 9: 109,494,641 N89Y probably benign Het
Fbxw8 A G 5: 118,142,750 F114S probably damaging Het
Flnb A G 14: 7,917,338 I1606V probably benign Het
Gpr158 A G 2: 21,826,827 T913A possibly damaging Het
Gtf2f1 A T 17: 57,009,682 probably benign Het
Gtf2ird1 T A 5: 134,358,824 *1059L probably null Het
Hmgb4 T C 4: 128,260,341 K145E probably damaging Het
Igf2bp2 T A 16: 22,080,110 M250L probably benign Het
Igkv14-111 A G 6: 68,256,577 K21E probably benign Het
Il6st C T 13: 112,480,195 T92I probably damaging Het
Jak3 G T 8: 71,682,951 V581L possibly damaging Het
Kank2 C T 9: 21,795,033 V230M probably damaging Het
Kif1a G A 1: 93,039,847 A1123V possibly damaging Het
Kpna4 T A 3: 69,095,530 R125* probably null Het
Mybpc3 A T 2: 91,132,637 probably null Het
Ntn4 T C 10: 93,710,559 V358A possibly damaging Het
Pacsin1 A T 17: 27,702,698 probably null Het
Pcsk2 A G 2: 143,773,945 N221S probably benign Het
Pik3cg A G 12: 32,204,263 L575P probably damaging Het
Pkhd1 A T 1: 20,553,591 V760E possibly damaging Het
Plxnc1 T C 10: 94,794,680 probably null Het
Ppfia1 T C 7: 144,519,604 T217A probably benign Het
Rictor A G 15: 6,787,371 T1375A probably benign Het
Scn1a A G 2: 66,331,412 I264T probably damaging Het
Sez6l2 T C 7: 126,953,733 S164P probably damaging Het
Slc31a1 C T 4: 62,385,632 probably benign Het
Slc45a1 T C 4: 150,638,021 N469D probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stfa3 G A 16: 36,450,637 T95I probably damaging Het
Stk11ip A C 1: 75,524,681 probably null Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Traf1 A G 2: 34,958,008 S25P probably benign Het
Ttn G T 2: 76,791,781 probably benign Het
Wdfy4 A T 14: 33,076,326 I2041N probably damaging Het
Zfp512b A T 2: 181,588,071 D556E possibly damaging Het
Zfpm2 T A 15: 41,102,019 D633E probably benign Het
Other mutations in Slco1a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Slco1a5 APN 6 142242150 missense probably benign 0.00
IGL01432:Slco1a5 APN 6 142236286 missense possibly damaging 0.59
IGL01590:Slco1a5 APN 6 142250319 missense probably benign 0.01
IGL01824:Slco1a5 APN 6 142253037 missense probably benign 0.01
IGL01915:Slco1a5 APN 6 142243873 missense probably benign 0.00
IGL01945:Slco1a5 APN 6 142243989 critical splice acceptor site probably null
IGL02078:Slco1a5 APN 6 142254446 missense probably benign 0.30
IGL02178:Slco1a5 APN 6 142262688 nonsense probably null
IGL02366:Slco1a5 APN 6 142250215 missense possibly damaging 0.57
IGL02395:Slco1a5 APN 6 142275487 missense probably damaging 0.99
IGL02621:Slco1a5 APN 6 142242015 missense probably benign 0.10
IGL02940:Slco1a5 APN 6 142242005 missense probably damaging 1.00
IGL03065:Slco1a5 APN 6 142248843 splice site probably benign
IGL03377:Slco1a5 APN 6 142234766 missense probably benign 0.01
R0017:Slco1a5 UTSW 6 142236335 splice site probably benign
R0017:Slco1a5 UTSW 6 142236335 splice site probably benign
R0230:Slco1a5 UTSW 6 142236328 splice site probably benign
R0690:Slco1a5 UTSW 6 142268278 missense probably benign 0.24
R1217:Slco1a5 UTSW 6 142254374 missense probably damaging 0.98
R1900:Slco1a5 UTSW 6 142242063 missense probably benign 0.44
R2084:Slco1a5 UTSW 6 142234711 missense probably benign 0.32
R2393:Slco1a5 UTSW 6 142248775 missense possibly damaging 0.85
R2414:Slco1a5 UTSW 6 142236250 missense probably damaging 1.00
R2760:Slco1a5 UTSW 6 142250271 missense probably benign 0.00
R3420:Slco1a5 UTSW 6 142268238 missense possibly damaging 0.61
R3421:Slco1a5 UTSW 6 142268238 missense possibly damaging 0.61
R3827:Slco1a5 UTSW 6 142253249 missense probably damaging 0.97
R3963:Slco1a5 UTSW 6 142248644 critical splice donor site probably null
R3977:Slco1a5 UTSW 6 142258972 splice site probably benign
R4074:Slco1a5 UTSW 6 142268224 missense possibly damaging 0.88
R4075:Slco1a5 UTSW 6 142268224 missense possibly damaging 0.88
R4076:Slco1a5 UTSW 6 142268224 missense possibly damaging 0.88
R4782:Slco1a5 UTSW 6 142248807 missense possibly damaging 0.82
R4799:Slco1a5 UTSW 6 142248807 missense possibly damaging 0.82
R4831:Slco1a5 UTSW 6 142234705 missense probably benign
R5038:Slco1a5 UTSW 6 142262637 missense probably benign 0.01
R5038:Slco1a5 UTSW 6 142266364 missense probably damaging 1.00
R5063:Slco1a5 UTSW 6 142259065 missense probably damaging 1.00
R5273:Slco1a5 UTSW 6 142242098 missense probably benign 0.00
R5436:Slco1a5 UTSW 6 142254392 missense probably damaging 1.00
R5579:Slco1a5 UTSW 6 142242125 missense possibly damaging 0.93
R5602:Slco1a5 UTSW 6 142275529 start gained probably benign
R5643:Slco1a5 UTSW 6 142237594 splice site probably null
R5644:Slco1a5 UTSW 6 142237594 splice site probably null
R5686:Slco1a5 UTSW 6 142236307 missense probably damaging 1.00
R5699:Slco1a5 UTSW 6 142248816 missense probably damaging 0.96
R5792:Slco1a5 UTSW 6 142242113 missense probably damaging 1.00
R5938:Slco1a5 UTSW 6 142248717 missense probably damaging 0.97
R5997:Slco1a5 UTSW 6 142253113 missense probably benign 0.19
R6146:Slco1a5 UTSW 6 142234808 missense probably benign
R6377:Slco1a5 UTSW 6 142242180 splice site probably null
R6466:Slco1a5 UTSW 6 142237534 missense probably benign 0.01
R6523:Slco1a5 UTSW 6 142266395 missense probably damaging 1.00
R7092:Slco1a5 UTSW 6 142248675 missense probably benign
R7207:Slco1a5 UTSW 6 142248749 nonsense probably null
R7356:Slco1a5 UTSW 6 142234732 missense probably benign 0.01
R7430:Slco1a5 UTSW 6 142248712 missense probably benign 0.00
R7445:Slco1a5 UTSW 6 142259008 missense possibly damaging 0.93
R7499:Slco1a5 UTSW 6 142262531 splice site probably null
R7579:Slco1a5 UTSW 6 142275481 missense probably benign 0.00
R8117:Slco1a5 UTSW 6 142262692 missense probably damaging 1.00
R8209:Slco1a5 UTSW 6 142262682 missense probably damaging 1.00
R8217:Slco1a5 UTSW 6 142275476 missense probably benign 0.13
R8358:Slco1a5 UTSW 6 142262685 missense probably benign 0.45
R8710:Slco1a5 UTSW 6 142253102 missense probably benign 0.03
R9071:Slco1a5 UTSW 6 142250326 missense possibly damaging 0.50
R9316:Slco1a5 UTSW 6 142250209 missense probably damaging 0.99
R9427:Slco1a5 UTSW 6 142268275 missense probably damaging 0.98
R9619:Slco1a5 UTSW 6 142253120 missense probably benign 0.13
Posted On 2015-04-16