Incidental Mutation 'IGL02085:Slco6d1'
ID 283502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco6d1
Ensembl Gene ENSMUSG00000026336
Gene Name solute carrier organic anion transporter family, member 6d1
Synonyms 4921511I05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02085
Quality Score
Status
Chromosome 1
Chromosomal Location 98348849-98444716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98371468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 275 (P275T)
Ref Sequence ENSEMBL: ENSMUSP00000125258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027575] [ENSMUST00000160796] [ENSMUST00000162468]
AlphaFold Q9D5W6
Predicted Effect probably damaging
Transcript: ENSMUST00000027575
AA Change: P318T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: P318T

DomainStartEndE-ValueType
Pfam:MFS_1 86 463 1.8e-13 PFAM
KAZAL 483 527 2.3e0 SMART
low complexity region 558 572 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160796
AA Change: P318T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: P318T

DomainStartEndE-ValueType
Pfam:MFS_1 86 463 2.4e-13 PFAM
KAZAL 483 527 2.3e0 SMART
low complexity region 558 572 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162468
AA Change: P275T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336
AA Change: P275T

DomainStartEndE-ValueType
Pfam:OATP 64 313 2.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,192,854 (GRCm39) probably null Het
Akr1c14 T A 13: 4,128,035 (GRCm39) C145* probably null Het
Arhgef26 A G 3: 62,367,145 (GRCm39) probably benign Het
Asb9 A G X: 163,318,452 (GRCm39) M215V probably benign Het
Atoh8 C A 6: 72,212,157 (GRCm39) probably benign Het
Atp6v1b1 T A 6: 83,730,897 (GRCm39) probably benign Het
Cep97 T C 16: 55,735,868 (GRCm39) E310G probably damaging Het
Ctrc C T 4: 141,571,025 (GRCm39) D72N possibly damaging Het
Dnah2 A G 11: 69,349,011 (GRCm39) I2492T probably benign Het
Emilin2 A G 17: 71,582,144 (GRCm39) V194A probably damaging Het
Epb41l5 T C 1: 119,500,586 (GRCm39) T524A probably benign Het
Fam91a1 A G 15: 58,313,505 (GRCm39) N497S possibly damaging Het
Gabpb1 A T 2: 126,481,191 (GRCm39) C319* probably null Het
Galnt10 A G 11: 57,673,104 (GRCm39) T487A probably benign Het
Hecw2 T A 1: 53,981,961 (GRCm39) probably null Het
Hmg20a C T 9: 56,384,586 (GRCm39) Q119* probably null Het
Ifi44l A G 3: 151,468,477 (GRCm39) S18P unknown Het
Immt T A 6: 71,828,820 (GRCm39) V125E probably benign Het
Ints13 T C 6: 146,451,437 (GRCm39) probably benign Het
Lrp1b C T 2: 40,779,321 (GRCm39) G2574S probably benign Het
Myoc T C 1: 162,467,343 (GRCm39) C171R probably benign Het
Ncbp1 C T 4: 46,159,699 (GRCm39) T404M probably damaging Het
Npy6r A G 18: 44,408,998 (GRCm39) N140D probably damaging Het
Nrxn2 A T 19: 6,542,898 (GRCm39) M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 (GRCm39) P851L probably benign Het
Nutm2 T A 13: 50,627,829 (GRCm39) probably null Het
Or10ak8 A G 4: 118,773,947 (GRCm39) F239S probably damaging Het
Or2g25 A G 17: 37,970,579 (GRCm39) V215A probably benign Het
Or4f61 A C 2: 111,922,869 (GRCm39) M59R probably damaging Het
Padi2 T G 4: 140,654,468 (GRCm39) Y206* probably null Het
Pcdh19 A T X: 132,582,007 (GRCm39) Y766* probably null Het
Pde12 A G 14: 26,387,619 (GRCm39) probably benign Het
Ppl C T 16: 4,907,680 (GRCm39) G872R probably benign Het
Prkag3 C T 1: 74,787,971 (GRCm39) probably benign Het
Ptgfr T C 3: 151,541,437 (GRCm39) T24A probably benign Het
Rpe65 T C 3: 159,321,283 (GRCm39) V365A probably benign Het
Shank3 T C 15: 89,388,118 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,200 (GRCm39) T642A probably benign Het
Smarca1 G T X: 46,964,109 (GRCm39) Q343K probably damaging Het
Smoc2 A G 17: 14,567,495 (GRCm39) T180A possibly damaging Het
Tfrc G A 16: 32,440,004 (GRCm39) V406I probably benign Het
Tigit C T 16: 43,469,473 (GRCm39) G206D probably benign Het
Triobp G A 15: 78,858,497 (GRCm39) probably benign Het
Trmo T C 4: 46,380,217 (GRCm39) Y384C probably damaging Het
Vmn1r89 T A 7: 12,953,465 (GRCm39) I67N probably damaging Het
Wdr17 C A 8: 55,140,771 (GRCm39) E194* probably null Het
Other mutations in Slco6d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Slco6d1 APN 1 98,359,955 (GRCm39) splice site probably null
IGL00678:Slco6d1 APN 1 98,424,069 (GRCm39) missense probably benign 0.01
IGL00790:Slco6d1 APN 1 98,348,925 (GRCm39) utr 5 prime probably benign
IGL01694:Slco6d1 APN 1 98,427,570 (GRCm39) missense probably damaging 1.00
IGL02003:Slco6d1 APN 1 98,408,493 (GRCm39) missense probably damaging 1.00
IGL02059:Slco6d1 APN 1 98,374,531 (GRCm39) missense possibly damaging 0.95
IGL02683:Slco6d1 APN 1 98,408,397 (GRCm39) missense probably benign 0.05
IGL02736:Slco6d1 APN 1 98,356,036 (GRCm39) missense possibly damaging 0.55
IGL03279:Slco6d1 APN 1 98,394,405 (GRCm39) missense probably damaging 1.00
BB008:Slco6d1 UTSW 1 98,356,141 (GRCm39) missense probably damaging 1.00
BB018:Slco6d1 UTSW 1 98,356,141 (GRCm39) missense probably damaging 1.00
PIT4581001:Slco6d1 UTSW 1 98,351,050 (GRCm39) missense possibly damaging 0.46
R0326:Slco6d1 UTSW 1 98,418,359 (GRCm39) missense probably benign 0.02
R0359:Slco6d1 UTSW 1 98,394,422 (GRCm39) missense probably benign 0.21
R0554:Slco6d1 UTSW 1 98,394,422 (GRCm39) missense probably benign 0.21
R0589:Slco6d1 UTSW 1 98,427,472 (GRCm39) splice site probably benign
R0733:Slco6d1 UTSW 1 98,355,994 (GRCm39) nonsense probably null
R0883:Slco6d1 UTSW 1 98,349,124 (GRCm39) missense probably benign 0.00
R1316:Slco6d1 UTSW 1 98,394,518 (GRCm39) missense probably benign 0.02
R1370:Slco6d1 UTSW 1 98,350,819 (GRCm39) missense probably benign 0.01
R1401:Slco6d1 UTSW 1 98,418,341 (GRCm39) missense probably damaging 1.00
R1691:Slco6d1 UTSW 1 98,435,292 (GRCm39) missense probably benign 0.34
R1740:Slco6d1 UTSW 1 98,356,097 (GRCm39) missense probably damaging 1.00
R1767:Slco6d1 UTSW 1 98,418,274 (GRCm39) missense possibly damaging 0.90
R1827:Slco6d1 UTSW 1 98,348,941 (GRCm39) missense probably damaging 0.96
R2138:Slco6d1 UTSW 1 98,371,385 (GRCm39) missense probably benign 0.19
R2849:Slco6d1 UTSW 1 98,394,441 (GRCm39) missense probably benign 0.02
R3753:Slco6d1 UTSW 1 98,427,502 (GRCm39) missense probably damaging 0.99
R4066:Slco6d1 UTSW 1 98,391,571 (GRCm39) critical splice acceptor site probably benign
R4429:Slco6d1 UTSW 1 98,424,091 (GRCm39) missense possibly damaging 0.66
R4480:Slco6d1 UTSW 1 98,435,299 (GRCm39) nonsense probably null
R4656:Slco6d1 UTSW 1 98,350,928 (GRCm39) missense probably benign 0.06
R4810:Slco6d1 UTSW 1 98,350,979 (GRCm39) missense possibly damaging 0.83
R4814:Slco6d1 UTSW 1 98,350,899 (GRCm39) missense probably benign 0.15
R5389:Slco6d1 UTSW 1 98,371,369 (GRCm39) missense probably benign 0.00
R5504:Slco6d1 UTSW 1 98,349,064 (GRCm39) missense probably damaging 0.99
R5619:Slco6d1 UTSW 1 98,423,947 (GRCm39) missense probably damaging 1.00
R5688:Slco6d1 UTSW 1 98,408,493 (GRCm39) missense probably damaging 1.00
R5820:Slco6d1 UTSW 1 98,427,503 (GRCm39) missense probably damaging 0.97
R5878:Slco6d1 UTSW 1 98,391,561 (GRCm39) splice site probably benign
R6261:Slco6d1 UTSW 1 98,427,588 (GRCm39) missense probably benign 0.10
R6450:Slco6d1 UTSW 1 98,349,192 (GRCm39) missense probably benign 0.29
R6452:Slco6d1 UTSW 1 98,348,937 (GRCm39) missense probably benign 0.44
R7338:Slco6d1 UTSW 1 98,349,097 (GRCm39) missense probably benign 0.11
R7375:Slco6d1 UTSW 1 98,349,172 (GRCm39) missense probably damaging 1.00
R7456:Slco6d1 UTSW 1 98,349,082 (GRCm39) missense possibly damaging 0.66
R7567:Slco6d1 UTSW 1 98,425,252 (GRCm39) missense probably damaging 1.00
R7729:Slco6d1 UTSW 1 98,425,248 (GRCm39) missense probably damaging 0.98
R7931:Slco6d1 UTSW 1 98,356,141 (GRCm39) missense probably damaging 1.00
R8088:Slco6d1 UTSW 1 98,394,431 (GRCm39) missense possibly damaging 0.75
R9021:Slco6d1 UTSW 1 98,371,396 (GRCm39) missense probably benign 0.18
R9080:Slco6d1 UTSW 1 98,348,983 (GRCm39) missense probably benign 0.01
R9123:Slco6d1 UTSW 1 98,423,919 (GRCm39) missense probably damaging 1.00
R9310:Slco6d1 UTSW 1 98,427,619 (GRCm39) missense possibly damaging 0.71
Posted On 2015-04-16