Incidental Mutation 'R1740:Slco6d1'
ID 200250
Institutional Source Beutler Lab
Gene Symbol Slco6d1
Ensembl Gene ENSMUSG00000026336
Gene Name solute carrier organic anion transporter family, member 6d1
Synonyms 4921511I05Rik
MMRRC Submission 039772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1740 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 98348849-98444716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98356097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 220 (I220M)
Ref Sequence ENSEMBL: ENSMUSP00000123850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027575] [ENSMUST00000160796] [ENSMUST00000162468]
AlphaFold Q9D5W6
Predicted Effect probably damaging
Transcript: ENSMUST00000027575
AA Change: I220M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: I220M

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: I220M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: I220M

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: I177M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336
AA Change: I177M

DomainStartEndE-ValueType
Pfam:OATP 64 313 2.1e-27 PFAM
Meta Mutation Damage Score 0.5364 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,549 (GRCm39) C417* probably null Het
4930548G14Rik G A 15: 46,488,885 (GRCm39) noncoding transcript Het
Abcc12 T A 8: 87,232,126 (GRCm39) K1311* probably null Het
Abcc12 T C 8: 87,236,400 (GRCm39) D1138G possibly damaging Het
Adam32 A G 8: 25,411,314 (GRCm39) S116P probably damaging Het
Arhgef26 C T 3: 62,331,004 (GRCm39) L39F probably damaging Het
Babam1 T C 8: 71,855,663 (GRCm39) I252T probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Ccdc61 G T 7: 18,637,862 (GRCm39) probably benign Het
Ccdc89 C T 7: 90,075,946 (GRCm39) S52F probably damaging Het
Cds2 T A 2: 132,144,133 (GRCm39) I320N possibly damaging Het
Cebpe T C 14: 54,949,399 (GRCm39) Y6C probably damaging Het
Cep250 T A 2: 155,815,276 (GRCm39) I598N probably damaging Het
Cep350 T A 1: 155,804,579 (GRCm39) I835F probably damaging Het
Ces3a T C 8: 105,775,317 (GRCm39) L22P probably damaging Het
Cfap221 T C 1: 119,873,558 (GRCm39) S490G probably benign Het
Cyp2j11 A G 4: 96,207,613 (GRCm39) V234A probably benign Het
Dgat1 T C 15: 76,386,929 (GRCm39) H399R probably damaging Het
Dnah10 A T 5: 124,850,254 (GRCm39) probably null Het
Ebpl T G 14: 61,578,656 (GRCm39) K193T probably benign Het
Entpd5 T C 12: 84,443,545 (GRCm39) N66S probably benign Het
Fcgbp G T 7: 27,800,674 (GRCm39) G1240V possibly damaging Het
Gabra5 A G 7: 57,071,590 (GRCm39) S209P probably benign Het
Glce A T 9: 61,977,815 (GRCm39) V23D probably damaging Het
Gm14226 GACTGTTAC GAC 2: 154,866,851 (GRCm39) probably benign Het
Gtf2h1 A G 7: 46,461,890 (GRCm39) N296S probably null Het
Herc6 T C 6: 57,629,050 (GRCm39) S654P probably benign Het
Kcnk3 A T 5: 30,779,321 (GRCm39) M124L possibly damaging Het
Lamb2 T G 9: 108,359,127 (GRCm39) V281G probably damaging Het
Lctl A T 9: 64,040,389 (GRCm39) D444V probably damaging Het
Mcm2 A G 6: 88,861,026 (GRCm39) F891L probably damaging Het
Mcub A T 3: 129,712,376 (GRCm39) H166Q probably benign Het
Mical2 G T 7: 111,933,043 (GRCm39) R739L probably benign Het
Mideas T C 12: 84,219,676 (GRCm39) E426G probably damaging Het
Mkrn2 G T 6: 115,590,330 (GRCm39) A229S probably damaging Het
Mmp7 A G 9: 7,695,278 (GRCm39) Y80C possibly damaging Het
Mpp2 T C 11: 101,953,222 (GRCm39) probably null Het
Msh6 C A 17: 88,293,150 (GRCm39) T635K possibly damaging Het
Mvd T A 8: 123,163,286 (GRCm39) T315S probably benign Het
Myocd C T 11: 65,109,347 (GRCm39) probably benign Het
Nav1 C T 1: 135,386,127 (GRCm39) probably null Het
Or4k48 T A 2: 111,476,214 (GRCm39) I43F probably damaging Het
Pde4b A T 4: 102,344,548 (GRCm39) D141V probably damaging Het
Pdgfrb A T 18: 61,214,905 (GRCm39) D978V possibly damaging Het
Prss55 T C 14: 64,313,129 (GRCm39) T252A probably damaging Het
Psd3 A T 8: 68,573,491 (GRCm39) V230E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptprn A G 1: 75,238,694 (GRCm39) V82A probably damaging Het
Ptpru G T 4: 131,520,989 (GRCm39) probably null Het
Raph1 T A 1: 60,558,183 (GRCm39) K258* probably null Het
Rnf25 A G 1: 74,637,886 (GRCm39) V28A probably damaging Het
Slc25a4 C T 8: 46,661,540 (GRCm39) V212M probably benign Het
Slc39a3 T C 10: 80,867,342 (GRCm39) S135G probably damaging Het
Smim19 G T 8: 22,963,544 (GRCm39) Y21* probably null Het
Speer4f1 A C 5: 17,683,759 (GRCm39) Y141S probably damaging Het
Srgap2 G A 1: 131,217,126 (GRCm39) P1062L probably benign Het
Stra8 A T 6: 34,904,654 (GRCm39) probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem40 A G 6: 115,715,960 (GRCm39) S76P probably benign Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Vmn1r128 A T 7: 21,083,869 (GRCm39) Q191L probably benign Het
Washc2 T A 6: 116,208,593 (GRCm39) probably benign 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
IGL02085:Slco6d1 APN 1 98,371,468 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGTGGACTATCCAGGGCATTACA -3'
(R):5'- CTCCCCATTCTCTCAGGGAAAGAGAAA -3'

Sequencing Primer
(F):5'- TGTCAGAACAGAATGCAAAGTATTG -3'
(R):5'- AAGCTTTTCAGTGACGTTTAGC -3'
Posted On 2014-05-23