Incidental Mutation 'R1316:Slco6d1'
ID 157534
Institutional Source Beutler Lab
Gene Symbol Slco6d1
Ensembl Gene ENSMUSG00000026336
Gene Name solute carrier organic anion transporter family, member 6d1
Synonyms 4921511I05Rik
MMRRC Submission 039382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1316 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 98348849-98444716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98394518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 401 (M401L)
Ref Sequence ENSEMBL: ENSMUSP00000123850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027575] [ENSMUST00000160796] [ENSMUST00000162468]
AlphaFold Q9D5W6
Predicted Effect probably benign
Transcript: ENSMUST00000027575
AA Change: M401L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: M401L

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 benign
Transcript: ENSMUST00000160796
AA Change: M401L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: M401L

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 benign
Transcript: ENSMUST00000162468
SMART Domains Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336

DomainStartEndE-ValueType
Pfam:OATP 64 313 2.1e-27 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Cmpk1 A G 4: 114,828,487 (GRCm39) probably benign Het
Col11a1 G A 3: 113,932,619 (GRCm39) probably null Het
Ears2 T C 7: 121,645,905 (GRCm39) T337A probably benign Het
Erbin T C 13: 103,977,742 (GRCm39) K605R possibly damaging Het
Irs3 T C 5: 137,642,703 (GRCm39) E245G probably damaging Het
Limch1 T C 5: 67,156,586 (GRCm39) I223T probably damaging Het
Lrp1b T C 2: 40,592,816 (GRCm39) T3768A probably benign Het
Notch4 G A 17: 34,786,444 (GRCm39) D195N probably damaging Het
Or5b109 T C 19: 13,211,803 (GRCm39) F63S probably damaging Het
Or7g25 T A 9: 19,160,035 (GRCm39) Q220L probably benign Het
Or8b12b T C 9: 37,684,039 (GRCm39) F28S possibly damaging Het
Or8u8 T C 2: 86,011,709 (GRCm39) S249G probably benign Het
Podxl2 A G 6: 88,826,199 (GRCm39) L369P probably benign Het
Rnf149 A G 1: 39,604,401 (GRCm39) *45Q probably null Het
Scart2 T C 7: 139,879,583 (GRCm39) V957A probably benign Het
Slc4a11 T A 2: 130,528,071 (GRCm39) E528V probably benign Het
Slc9a1 A G 4: 133,149,558 (GRCm39) R795G possibly damaging Het
Tiparp T G 3: 65,460,772 (GRCm39) F587C probably damaging Het
Vmn2r120 T C 17: 57,832,939 (GRCm39) Q80R 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
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
Predicted Primers PCR Primer
(F):5'- CCCATGCTTAGTGGCTTGATGGAAA -3'
(R):5'- AGTTATCTAGGAAGGCAGGCAGGAAT -3'

Sequencing Primer
(F):5'- GATGCCAAATTAGACAGTACTTACC -3'
(R):5'- AATGAGCTATATAAAGAGCACTGTG -3'
Posted On 2014-02-18