Incidental Mutation 'R9422:Slco3a1'
ID 712379
Institutional Source Beutler Lab
Gene Symbol Slco3a1
Ensembl Gene ENSMUSG00000025790
Gene Name solute carrier organic anion transporter family, member 3a1
Synonyms OATP-D, Slc21a11, 5830414C08Rik, Anr1, MJAM
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R9422 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 73925167-74204528 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73946996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 576 (V576I)
Ref Sequence ENSEMBL: ENSMUSP00000026897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026897] [ENSMUST00000098371] [ENSMUST00000107453]
AlphaFold Q8R3L5
Predicted Effect probably damaging
Transcript: ENSMUST00000026897
AA Change: V576I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: V576I

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:MFS_1 44 455 1.2e-27 PFAM
KAZAL 474 509 2.77e-1 SMART
low complexity region 574 594 N/A INTRINSIC
transmembrane domain 626 648 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098371
AA Change: V576I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: V576I

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:MFS_1 44 456 1.2e-27 PFAM
KAZAL 474 509 2.77e-1 SMART
low complexity region 574 594 N/A INTRINSIC
transmembrane domain 626 648 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107453
AA Change: V576I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: V576I

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:MFS_1 45 456 2e-27 PFAM
KAZAL 474 509 2.77e-1 SMART
low complexity region 574 589 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,667,153 (GRCm39) V209I Het
Adamts18 T A 8: 114,501,910 (GRCm39) Y317F probably damaging Het
Adgrg6 C T 10: 14,302,740 (GRCm39) R863H probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ank2 C A 3: 126,890,505 (GRCm39) K55N unknown Het
B3galnt2 A G 13: 14,150,136 (GRCm39) T160A probably benign Het
Becn1 C A 11: 101,192,832 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,444 (GRCm39) N777S possibly damaging Het
Cd302 T C 2: 60,082,697 (GRCm39) Y209C probably damaging Het
Cfap69 A G 5: 5,699,851 (GRCm39) V63A probably benign Het
Clasp1 T A 1: 118,390,257 (GRCm39) I147N possibly damaging Het
Cmtm3 A T 8: 105,067,358 (GRCm39) probably benign Het
Cmtm3 G T 8: 105,067,359 (GRCm39) probably benign Het
Col15a1 A T 4: 47,293,364 (GRCm39) probably null Het
Csn3 A G 5: 88,077,872 (GRCm39) N126S probably benign Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Dctn1 T A 6: 83,170,691 (GRCm39) H729Q possibly damaging Het
Dop1a C T 9: 86,425,093 (GRCm39) H2138Y probably damaging Het
Fbxo2 T C 4: 148,248,616 (GRCm39) L36P unknown Het
Gzmg T A 14: 56,395,812 (GRCm39) Y49F probably benign Het
H2bc3 A G 13: 23,930,940 (GRCm39) I55V possibly damaging Het
Hivep1 A G 13: 42,313,213 (GRCm39) T1818A probably benign Het
Ipmk T C 10: 71,212,550 (GRCm39) S171P possibly damaging Het
Milr1 T A 11: 106,657,805 (GRCm39) Y239N probably damaging Het
Muc16 T C 9: 18,553,102 (GRCm39) N4397S probably benign Het
Nell1 C A 7: 49,712,387 (GRCm39) S69* probably null Het
Nme8 A G 13: 19,859,918 (GRCm39) V234A probably benign Het
Notch2 A G 3: 98,054,668 (GRCm39) S2444G probably damaging Het
Odad3 T A 9: 21,913,628 (GRCm39) H48L possibly damaging Het
Or5p75-ps1 A T 7: 108,108,155 (GRCm39) K297N unknown Het
Or7g35 T A 9: 19,495,968 (GRCm39) I45K probably damaging Het
Pex5l T C 3: 33,136,401 (GRCm39) probably benign Het
Pgm3 A T 9: 86,443,938 (GRCm39) L322H probably damaging Het
Plxna2 T A 1: 194,326,730 (GRCm39) F221L probably damaging Het
Pramel22 T A 4: 143,382,982 (GRCm39) K79M probably damaging Het
Prkaa2 A G 4: 104,909,195 (GRCm39) I83T probably benign Het
R3hdml A G 2: 163,334,526 (GRCm39) T39A probably benign Het
Ralgds A G 2: 28,435,184 (GRCm39) M447V probably benign Het
Rgs2 T C 1: 143,878,783 (GRCm39) D40G probably damaging Het
Robo3 T C 9: 37,329,789 (GRCm39) M1176V probably benign Het
Rpap1 G A 2: 119,613,519 (GRCm39) probably benign Het
Skic3 A T 13: 76,278,447 (GRCm39) probably benign Het
Slc26a8 T C 17: 28,857,560 (GRCm39) D861G possibly damaging Het
Slc4a8 A T 15: 100,698,469 (GRCm39) I705F probably benign Het
Socs7 A G 11: 97,253,973 (GRCm39) D169G possibly damaging Het
Tanc1 T C 2: 59,637,933 (GRCm39) V878A probably benign Het
Thop1 C T 10: 80,916,001 (GRCm39) R395W probably damaging Het
Tpp2 T A 1: 44,017,897 (GRCm39) H765Q probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r233 T A 17: 21,214,069 (GRCm39) M294L possibly damaging Het
Vmn1r27 T C 6: 58,192,867 (GRCm39) T46A probably benign Het
Vmn2r28 A G 7: 5,483,747 (GRCm39) S818P probably damaging Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Zfhx3 C T 8: 109,430,850 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,321 (GRCm39) M330V probably benign Het
Zhx1 T C 15: 57,916,071 (GRCm39) Y725C probably damaging Het
Zhx3 C T 2: 160,624,020 (GRCm39) S49N probably benign Het
Other mutations in Slco3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Slco3a1 APN 7 74,153,931 (GRCm39) missense probably damaging 1.00
IGL01124:Slco3a1 APN 7 73,934,295 (GRCm39) missense probably damaging 1.00
IGL01583:Slco3a1 APN 7 73,934,198 (GRCm39) missense probably benign 0.01
IGL01929:Slco3a1 APN 7 73,968,353 (GRCm39) splice site probably benign
IGL01991:Slco3a1 APN 7 73,934,144 (GRCm39) missense possibly damaging 0.84
IGL02380:Slco3a1 APN 7 74,204,238 (GRCm39) missense probably damaging 1.00
IGL03269:Slco3a1 APN 7 73,968,280 (GRCm39) missense possibly damaging 0.58
R0052:Slco3a1 UTSW 7 74,154,074 (GRCm39) missense probably benign 0.00
R0052:Slco3a1 UTSW 7 74,154,074 (GRCm39) missense probably benign 0.00
R0317:Slco3a1 UTSW 7 74,154,174 (GRCm39) missense probably damaging 1.00
R0545:Slco3a1 UTSW 7 73,970,301 (GRCm39) nonsense probably null
R0613:Slco3a1 UTSW 7 73,996,382 (GRCm39) unclassified probably benign
R1488:Slco3a1 UTSW 7 73,996,449 (GRCm39) missense possibly damaging 0.94
R1506:Slco3a1 UTSW 7 74,009,683 (GRCm39) splice site probably null
R1571:Slco3a1 UTSW 7 74,154,128 (GRCm39) missense possibly damaging 0.92
R1912:Slco3a1 UTSW 7 74,154,359 (GRCm39) missense probably damaging 1.00
R2011:Slco3a1 UTSW 7 73,996,419 (GRCm39) missense probably benign 0.08
R2382:Slco3a1 UTSW 7 73,996,524 (GRCm39) missense probably benign 0.00
R3735:Slco3a1 UTSW 7 74,154,245 (GRCm39) missense probably damaging 1.00
R3894:Slco3a1 UTSW 7 73,934,361 (GRCm39) missense probably damaging 1.00
R4151:Slco3a1 UTSW 7 74,009,586 (GRCm39) missense probably damaging 1.00
R4175:Slco3a1 UTSW 7 73,968,302 (GRCm39) missense probably damaging 0.97
R4303:Slco3a1 UTSW 7 74,204,276 (GRCm39) missense probably benign 0.03
R4462:Slco3a1 UTSW 7 74,204,311 (GRCm39) missense probably benign 0.18
R4702:Slco3a1 UTSW 7 73,970,315 (GRCm39) missense probably damaging 0.98
R4896:Slco3a1 UTSW 7 73,970,304 (GRCm39) missense probably null 1.00
R5419:Slco3a1 UTSW 7 73,934,363 (GRCm39) missense possibly damaging 0.77
R5561:Slco3a1 UTSW 7 73,968,247 (GRCm39) missense possibly damaging 0.67
R5597:Slco3a1 UTSW 7 73,934,210 (GRCm39) missense probably benign 0.31
R5698:Slco3a1 UTSW 7 73,996,566 (GRCm39) missense probably damaging 1.00
R6086:Slco3a1 UTSW 7 73,968,338 (GRCm39) missense possibly damaging 0.64
R6117:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6118:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6123:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6124:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6125:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R7147:Slco3a1 UTSW 7 74,154,042 (GRCm39) missense probably damaging 1.00
R7332:Slco3a1 UTSW 7 73,968,232 (GRCm39) missense possibly damaging 0.95
R7335:Slco3a1 UTSW 7 73,934,090 (GRCm39) missense probably damaging 0.99
R7646:Slco3a1 UTSW 7 74,154,344 (GRCm39) missense probably damaging 1.00
R7798:Slco3a1 UTSW 7 73,968,344 (GRCm39) missense probably benign 0.00
R8024:Slco3a1 UTSW 7 74,204,218 (GRCm39) missense probably benign 0.24
R8128:Slco3a1 UTSW 7 73,934,049 (GRCm39) missense probably damaging 1.00
R8184:Slco3a1 UTSW 7 74,009,577 (GRCm39) missense probably benign 0.01
R8192:Slco3a1 UTSW 7 73,970,338 (GRCm39) missense probably benign 0.13
R8279:Slco3a1 UTSW 7 73,934,144 (GRCm39) missense possibly damaging 0.84
R8511:Slco3a1 UTSW 7 73,952,990 (GRCm39) missense probably benign 0.33
R8732:Slco3a1 UTSW 7 73,934,054 (GRCm39) missense possibly damaging 0.47
R8933:Slco3a1 UTSW 7 73,934,248 (GRCm39) nonsense probably null
R8987:Slco3a1 UTSW 7 73,970,324 (GRCm39) missense possibly damaging 0.92
R9138:Slco3a1 UTSW 7 74,009,664 (GRCm39) missense probably damaging 1.00
R9177:Slco3a1 UTSW 7 73,952,946 (GRCm39) missense probably benign 0.40
R9268:Slco3a1 UTSW 7 73,952,946 (GRCm39) missense probably benign 0.40
R9310:Slco3a1 UTSW 7 74,204,236 (GRCm39) missense probably damaging 0.99
R9342:Slco3a1 UTSW 7 74,154,037 (GRCm39) missense probably damaging 1.00
R9347:Slco3a1 UTSW 7 73,934,153 (GRCm39) missense possibly damaging 0.89
R9556:Slco3a1 UTSW 7 74,201,905 (GRCm39) missense probably benign 0.00
R9560:Slco3a1 UTSW 7 74,153,931 (GRCm39) missense probably damaging 1.00
R9709:Slco3a1 UTSW 7 73,952,957 (GRCm39) missense possibly damaging 0.62
X0017:Slco3a1 UTSW 7 73,934,108 (GRCm39) missense probably benign 0.03
Z1176:Slco3a1 UTSW 7 73,925,762 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGTGGTGTCTGAACTTGAAATAAC -3'
(R):5'- TTGGCACCACAGTTGCAGC -3'

Sequencing Primer
(F):5'- GCCTTGACTTCTGGGAATAACAGAC -3'
(R):5'- CCACAGTTGCAGCCAATTTTTAGAC -3'
Posted On 2022-05-16