Incidental Mutation 'IGL01982:Slco4a1'
ID 182788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco4a1
Ensembl Gene ENSMUSG00000038963
Gene Name solute carrier organic anion transporter family, member 4a1
Synonyms Slc21a12, OATP-E
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01982
Quality Score
Status
Chromosome 2
Chromosomal Location 180456245-180474867 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180473153 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 623 (V623A)
Ref Sequence ENSEMBL: ENSMUSP00000046502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038225] [ENSMUST00000038259]
AlphaFold Q8K078
Predicted Effect probably benign
Transcript: ENSMUST00000038225
AA Change: V623A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: V623A

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:OATP 103 665 5.7e-168 PFAM
Pfam:MFS_1 105 496 3e-15 PFAM
Pfam:Kazal_2 512 555 1.1e-7 PFAM
transmembrane domain 668 690 N/A INTRINSIC
low complexity region 701 718 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038259
AA Change: V623A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: V623A

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
Pfam:OATP 101 666 2.8e-172 PFAM
Pfam:MFS_1 105 496 2.5e-15 PFAM
Pfam:Kazal_2 512 555 7.7e-8 PFAM
transmembrane domain 668 690 N/A INTRINSIC
low complexity region 701 718 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139902
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T G 17: 33,066,315 (GRCm38) E504D probably benign Het
Abca12 A C 1: 71,346,698 (GRCm38) S254A probably benign Het
Abca7 T G 10: 80,002,641 (GRCm38) L583R probably damaging Het
Acp1 A T 12: 30,911,492 (GRCm38) L14H possibly damaging Het
Adar A G 3: 89,738,090 (GRCm38) I3V probably benign Het
Adh4 C T 3: 138,429,027 (GRCm38) probably benign Het
Aldh1l1 A G 6: 90,559,863 (GRCm38) I103V probably benign Het
Asic3 C A 5: 24,417,721 (GRCm38) T523N probably benign Het
Aspm T C 1: 139,491,588 (GRCm38) V1732A probably benign Het
Atad3a C T 4: 155,753,927 (GRCm38) R211Q possibly damaging Het
Bahcc1 A G 11: 120,287,473 (GRCm38) Y2286C probably damaging Het
BC034090 T C 1: 155,223,332 (GRCm38) E569G probably damaging Het
Bpifb3 A G 2: 153,925,601 (GRCm38) N237S probably benign Het
Bysl C A 17: 47,611,071 (GRCm38) probably null Het
C2cd6 T C 1: 59,067,773 (GRCm38) probably benign Het
Ccdc141 A G 2: 77,030,659 (GRCm38) F925L probably damaging Het
Cdca2 A T 14: 67,677,719 (GRCm38) V697E probably damaging Het
Cers1 A G 8: 70,323,431 (GRCm38) D324G probably damaging Het
Ctsq C T 13: 61,039,521 (GRCm38) C11Y probably benign Het
Ctsq T A 13: 61,038,918 (GRCm38) I91F probably benign Het
Cyp11b1 T C 15: 74,839,403 (GRCm38) N142S possibly damaging Het
Cyp3a59 G T 5: 146,104,735 (GRCm38) S363I probably benign Het
Eps15l1 A T 8: 72,379,075 (GRCm38) D567E probably benign Het
Esf1 G A 2: 140,164,528 (GRCm38) A233V probably benign Het
Fras1 A T 5: 96,739,248 (GRCm38) I2630F possibly damaging Het
Fyb A T 15: 6,580,177 (GRCm38) E77V probably null Het
Gjb6 C A 14: 57,124,573 (GRCm38) W77L probably damaging Het
Gm21983 A G 7: 27,180,278 (GRCm38) V88A possibly damaging Het
Gm8247 A G 14: 44,585,631 (GRCm38) T52A probably damaging Het
Gpr108 T C 17: 57,237,877 (GRCm38) K329E probably damaging Het
Gpr141 T A 13: 19,751,738 (GRCm38) H289L probably benign Het
Ilvbl T C 10: 78,579,022 (GRCm38) Y240H probably damaging Het
Kntc1 G A 5: 123,809,096 (GRCm38) A1868T probably benign Het
Lrmda A C 14: 22,584,482 (GRCm38) N112T probably damaging Het
Ly75 T C 2: 60,311,764 (GRCm38) Y1334C probably damaging Het
Macc1 C A 12: 119,445,634 (GRCm38) P46T probably benign Het
Madd A T 2: 91,175,707 (GRCm38) F381Y probably damaging Het
Map3k20 C T 2: 72,298,333 (GRCm38) Q38* probably null Het
Mcm4 A T 16: 15,630,420 (GRCm38) D424E possibly damaging Het
Micu1 T A 10: 59,863,278 (GRCm38) M463K possibly damaging Het
Mkrn2os A G 6: 115,585,531 (GRCm38) L157P probably damaging Het
Nectin2 A G 7: 19,717,562 (GRCm38) S516P probably damaging Het
Nme5 T A 18: 34,569,875 (GRCm38) D120V probably damaging Het
Npy4r T C 14: 34,147,325 (GRCm38) N2S possibly damaging Het
Nup107 A T 10: 117,759,340 (GRCm38) probably benign Het
Omd T C 13: 49,589,497 (GRCm38) Y8H possibly damaging Het
Ppp1r15a T C 7: 45,524,379 (GRCm38) probably benign Het
Ppp2ca T C 11: 52,099,064 (GRCm38) F6L probably benign Het
Rab1a T C 11: 20,224,717 (GRCm38) S97P probably benign Het
Ranbp3l G A 15: 9,058,746 (GRCm38) G359R probably damaging Het
Rnf213 A T 11: 119,443,268 (GRCm38) H3101L probably damaging Het
Slc27a4 T C 2: 29,812,615 (GRCm38) F509S probably damaging Het
Spg20 T A 3: 55,128,490 (GRCm38) probably null Het
Sptan1 A G 2: 30,019,968 (GRCm38) D1780G probably damaging Het
Tgm7 G T 2: 121,093,625 (GRCm38) Y605* probably null Het
Tmem106b T C 6: 13,071,969 (GRCm38) probably benign Het
Trak2 G A 1: 58,926,655 (GRCm38) A120V possibly damaging Het
Trappc8 G A 18: 20,874,712 (GRCm38) probably benign Het
Trim66 T C 7: 109,458,763 (GRCm38) T973A probably benign Het
Ttyh3 C A 5: 140,636,074 (GRCm38) probably benign Het
Ugt2b37 A C 5: 87,242,432 (GRCm38) I385S probably damaging Het
Usf3 A G 16: 44,218,817 (GRCm38) N1220S possibly damaging Het
Utrn A T 10: 12,748,029 (GRCm38) I155N probably damaging Het
Vps13b C T 15: 35,438,904 (GRCm38) Q377* probably null Het
Washc2 A T 6: 116,236,189 (GRCm38) E570D probably benign Het
Wscd1 T C 11: 71,766,873 (GRCm38) V168A possibly damaging Het
Zfp386 T A 12: 116,059,168 (GRCm38) C169S probably benign Het
Other mutations in Slco4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Slco4a1 APN 2 180,464,679 (GRCm38) missense probably damaging 1.00
IGL02297:Slco4a1 APN 2 180,464,489 (GRCm38) missense probably benign 0.16
IGL02368:Slco4a1 APN 2 180,473,128 (GRCm38) missense probably damaging 0.98
conduit UTSW 2 180,473,615 (GRCm38) missense probably damaging 1.00
ingress UTSW 2 180,465,677 (GRCm38) missense probably benign
R1621:Slco4a1 UTSW 2 180,471,132 (GRCm38) missense probably benign 0.01
R2275:Slco4a1 UTSW 2 180,464,736 (GRCm38) missense possibly damaging 0.94
R2472:Slco4a1 UTSW 2 180,467,087 (GRCm38) missense probably damaging 1.00
R3851:Slco4a1 UTSW 2 180,464,091 (GRCm38) missense probably benign 0.00
R3852:Slco4a1 UTSW 2 180,464,091 (GRCm38) missense probably benign 0.00
R4271:Slco4a1 UTSW 2 180,474,210 (GRCm38) missense possibly damaging 0.85
R4439:Slco4a1 UTSW 2 180,472,662 (GRCm38) missense probably benign 0.02
R4571:Slco4a1 UTSW 2 180,464,378 (GRCm38) missense probably benign 0.32
R4732:Slco4a1 UTSW 2 180,473,615 (GRCm38) missense probably damaging 1.00
R4733:Slco4a1 UTSW 2 180,473,615 (GRCm38) missense probably damaging 1.00
R4925:Slco4a1 UTSW 2 180,472,056 (GRCm38) missense probably benign 0.35
R5156:Slco4a1 UTSW 2 180,472,779 (GRCm38) missense probably benign 0.01
R5186:Slco4a1 UTSW 2 180,473,108 (GRCm38) missense probably damaging 1.00
R5252:Slco4a1 UTSW 2 180,464,459 (GRCm38) missense possibly damaging 0.48
R5426:Slco4a1 UTSW 2 180,471,235 (GRCm38) missense possibly damaging 0.84
R5470:Slco4a1 UTSW 2 180,474,114 (GRCm38) missense probably benign 0.00
R5512:Slco4a1 UTSW 2 180,474,114 (GRCm38) missense possibly damaging 0.91
R6969:Slco4a1 UTSW 2 180,464,808 (GRCm38) missense probably benign
R7133:Slco4a1 UTSW 2 180,472,063 (GRCm38) missense possibly damaging 0.93
R7249:Slco4a1 UTSW 2 180,464,811 (GRCm38) missense probably benign 0.01
R7357:Slco4a1 UTSW 2 180,472,137 (GRCm38) missense probably benign 0.00
R7442:Slco4a1 UTSW 2 180,474,126 (GRCm38) missense probably benign
R7599:Slco4a1 UTSW 2 180,471,255 (GRCm38) missense probably benign
R7750:Slco4a1 UTSW 2 180,471,237 (GRCm38) missense probably benign 0.30
R7834:Slco4a1 UTSW 2 180,465,677 (GRCm38) missense probably benign
R8203:Slco4a1 UTSW 2 180,464,799 (GRCm38) missense probably damaging 0.96
R8504:Slco4a1 UTSW 2 180,464,799 (GRCm38) missense probably damaging 0.96
R9166:Slco4a1 UTSW 2 180,464,241 (GRCm38) missense probably benign 0.00
R9170:Slco4a1 UTSW 2 180,464,685 (GRCm38) missense probably benign 0.00
R9210:Slco4a1 UTSW 2 180,472,478 (GRCm38) missense probably damaging 1.00
R9455:Slco4a1 UTSW 2 180,473,577 (GRCm38) missense probably benign 0.05
R9516:Slco4a1 UTSW 2 180,474,150 (GRCm38) missense possibly damaging 0.93
Z1177:Slco4a1 UTSW 2 180,464,564 (GRCm38) nonsense probably null
Z1177:Slco4a1 UTSW 2 180,464,381 (GRCm38) missense possibly damaging 0.85
Posted On 2014-05-07