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 OATP-E, Slc21a12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01982
Quality Score
Status
Chromosome 2
Chromosomal Location 180098038-180116660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180114946 bp (GRCm39)
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
Abca12 A C 1: 71,385,857 (GRCm39) S254A probably benign Het
Abca7 T G 10: 79,838,475 (GRCm39) L583R probably damaging Het
Acp1 A T 12: 30,961,491 (GRCm39) L14H possibly damaging Het
Adar A G 3: 89,645,397 (GRCm39) I3V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,536,845 (GRCm39) I103V probably benign Het
Asic3 C A 5: 24,622,719 (GRCm39) T523N probably benign Het
Aspm T C 1: 139,419,326 (GRCm39) V1732A probably benign Het
Atad3a C T 4: 155,838,384 (GRCm39) R211Q possibly damaging Het
Bahcc1 A G 11: 120,178,299 (GRCm39) Y2286C probably damaging Het
BC034090 T C 1: 155,099,078 (GRCm39) E569G probably damaging Het
Bpifb3 A G 2: 153,767,521 (GRCm39) N237S probably benign Het
Bysl C A 17: 47,921,996 (GRCm39) probably null Het
C2cd6 T C 1: 59,106,932 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,861,003 (GRCm39) F925L probably damaging Het
Cdca2 A T 14: 67,915,168 (GRCm39) V697E probably damaging Het
Cers1 A G 8: 70,776,081 (GRCm39) D324G probably damaging Het
Ctsq T A 13: 61,186,732 (GRCm39) I91F probably benign Het
Ctsq C T 13: 61,187,335 (GRCm39) C11Y probably benign Het
Cyp11b1 T C 15: 74,711,252 (GRCm39) N142S possibly damaging Het
Cyp3a59 G T 5: 146,041,545 (GRCm39) S363I probably benign Het
Eps15l1 A T 8: 73,132,919 (GRCm39) D567E probably benign Het
Esf1 G A 2: 140,006,448 (GRCm39) A233V probably benign Het
Fras1 A T 5: 96,887,107 (GRCm39) I2630F possibly damaging Het
Fyb1 A T 15: 6,609,658 (GRCm39) E77V probably null Het
Gjb6 C A 14: 57,362,030 (GRCm39) W77L probably damaging Het
Gm21983 A G 7: 26,879,703 (GRCm39) V88A possibly damaging Het
Gm8247 A G 14: 44,823,088 (GRCm39) T52A probably damaging Het
Gpr108 T C 17: 57,544,877 (GRCm39) K329E probably damaging Het
Gpr141 T A 13: 19,935,908 (GRCm39) H289L probably benign Het
Ilvbl T C 10: 78,414,856 (GRCm39) Y240H probably damaging Het
Kntc1 G A 5: 123,947,159 (GRCm39) A1868T probably benign Het
Lrmda A C 14: 22,634,550 (GRCm39) N112T probably damaging Het
Ly75 T C 2: 60,142,108 (GRCm39) Y1334C probably damaging Het
Macc1 C A 12: 119,409,369 (GRCm39) P46T probably benign Het
Madd A T 2: 91,006,052 (GRCm39) F381Y probably damaging Het
Map3k20 C T 2: 72,128,677 (GRCm39) Q38* probably null Het
Mcm4 A T 16: 15,448,284 (GRCm39) D424E possibly damaging Het
Micu1 T A 10: 59,699,100 (GRCm39) M463K possibly damaging Het
Mkrn2os A G 6: 115,562,492 (GRCm39) L157P probably damaging Het
Nectin2 A G 7: 19,451,487 (GRCm39) S516P probably damaging Het
Nme5 T A 18: 34,702,928 (GRCm39) D120V probably damaging Het
Npy4r T C 14: 33,869,282 (GRCm39) N2S possibly damaging Het
Nup107 A T 10: 117,595,245 (GRCm39) probably benign Het
Omd T C 13: 49,742,973 (GRCm39) Y8H possibly damaging Het
Phf8-ps T G 17: 33,285,289 (GRCm39) E504D probably benign Het
Ppp1r15a T C 7: 45,173,803 (GRCm39) probably benign Het
Ppp2ca T C 11: 51,989,891 (GRCm39) F6L probably benign Het
Rab1a T C 11: 20,174,717 (GRCm39) S97P probably benign Het
Ranbp3l G A 15: 9,058,827 (GRCm39) G359R probably damaging Het
Rnf213 A T 11: 119,334,094 (GRCm39) H3101L probably damaging Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Spart T A 3: 55,035,911 (GRCm39) probably null Het
Sptan1 A G 2: 29,909,980 (GRCm39) D1780G probably damaging Het
Tgm7 G T 2: 120,924,106 (GRCm39) Y605* probably null Het
Tmem106b T C 6: 13,071,968 (GRCm39) probably benign Het
Trak2 G A 1: 58,965,814 (GRCm39) A120V possibly damaging Het
Trappc8 G A 18: 21,007,769 (GRCm39) probably benign Het
Trim66 T C 7: 109,057,970 (GRCm39) T973A probably benign Het
Ttyh3 C A 5: 140,621,829 (GRCm39) probably benign Het
Ugt2b37 A C 5: 87,390,291 (GRCm39) I385S probably damaging Het
Usf3 A G 16: 44,039,180 (GRCm39) N1220S possibly damaging Het
Utrn A T 10: 12,623,773 (GRCm39) I155N probably damaging Het
Vps13b C T 15: 35,439,050 (GRCm39) Q377* probably null Het
Washc2 A T 6: 116,213,150 (GRCm39) E570D probably benign Het
Wscd1 T C 11: 71,657,699 (GRCm39) V168A possibly damaging Het
Zfp386 T A 12: 116,022,788 (GRCm39) C169S probably benign Het
Other mutations in Slco4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Slco4a1 APN 2 180,106,472 (GRCm39) missense probably damaging 1.00
IGL02297:Slco4a1 APN 2 180,106,282 (GRCm39) missense probably benign 0.16
IGL02368:Slco4a1 APN 2 180,114,921 (GRCm39) missense probably damaging 0.98
conduit UTSW 2 180,115,408 (GRCm39) missense probably damaging 1.00
ingress UTSW 2 180,107,470 (GRCm39) missense probably benign
R1621:Slco4a1 UTSW 2 180,112,925 (GRCm39) missense probably benign 0.01
R2275:Slco4a1 UTSW 2 180,106,529 (GRCm39) missense possibly damaging 0.94
R2472:Slco4a1 UTSW 2 180,108,880 (GRCm39) missense probably damaging 1.00
R3851:Slco4a1 UTSW 2 180,105,884 (GRCm39) missense probably benign 0.00
R3852:Slco4a1 UTSW 2 180,105,884 (GRCm39) missense probably benign 0.00
R4271:Slco4a1 UTSW 2 180,116,003 (GRCm39) missense possibly damaging 0.85
R4439:Slco4a1 UTSW 2 180,114,455 (GRCm39) missense probably benign 0.02
R4571:Slco4a1 UTSW 2 180,106,171 (GRCm39) missense probably benign 0.32
R4732:Slco4a1 UTSW 2 180,115,408 (GRCm39) missense probably damaging 1.00
R4733:Slco4a1 UTSW 2 180,115,408 (GRCm39) missense probably damaging 1.00
R4925:Slco4a1 UTSW 2 180,113,849 (GRCm39) missense probably benign 0.35
R5156:Slco4a1 UTSW 2 180,114,572 (GRCm39) missense probably benign 0.01
R5186:Slco4a1 UTSW 2 180,114,901 (GRCm39) missense probably damaging 1.00
R5252:Slco4a1 UTSW 2 180,106,252 (GRCm39) missense possibly damaging 0.48
R5426:Slco4a1 UTSW 2 180,113,028 (GRCm39) missense possibly damaging 0.84
R5470:Slco4a1 UTSW 2 180,115,907 (GRCm39) missense probably benign 0.00
R5512:Slco4a1 UTSW 2 180,115,907 (GRCm39) missense possibly damaging 0.91
R6969:Slco4a1 UTSW 2 180,106,601 (GRCm39) missense probably benign
R7133:Slco4a1 UTSW 2 180,113,856 (GRCm39) missense possibly damaging 0.93
R7249:Slco4a1 UTSW 2 180,106,604 (GRCm39) missense probably benign 0.01
R7357:Slco4a1 UTSW 2 180,113,930 (GRCm39) missense probably benign 0.00
R7442:Slco4a1 UTSW 2 180,115,919 (GRCm39) missense probably benign
R7599:Slco4a1 UTSW 2 180,113,048 (GRCm39) missense probably benign
R7750:Slco4a1 UTSW 2 180,113,030 (GRCm39) missense probably benign 0.30
R7834:Slco4a1 UTSW 2 180,107,470 (GRCm39) missense probably benign
R8203:Slco4a1 UTSW 2 180,106,592 (GRCm39) missense probably damaging 0.96
R8504:Slco4a1 UTSW 2 180,106,592 (GRCm39) missense probably damaging 0.96
R9166:Slco4a1 UTSW 2 180,106,034 (GRCm39) missense probably benign 0.00
R9170:Slco4a1 UTSW 2 180,106,478 (GRCm39) missense probably benign 0.00
R9210:Slco4a1 UTSW 2 180,114,271 (GRCm39) missense probably damaging 1.00
R9455:Slco4a1 UTSW 2 180,115,370 (GRCm39) missense probably benign 0.05
R9516:Slco4a1 UTSW 2 180,115,943 (GRCm39) missense possibly damaging 0.93
Z1177:Slco4a1 UTSW 2 180,106,357 (GRCm39) nonsense probably null
Z1177:Slco4a1 UTSW 2 180,106,174 (GRCm39) missense possibly damaging 0.85
Posted On 2014-05-07