Incidental Mutation 'IGL02297:Slco4a1'
ID 290205
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: 0.075) question?
Stock # IGL02297
Quality Score
Status
Chromosome 2
Chromosomal Location 180098038-180116660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 180106282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 155 (C155G)
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: C155G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: C155G

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: C155G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: C155G

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: ENSMUST00000138446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139902
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,571,327 (GRCm39) A287V possibly damaging Het
Aqr A G 2: 113,980,962 (GRCm39) I273T probably benign Het
Arid3c T C 4: 41,730,021 (GRCm39) E58G possibly damaging Het
Col5a3 G T 9: 20,683,450 (GRCm39) T1574K unknown Het
Dbh T C 2: 27,067,748 (GRCm39) V457A probably benign Het
Gm12888 T C 4: 121,181,996 (GRCm39) E32G probably damaging Het
Gnaq A G 19: 16,355,615 (GRCm39) D277G probably damaging Het
Il20 G A 1: 130,836,145 (GRCm39) H133Y probably damaging Het
Itpr1 T A 6: 108,316,478 (GRCm39) F58L possibly damaging Het
Lynx1 G T 15: 74,623,491 (GRCm39) Q19K probably benign Het
Lyst G T 13: 13,812,677 (GRCm39) E1030* probably null Het
Matn1 T A 4: 130,679,575 (GRCm39) probably benign Het
Nav2 A T 7: 49,243,977 (GRCm39) N2068I probably damaging Het
Or5b3 C T 19: 13,388,839 (GRCm39) T302I probably benign Het
Or8g30 T C 9: 39,229,999 (GRCm39) I304V possibly damaging Het
Slc25a23 G T 17: 57,360,324 (GRCm39) Q273K probably benign Het
Txnip T C 3: 96,465,673 (GRCm39) V41A probably damaging Het
Wnt16 C A 6: 22,297,990 (GRCm39) Y285* probably null Het
Other mutations in Slco4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Slco4a1 APN 2 180,106,472 (GRCm39) missense probably damaging 1.00
IGL01982:Slco4a1 APN 2 180,114,946 (GRCm39) missense probably benign 0.03
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 2015-04-16