Incidental Mutation 'R1621:Slco4a1'
ID 174649
Institutional Source Beutler Lab
Gene Symbol Slco4a1
Ensembl Gene ENSMUSG00000038963
Gene Name solute carrier organic anion transporter family, member 4a1
Synonyms OATP-E, Slc21a12
MMRRC Submission 039658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1621 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180098038-180116660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180112925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 386 (T386S)
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: T386S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: T386S

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: T386S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: T386S

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
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 84.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,564,041 (GRCm39) N253S probably benign Het
Adamts3 G A 5: 89,869,560 (GRCm39) H272Y probably damaging Het
Arpc5l T C 2: 38,903,913 (GRCm39) probably null Het
Birc6 G A 17: 74,977,245 (GRCm39) V4333I probably benign Het
Cd38 A G 5: 44,058,866 (GRCm39) D160G probably benign Het
Cdc7 A G 5: 107,112,920 (GRCm39) S13G probably benign Het
Chrm5 G T 2: 112,310,182 (GRCm39) D311E probably benign Het
Ctns A G 11: 73,079,298 (GRCm39) V140A possibly damaging Het
Ets2 A G 16: 95,510,913 (GRCm39) D57G probably damaging Het
Fbxo36 T A 1: 84,817,595 (GRCm39) M1K probably null Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
G3bp2 A T 5: 92,204,137 (GRCm39) F350I probably damaging Het
Hs3st3a1 G T 11: 64,327,049 (GRCm39) V53F probably benign Het
Ippk T C 13: 49,615,044 (GRCm39) S427P probably benign Het
Irgm2 T C 11: 58,111,364 (GRCm39) F364L probably benign Het
Lipn A G 19: 34,046,113 (GRCm39) K29E probably benign Het
Map3k11 A G 19: 5,740,834 (GRCm39) E187G probably damaging Het
Nrxn3 A G 12: 88,762,480 (GRCm39) M176V probably benign Het
Or2z9 A G 8: 72,853,973 (GRCm39) Y123C probably damaging Het
Palm3 G A 8: 84,756,651 (GRCm39) S721N possibly damaging Het
Plxnb1 A G 9: 108,935,873 (GRCm39) I1088V probably benign Het
Pmfbp1 A G 8: 110,226,170 (GRCm39) H69R probably benign Het
Pou2af1 C T 9: 51,144,160 (GRCm39) H54Y probably damaging Het
Prl6a1 C T 13: 27,501,993 (GRCm39) T120I probably benign Het
Psen2 A T 1: 180,057,030 (GRCm39) F331L probably benign Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Slc25a48 T A 13: 56,618,283 (GRCm39) *307R probably null Het
Slc39a6 T C 18: 24,733,946 (GRCm39) K248E probably benign Het
Snx7 T C 3: 117,630,805 (GRCm39) I185V possibly damaging Het
Tmem94 A G 11: 115,676,671 (GRCm39) S59G probably benign Het
Top3a A T 11: 60,641,433 (GRCm39) I392N probably damaging Het
Utp20 A G 10: 88,598,733 (GRCm39) I81T probably benign Het
Utrn A G 10: 12,589,027 (GRCm39) L893S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AATCGGCCACAGCAGTGACATAG -3'
(R):5'- AATGCTCAGGGTCTCCTTACCGAAC -3'

Sequencing Primer
(F):5'- AGTGGGGCCATTAATTCACTACC -3'
(R):5'- CTTACCGAACAGGGTGGCAG -3'
Posted On 2014-04-24