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 Slc21a12, OATP-E
MMRRC Submission 039658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1621 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180456245-180474867 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180471132 bp (GRCm38)
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: 137,565,779 (GRCm38) N253S probably benign Het
Adamts3 G A 5: 89,721,701 (GRCm38) H272Y probably damaging Het
Arpc5l T C 2: 39,013,901 (GRCm38) probably null Het
Birc6 G A 17: 74,670,250 (GRCm38) V4333I probably benign Het
Cd38 A G 5: 43,901,524 (GRCm38) D160G probably benign Het
Cdc7 A G 5: 106,965,054 (GRCm38) S13G probably benign Het
Chrm5 G T 2: 112,479,837 (GRCm38) D311E probably benign Het
Ctns A G 11: 73,188,472 (GRCm38) V140A possibly damaging Het
Ets2 A G 16: 95,709,869 (GRCm38) D57G probably damaging Het
Fbxo36 T A 1: 84,839,874 (GRCm38) M1K probably null Het
Fhod3 T A 18: 25,022,867 (GRCm38) I514K probably benign Het
G3bp2 A T 5: 92,056,278 (GRCm38) F350I probably damaging Het
Hs3st3a1 G T 11: 64,436,223 (GRCm38) V53F probably benign Het
Ippk T C 13: 49,461,568 (GRCm38) S427P probably benign Het
Irgm2 T C 11: 58,220,538 (GRCm38) F364L probably benign Het
Lipn A G 19: 34,068,713 (GRCm38) K29E probably benign Het
Map3k11 A G 19: 5,690,806 (GRCm38) E187G probably damaging Het
Nrxn3 A G 12: 88,795,710 (GRCm38) M176V probably benign Het
Olfr373 A G 8: 72,100,129 (GRCm38) Y123C probably damaging Het
Palm3 G A 8: 84,030,022 (GRCm38) S721N possibly damaging Het
Plxnb1 A G 9: 109,106,805 (GRCm38) I1088V probably benign Het
Pmfbp1 A G 8: 109,499,538 (GRCm38) H69R probably benign Het
Pou2af1 C T 9: 51,232,860 (GRCm38) H54Y probably damaging Het
Prl6a1 C T 13: 27,318,010 (GRCm38) T120I probably benign Het
Psen2 A T 1: 180,229,465 (GRCm38) F331L probably benign Het
Pygl T C 12: 70,191,092 (GRCm38) D724G probably damaging Het
Slc25a48 T A 13: 56,470,470 (GRCm38) *307R probably null Het
Slc39a6 T C 18: 24,600,889 (GRCm38) K248E probably benign Het
Snx7 T C 3: 117,837,156 (GRCm38) I185V possibly damaging Het
Tmem94 A G 11: 115,785,845 (GRCm38) S59G probably benign Het
Top3a A T 11: 60,750,607 (GRCm38) I392N probably damaging Het
Utp20 A G 10: 88,762,871 (GRCm38) I81T probably benign Het
Utrn A G 10: 12,713,283 (GRCm38) L893S probably benign Het
Other mutations in Slco4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Slco4a1 APN 2 180,464,679 (GRCm38) missense probably damaging 1.00
IGL01982:Slco4a1 APN 2 180,473,153 (GRCm38) missense probably benign 0.03
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
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
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