Incidental Mutation 'R4571:Slco4a1'
ID 342126
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 041795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180456245-180474867 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180464378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 118 (T118S)
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: T118S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: T118S

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: T118S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: T118S

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
Meta Mutation Damage Score 0.1985 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 110,030,058 (GRCm38) C1497S probably damaging Het
Acoxl G T 2: 127,877,807 (GRCm38) G163W probably damaging Het
Apbb1 T A 7: 105,573,762 (GRCm38) N214I probably damaging Het
Apol7b T C 15: 77,423,534 (GRCm38) K254E probably benign Het
Arl4d T A 11: 101,667,143 (GRCm38) V165E possibly damaging Het
Brca1 C A 11: 101,517,366 (GRCm38) R1377L probably benign Het
Btf3 A G 13: 98,313,284 (GRCm38) F65L probably benign Het
C2 T C 17: 34,863,659 (GRCm38) N495D probably benign Het
Cacna1c T C 6: 118,630,380 (GRCm38) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm38) D796E probably benign Het
Clasp2 G T 9: 113,847,721 (GRCm38) L173F probably damaging Het
Clec4g A T 8: 3,718,766 (GRCm38) probably null Het
Col9a3 T C 2: 180,616,366 (GRCm38) probably benign Het
Csmd2 T A 4: 128,480,095 (GRCm38) probably null Het
Ddx11 T C 17: 66,130,773 (GRCm38) C165R probably benign Het
Dnah7c A C 1: 46,533,216 (GRCm38) M950L probably damaging Het
Dusp23 A C 1: 172,632,614 (GRCm38) probably null Het
Ebag9 A T 15: 44,636,762 (GRCm38) probably null Het
Edn3 G A 2: 174,781,904 (GRCm38) A211T probably benign Het
Eif3e G A 15: 43,266,162 (GRCm38) T190I possibly damaging Het
Fam76a T C 4: 132,920,897 (GRCm38) H3R possibly damaging Het
Gabbr1 G T 17: 37,054,236 (GRCm38) E138* probably null Het
Galc T C 12: 98,222,617 (GRCm38) T412A probably benign Het
Gimap3 T C 6: 48,765,720 (GRCm38) D92G possibly damaging Het
Gin1 T C 1: 97,785,076 (GRCm38) Y285H probably damaging Het
Gm4868 A G 5: 125,848,718 (GRCm38) noncoding transcript Het
Gm7052 T A 17: 22,040,424 (GRCm38) probably benign Het
Gpcpd1 T A 2: 132,550,350 (GRCm38) E226D probably benign Het
Hoxb4 T C 11: 96,319,166 (GRCm38) S133P possibly damaging Het
Hrg C T 16: 22,961,222 (GRCm38) probably benign Het
Insrr A G 3: 87,800,887 (GRCm38) K212R probably benign Het
Ipp A G 4: 116,530,458 (GRCm38) D411G probably damaging Het
Kcnd3 C T 3: 105,658,766 (GRCm38) A421V probably damaging Het
Kcnq3 A G 15: 66,030,612 (GRCm38) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm38) F616S probably damaging Het
Lars1 T C 18: 42,228,230 (GRCm38) probably null Het
Lmo7 G T 14: 101,887,594 (GRCm38) Q496H probably damaging Het
Map3k9 C A 12: 81,734,091 (GRCm38) A432S probably benign Het
Nop2 T G 6: 125,140,881 (GRCm38) probably null Het
Nup50l T A 6: 96,164,881 (GRCm38) N394I probably damaging Het
Or10ag53 C A 2: 87,252,458 (GRCm38) Q174K possibly damaging Het
Or2h2 T C 17: 37,085,579 (GRCm38) I195M probably damaging Het
Or5m11b A T 2: 85,975,831 (GRCm38) E196V probably damaging Het
Or6k2 A T 1: 174,158,928 (GRCm38) N52Y possibly damaging Het
Pan2 A G 10: 128,308,643 (GRCm38) T187A probably benign Het
Pcmtd2 A G 2: 181,842,424 (GRCm38) E9G possibly damaging Het
Pik3cb T A 9: 99,090,257 (GRCm38) I283F possibly damaging Het
Pkhd1 G A 1: 20,613,409 (GRCm38) T40I probably damaging Het
Plxna2 T C 1: 194,810,988 (GRCm38) V1857A possibly damaging Het
Polg T C 7: 79,460,379 (GRCm38) S334G probably damaging Het
Rem2 T C 14: 54,477,659 (GRCm38) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,704,236 (GRCm38) noncoding transcript Het
Slc6a18 A T 13: 73,666,370 (GRCm38) N468K possibly damaging Het
Smg1 A T 7: 118,139,465 (GRCm38) N3520K possibly damaging Het
Tapbp C A 17: 33,926,453 (GRCm38) D415E probably damaging Het
Topaz1 A G 9: 122,747,436 (GRCm38) T31A probably benign Het
Trpv6 C T 6: 41,621,744 (GRCm38) R649H probably damaging Het
Vmn1r188 A G 13: 22,088,518 (GRCm38) Y214C probably benign Het
Vps8 T A 16: 21,435,775 (GRCm38) I59N probably damaging Het
Wnt9a T C 11: 59,331,337 (GRCm38) C354R probably damaging Het
Zcchc2 A G 1: 106,031,257 (GRCm38) T1153A possibly damaging Het
Zfp30 A G 7: 29,793,202 (GRCm38) R294G probably damaging Het
Zfp558 A T 9: 18,456,503 (GRCm38) C330S possibly damaging Het
Zfp62 G T 11: 49,215,742 (GRCm38) S220I probably damaging Het
Zfp62 A C 11: 49,215,741 (GRCm38) S220R probably damaging Het
Zp3r A G 1: 130,578,020 (GRCm38) S423P probably damaging 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
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
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'- TTACTAGCACGTCCTCAGCC -3'
(R):5'- GCAAATACCAGGGAGCCGATTC -3'

Sequencing Primer
(F):5'- AGCCAACCCCTGTTTGAG -3'
(R):5'- AGCCGATTCCCAGGACCAG -3'
Posted On 2015-09-24