Incidental Mutation 'R7750:Slco4a1'
ID 597136
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 045806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7750 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180098038-180116660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180113030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 421 (S421P)
Ref Sequence ENSEMBL: ENSMUSP00000045023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038225] [ENSMUST00000038259]
AlphaFold Q8K078
Predicted Effect probably benign
Transcript: ENSMUST00000038225
AA Change: S421P

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: S421P

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: S421P

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: S421P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,199 (GRCm39) D816V possibly damaging Het
Abca16 A T 7: 120,113,928 (GRCm39) N933I probably benign Het
Acly A T 11: 100,368,839 (GRCm39) probably null Het
Acox1 C T 11: 116,074,406 (GRCm39) G105D possibly damaging Het
Ankrd24 A G 10: 81,482,628 (GRCm39) E939G possibly damaging Het
Bard1 T A 1: 71,106,101 (GRCm39) probably null Het
Brd4 G T 17: 32,432,521 (GRCm39) N579K unknown Het
C1qc T C 4: 136,617,592 (GRCm39) Y168C probably damaging Het
Casp6 A G 3: 129,705,858 (GRCm39) D175G probably damaging Het
Ccdc83 A T 7: 89,873,190 (GRCm39) Y388* probably null Het
Clasrp A T 7: 19,318,516 (GRCm39) *628R probably null Het
Cox4i1 A G 8: 121,400,049 (GRCm39) I111V probably benign Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Epb41l4b C T 4: 57,076,913 (GRCm39) probably null Het
Frem2 C A 3: 53,431,103 (GRCm39) L2743F possibly damaging Het
Frmd4a A T 2: 4,606,160 (GRCm39) H628L probably benign Het
Fyb1 A G 15: 6,690,184 (GRCm39) D809G probably damaging Het
Gm19410 T A 8: 36,274,652 (GRCm39) M1491K possibly damaging Het
Gm3604 G A 13: 62,517,810 (GRCm39) H183Y possibly damaging Het
H1f7 A G 15: 98,154,565 (GRCm39) S195P unknown Het
Lama2 T C 10: 26,866,920 (GRCm39) Y2858C probably damaging Het
Methig1 T C 15: 100,251,412 (GRCm39) F108L probably benign Het
Mfsd4b5 A G 10: 39,846,251 (GRCm39) V443A probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myh9 C T 15: 77,667,610 (GRCm39) V608I probably benign Het
Myo1g T C 11: 6,464,849 (GRCm39) D475G probably damaging Het
Neb A C 2: 52,170,728 (GRCm39) probably null Het
Nlrp1b T A 11: 71,059,665 (GRCm39) I769F probably benign Het
Nol8 G T 13: 49,815,742 (GRCm39) V617F possibly damaging Het
Or2d2b A T 7: 106,705,740 (GRCm39) C109* probably null Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pou3f3 T A 1: 42,737,308 (GRCm39) F335I probably damaging Het
Ppp1r3e T C 14: 55,114,084 (GRCm39) D196G probably damaging Het
Prpf40a T C 2: 53,041,757 (GRCm39) T545A probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rprd1a T A 18: 24,641,311 (GRCm39) K102* probably null Het
Sim1 A G 10: 50,772,131 (GRCm39) T47A possibly damaging Het
Slc45a1 C T 4: 150,728,498 (GRCm39) A102T probably damaging Het
Slc6a11 C T 6: 114,207,098 (GRCm39) P361S possibly damaging Het
Slc9b2 T C 3: 135,031,998 (GRCm39) F286S probably damaging Het
Snap91 A C 9: 86,680,762 (GRCm39) probably null Het
Sppl2a A G 2: 126,761,625 (GRCm39) L293P probably damaging Het
Sval3 T A 6: 41,949,360 (GRCm39) I66K possibly damaging Het
Synj2bp T C 12: 81,551,311 (GRCm39) I85V probably benign Het
Thop1 G T 10: 80,916,025 (GRCm39) A403S probably benign Het
Timd4 T A 11: 46,706,354 (GRCm39) M52K probably damaging Het
Tmco5b A G 2: 113,118,609 (GRCm39) N111D probably damaging Het
Trip10 G A 17: 57,568,667 (GRCm39) V419I possibly damaging Het
Trpv3 T C 11: 73,176,847 (GRCm39) Y409H probably damaging Het
Tulp4 A G 17: 6,283,399 (GRCm39) T1143A probably damaging Het
Ugt2b5 A T 5: 87,288,108 (GRCm39) S20T probably benign Het
Unc5b A G 10: 60,610,823 (GRCm39) F406L probably benign Het
Usf3 A G 16: 44,040,884 (GRCm39) E1788G probably benign Het
Usp45 A G 4: 21,780,430 (GRCm39) D27G probably damaging Het
Vmn2r100 G A 17: 19,742,726 (GRCm39) V367I probably benign Het
Vmn2r49 T A 7: 9,710,185 (GRCm39) K849I probably damaging Het
Zfp119b A T 17: 56,245,682 (GRCm39) H501Q probably damaging Het
Zfp462 C A 4: 55,016,958 (GRCm39) H893N probably benign Het
Zkscan4 A G 13: 21,663,525 (GRCm39) E88G probably damaging 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
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
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'- AAACCCAGTGCCTTTCCTGTG -3'
(R):5'- GGCCCAAACCCTTTCTGTAAG -3'

Sequencing Primer
(F):5'- AACGGCAGGTTCCTTGCATG -3'
(R):5'- CTTTCTGTAAGGAGTGGTAGGTAAAG -3'
Posted On 2019-11-26