Incidental Mutation 'R5426:Slco4a1'
ID 426862
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 042992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5426 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180456245-180474867 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 180471235 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 420 (A420D)
Ref Sequence ENSEMBL: ENSMUSP00000046502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038225] [ENSMUST00000038259]
AlphaFold Q8K078
Predicted Effect possibly damaging
Transcript: ENSMUST00000038225
AA Change: A420D

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: A420D

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 possibly damaging
Transcript: ENSMUST00000038259
AA Change: A420D

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: A420D

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
Meta Mutation Damage Score 0.7790 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,294,003 (GRCm38) H122L probably damaging Het
9330182O14Rik G A 15: 40,148,536 (GRCm38) M90I unknown Het
9330182O14Rik G A 15: 40,148,537 (GRCm38) D91N unknown Het
Abca13 T A 11: 9,290,722 (GRCm38) S862T probably damaging Het
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adgb C A 10: 10,350,260 (GRCm38) A1405S probably benign Het
Adpgk T A 9: 59,297,549 (GRCm38) V86E probably damaging Het
Agfg2 G C 5: 137,667,758 (GRCm38) P80A probably damaging Het
Akap11 G A 14: 78,498,864 (GRCm38) Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 (GRCm38) R62Q probably benign Het
Als2cr12 T A 1: 58,666,886 (GRCm38) K275* probably null Het
Amd1 G T 10: 40,290,187 (GRCm38) D265E probably damaging Het
Aox4 A T 1: 58,220,094 (GRCm38) Q106L probably damaging Het
Arap2 A T 5: 62,642,816 (GRCm38) N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 (GRCm38) S874G probably damaging Het
BC067074 G A 13: 113,369,053 (GRCm38) V2239I probably benign Het
C87499 T A 4: 88,629,410 (GRCm38) probably benign Het
Ccdc166 T C 15: 75,982,096 (GRCm38) Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdk14 A G 5: 4,888,975 (GRCm38) S388P possibly damaging Het
Chgb A T 2: 132,793,533 (GRCm38) Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 (GRCm38) W109R probably damaging Het
Cyp2b9 T C 7: 26,187,655 (GRCm38) V163A probably benign Het
Dcpp2 T A 17: 23,899,313 (GRCm38) H27Q possibly damaging Het
Ddn T A 15: 98,806,466 (GRCm38) E315V possibly damaging Het
Defb29 C A 2: 152,538,948 (GRCm38) C47F probably damaging Het
Dnah7b T C 1: 46,242,206 (GRCm38) M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 (GRCm38) I854F probably damaging Het
Dsg4 T C 18: 20,458,484 (GRCm38) Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 (GRCm38) A23T unknown Het
Gemin5 A G 11: 58,125,287 (GRCm38) S1297P probably benign Het
Gm10309 A C 17: 86,498,733 (GRCm38) probably benign Het
Gm884 A T 11: 103,620,760 (GRCm38) H127Q unknown Het
Gpatch11 T A 17: 78,841,234 (GRCm38) S155R possibly damaging Het
Grin2b C A 6: 135,732,368 (GRCm38) Q1393H probably damaging Het
Heatr5b C T 17: 78,773,713 (GRCm38) C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 (GRCm38) T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 (GRCm38) I123F probably damaging Het
Kalrn A T 16: 34,262,653 (GRCm38) V644D probably damaging Het
Kifap3 A G 1: 163,779,871 (GRCm38) M1V probably null Het
Klhl11 A G 11: 100,464,116 (GRCm38) L293P probably damaging Het
Klrc3 G A 6: 129,641,550 (GRCm38) S98L probably benign Het
Med12l G A 3: 59,248,722 (GRCm38) M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 (GRCm38) probably null Het
Mybpc2 A G 7: 44,509,829 (GRCm38) V599A probably benign Het
Naalad2 T C 9: 18,347,519 (GRCm38) N487D probably benign Het
Nat8f7 T G 6: 85,707,823 (GRCm38) S12R probably benign Het
Nefm T A 14: 68,120,066 (GRCm38) probably benign Het
Nlrp5 T C 7: 23,418,201 (GRCm38) V450A probably damaging Het
Nps G A 7: 135,268,647 (GRCm38) probably null Het
Olfr1247 T C 2: 89,609,739 (GRCm38) Y121C probably damaging Het
Olfr142 T A 2: 90,252,611 (GRCm38) K126* probably null Het
Olfr159 A G 4: 43,770,168 (GRCm38) I281T probably benign Het
Olfr192 G T 16: 59,098,302 (GRCm38) P230Q possibly damaging Het
Olfr492 T C 7: 108,322,810 (GRCm38) N289D probably damaging Het
Olfr513 T C 7: 108,755,717 (GRCm38) L287P possibly damaging Het
Olfr698 C A 7: 106,752,566 (GRCm38) S274I probably benign Het
Oxct2a C A 4: 123,322,713 (GRCm38) G292W possibly damaging Het
Prr27 T C 5: 87,850,885 (GRCm38) probably benign Het
Ptx3 T C 3: 66,220,722 (GRCm38) M68T probably damaging Het
Rufy1 A G 11: 50,421,734 (GRCm38) L131S probably damaging Het
Sept7 T A 9: 25,286,690 (GRCm38) I100N possibly damaging Het
Sgms2 T C 3: 131,341,797 (GRCm38) I143V probably benign Het
Slc25a34 A G 4: 141,623,566 (GRCm38) V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 (GRCm38) D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 (GRCm38) probably null Het
Smap1 T C 1: 23,849,390 (GRCm38) T180A probably benign Het
Specc1l T C 10: 75,267,550 (GRCm38) S920P probably benign Het
Tgtp2 A G 11: 49,059,256 (GRCm38) M163T probably benign Het
Tiam1 G T 16: 89,865,392 (GRCm38) Q613K possibly damaging Het
Vsig10l T A 7: 43,464,823 (GRCm38) S190T probably damaging Het
Vwa3b A G 1: 37,115,671 (GRCm38) Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 (GRCm38) N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 (GRCm38) G349R probably damaging Het
Wdr70 A G 15: 7,922,105 (GRCm38) L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 (GRCm38) S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 (GRCm38) C391* probably null Het
Zfp638 A G 6: 83,976,414 (GRCm38) E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 (GRCm38) D192V probably benign Het
Zfp853 T G 5: 143,288,869 (GRCm38) Q332P unknown 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
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
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'- AACGGCAGGTTCCTTGCATG -3'
(R):5'- GGCCCAAACCCTTTCTGTAAG -3'

Sequencing Primer
(F):5'- GCAGGTTCCTTGCATGCAGTC -3'
(R):5'- CTTTCTGTAAGGAGTGGTAGGTAAAG -3'
Posted On 2016-09-01