Incidental Mutation 'R8359:Slc22a20'
ID645944
Institutional Source Beutler Lab
Gene Symbol Slc22a20
Ensembl Gene ENSMUSG00000037451
Gene Namesolute carrier family 22 (organic anion transporter), member 20
SynonymsmOAT6, LOC381203
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.280) question?
Stock #R8359 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location5970234-5986143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5971526 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 483 (I483V)
Ref Sequence ENSEMBL: ENSMUSP00000049473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041827]
Predicted Effect probably benign
Transcript: ENSMUST00000041827
AA Change: I483V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: I483V

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
Pfam:Sugar_tr 100 521 2.5e-27 PFAM
Pfam:MFS_1 132 475 1.6e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,806,486 V315D probably damaging Het
Adgrf1 A T 17: 43,310,395 I508F probably damaging Het
Atpaf2 T C 11: 60,407,303 D147G probably damaging Het
Brwd1 T C 16: 96,016,209 T1368A probably damaging Het
Cacna1s A T 1: 136,116,061 E1626V probably benign Het
Carm1 G A 9: 21,569,469 V80I possibly damaging Het
Casc4 A T 2: 121,867,151 probably benign Het
Cenpw T A 10: 30,198,488 D71V probably damaging Het
Ckmt1 A T 2: 121,363,050 T364S probably benign Het
Col6a4 T C 9: 106,068,384 S844G probably benign Het
Crybg1 T C 10: 43,992,542 E1380G probably benign Het
Cyp21a1 A G 17: 34,802,131 probably null Het
D430042O09Rik T C 7: 125,868,851 probably null Het
Dhodh A C 8: 109,606,406 D12E probably benign Het
Dnali1 T A 4: 125,063,667 T95S probably damaging Het
Dynlrb1 A G 2: 155,249,950 N93D probably benign Het
Edem1 C T 6: 108,846,813 A390V probably benign Het
Enthd1 T C 15: 80,474,155 D388G probably benign Het
Fam170a A G 18: 50,281,610 T108A probably damaging Het
Fryl A G 5: 73,075,933 S1531P probably benign Het
Hspbap1 C A 16: 35,824,996 N350K probably benign Het
Htr3b A C 9: 48,947,296 S94R probably damaging Het
Ide A T 19: 37,330,487 V42E Het
Igf2r A G 17: 12,683,861 V2434A probably benign Het
Kif16b G A 2: 142,711,857 A1007V probably benign Het
Mccc1 C T 3: 35,964,344 V614I probably benign Het
Mos A G 4: 3,871,097 Y240H probably damaging Het
Myh11 C T 16: 14,208,231 probably null Het
Nexn T A 3: 152,248,361 D166V probably damaging Het
Olfr328 G T 11: 58,552,203 T12N probably benign Het
Olfr510 T A 7: 108,668,311 N298K probably benign Het
Olfr55 G A 17: 33,176,921 C173Y probably damaging Het
Pkp4 A G 2: 59,350,551 Y1061C probably damaging Het
Pla2g6 T C 15: 79,287,170 D740G probably damaging Het
Pla2r1 T A 2: 60,443,283 I920L probably benign Het
Plekha2 A G 8: 25,088,391 I31T probably damaging Het
Ppp1r16b G T 2: 158,761,375 V407L probably benign Het
Prss50 A G 9: 110,862,302 I225V probably damaging Het
Rmdn2 A T 17: 79,628,151 E231V Het
Sema3c T C 5: 17,653,728 S42P possibly damaging Het
Slc30a2 T C 4: 134,349,379 V275A probably damaging Het
Slc6a3 T A 13: 73,544,883 F207L probably benign Het
Slc9a1 A T 4: 133,420,616 Q648H probably damaging Het
Slpi A T 2: 164,356,055 M1K probably null Het
Smc5 A C 19: 23,234,079 S564A possibly damaging Het
Smchd1 A T 17: 71,431,243 F542L probably damaging Het
Sycp1 T A 3: 102,820,593 K901N probably damaging Het
Synpo2l T A 14: 20,666,140 T126S probably benign Het
Upp2 A G 2: 58,777,943 N216S probably benign Het
Wnk1 T C 6: 119,992,447 D349G probably damaging Het
Zfp180 C T 7: 24,104,912 A252V probably benign Het
Zfr2 C T 10: 81,242,819 T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 T504I possibly damaging Het
Other mutations in Slc22a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Slc22a20 APN 19 5970516 missense probably benign 0.13
IGL02745:Slc22a20 APN 19 5972873 missense probably damaging 1.00
IGL02813:Slc22a20 APN 19 5984858 missense probably benign 0.00
IGL03384:Slc22a20 APN 19 5980374 nonsense probably null
R0309:Slc22a20 UTSW 19 5972957 missense probably damaging 1.00
R0762:Slc22a20 UTSW 19 5986008 missense probably damaging 0.99
R1652:Slc22a20 UTSW 19 5972942 missense probably damaging 1.00
R1670:Slc22a20 UTSW 19 5972848 splice site probably benign
R1800:Slc22a20 UTSW 19 5985667 missense probably benign 0.01
R1923:Slc22a20 UTSW 19 5971436 missense probably benign 0.00
R2202:Slc22a20 UTSW 19 5971525 missense possibly damaging 0.70
R4025:Slc22a20 UTSW 19 5985780 missense probably damaging 0.99
R4495:Slc22a20 UTSW 19 5984924 missense probably benign 0.27
R4751:Slc22a20 UTSW 19 5980460 missense probably benign 0.01
R6207:Slc22a20 UTSW 19 5985941 missense probably damaging 1.00
R6861:Slc22a20 UTSW 19 5971810 missense probably benign 0.01
R7243:Slc22a20 UTSW 19 5971571 missense probably damaging 1.00
R8055:Slc22a20 UTSW 19 5971411 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TAACCACTGGTCCTGCACTC -3'
(R):5'- TATCTGTTCACGGGAGAACTCTATC -3'

Sequencing Primer
(F):5'- TCCATAGTGCCAGAGGACACTC -3'
(R):5'- TCTATCCCACAGAGATCAGGTGAG -3'
Posted On2020-09-02