Incidental Mutation 'R4165:Slc22a28'
ID 321716
Institutional Source Beutler Lab
Gene Symbol Slc22a28
Ensembl Gene ENSMUSG00000063590
Gene Name solute carrier family 22, member 28
Synonyms Gm5631
MMRRC Submission 041007-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R4165 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8039574-8109346 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8040773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 493 (S493P)
Ref Sequence ENSEMBL: ENSMUSP00000067114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065651]
AlphaFold B2RT89
Predicted Effect possibly damaging
Transcript: ENSMUST00000065651
AA Change: S493P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067114
Gene: ENSMUSG00000063590
AA Change: S493P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 99 527 1.4e-26 PFAM
Pfam:MFS_1 140 375 1.1e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Alg11 T C 8: 22,555,573 (GRCm39) V278A probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Avil C T 10: 126,842,496 (GRCm39) Q92* probably null Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
CK137956 A T 4: 127,864,522 (GRCm39) S36T possibly damaging Het
Epb41l3 T C 17: 69,514,883 (GRCm39) S7P probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Gpaa1 A C 15: 76,216,667 (GRCm39) probably benign Het
Grina T A 15: 76,133,529 (GRCm39) L334Q probably damaging Het
Gvin-ps5 T A 7: 105,929,895 (GRCm39) noncoding transcript Het
Igkv15-103 G T 6: 68,414,824 (GRCm39) G88* probably null Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Larp7 A G 3: 127,330,611 (GRCm39) Y569H probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Nr1d2 T C 14: 18,215,446 (GRCm38) I189V probably benign Het
Odad2 A T 18: 7,217,008 (GRCm39) I668K probably damaging Het
Pcdhb19 T A 18: 37,632,243 (GRCm39) N679K probably benign Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prap1 T A 7: 139,676,091 (GRCm39) V35E probably benign Het
Prdm1 T A 10: 44,317,572 (GRCm39) Y417F probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rps3 T C 7: 99,132,816 (GRCm39) I5V probably benign Het
Sema3a A T 5: 13,523,364 (GRCm39) probably null Het
Serpina3g A T 12: 104,206,546 (GRCm39) T116S probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Snapc1 G T 12: 74,029,354 (GRCm39) probably null Het
Sobp C T 10: 42,897,644 (GRCm39) G647D probably damaging Het
Tomm22 C A 15: 79,555,206 (GRCm39) probably benign Het
Trappc11 T C 8: 47,978,003 (GRCm39) probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Vmn2r16 T C 5: 109,478,427 (GRCm39) F61L possibly damaging Het
Zfp709 C T 8: 72,644,649 (GRCm39) Q693* probably null Het
Other mutations in Slc22a28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Slc22a28 APN 19 8,107,567 (GRCm39) missense possibly damaging 0.89
IGL00515:Slc22a28 APN 19 8,094,428 (GRCm39) missense probably benign 0.34
IGL01025:Slc22a28 APN 19 8,094,272 (GRCm39) splice site probably benign
IGL02697:Slc22a28 APN 19 8,094,491 (GRCm39) missense probably benign 0.06
PIT4378001:Slc22a28 UTSW 19 8,049,279 (GRCm39) missense probably damaging 0.96
R0744:Slc22a28 UTSW 19 8,094,197 (GRCm39) missense possibly damaging 0.94
R0836:Slc22a28 UTSW 19 8,094,197 (GRCm39) missense possibly damaging 0.94
R1398:Slc22a28 UTSW 19 8,107,566 (GRCm39) nonsense probably null
R1456:Slc22a28 UTSW 19 8,049,223 (GRCm39) missense possibly damaging 0.50
R1603:Slc22a28 UTSW 19 8,040,674 (GRCm39) missense probably damaging 1.00
R1993:Slc22a28 UTSW 19 8,094,488 (GRCm39) missense possibly damaging 0.79
R2254:Slc22a28 UTSW 19 8,041,858 (GRCm39) missense probably benign
R2262:Slc22a28 UTSW 19 8,048,573 (GRCm39) missense probably benign 0.00
R4078:Slc22a28 UTSW 19 8,078,777 (GRCm39) missense probably benign 0.15
R4612:Slc22a28 UTSW 19 8,078,770 (GRCm39) missense probably damaging 1.00
R4947:Slc22a28 UTSW 19 8,108,816 (GRCm39) missense probably benign 0.03
R5573:Slc22a28 UTSW 19 8,048,462 (GRCm39) missense possibly damaging 0.50
R5611:Slc22a28 UTSW 19 8,040,698 (GRCm39) missense probably damaging 1.00
R5621:Slc22a28 UTSW 19 8,048,376 (GRCm39) missense probably benign 0.00
R5671:Slc22a28 UTSW 19 8,108,795 (GRCm39) missense probably damaging 1.00
R6063:Slc22a28 UTSW 19 8,094,386 (GRCm39) missense probably benign 0.01
R6358:Slc22a28 UTSW 19 8,049,253 (GRCm39) missense probably damaging 0.99
R6385:Slc22a28 UTSW 19 8,078,844 (GRCm39) missense probably damaging 0.99
R6680:Slc22a28 UTSW 19 8,078,757 (GRCm39) missense probably benign 0.07
R6767:Slc22a28 UTSW 19 8,094,409 (GRCm39) missense probably damaging 1.00
R6865:Slc22a28 UTSW 19 8,041,856 (GRCm39) nonsense probably null
R6947:Slc22a28 UTSW 19 8,041,875 (GRCm39) missense possibly damaging 0.58
R7049:Slc22a28 UTSW 19 8,049,270 (GRCm39) missense probably benign
R7269:Slc22a28 UTSW 19 8,094,491 (GRCm39) missense probably benign 0.06
R7484:Slc22a28 UTSW 19 8,048,492 (GRCm39) missense probably benign
R7823:Slc22a28 UTSW 19 8,041,890 (GRCm39) missense probably benign 0.38
R7856:Slc22a28 UTSW 19 8,040,698 (GRCm39) missense probably damaging 1.00
R7980:Slc22a28 UTSW 19 8,078,837 (GRCm39) missense probably damaging 0.99
R8323:Slc22a28 UTSW 19 8,108,788 (GRCm39) missense probably damaging 1.00
R8404:Slc22a28 UTSW 19 8,108,793 (GRCm39) nonsense probably null
R8435:Slc22a28 UTSW 19 8,048,565 (GRCm39) missense probably benign 0.13
R8529:Slc22a28 UTSW 19 8,040,778 (GRCm39) missense probably benign 0.01
R9149:Slc22a28 UTSW 19 8,049,205 (GRCm39) missense probably benign 0.00
R9727:Slc22a28 UTSW 19 8,108,818 (GRCm39) missense probably benign
R9782:Slc22a28 UTSW 19 8,041,813 (GRCm39) missense probably null 1.00
Z1088:Slc22a28 UTSW 19 8,039,763 (GRCm39) missense probably damaging 0.96
Z1176:Slc22a28 UTSW 19 8,039,748 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCCTCAGCATAGTCCATTAGC -3'
(R):5'- TGTCTTCATGGTCTGAATCTGAC -3'

Sequencing Primer
(F):5'- GCATAGTCCATTAGCAAACAACTC -3'
(R):5'- AGGAAGAGTAAGTTACCAAGATCC -3'
Posted On 2015-06-12