Incidental Mutation 'R5793:Slc22a30'
ID 447101
Institutional Source Beutler Lab
Gene Symbol Slc22a30
Ensembl Gene ENSMUSG00000052562
Gene Name solute carrier family 22, member 30
Synonyms C730048C13Rik
MMRRC Submission 043208-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5793 (G1)
Quality Score 166
Status Not validated
Chromosome 19
Chromosomal Location 8312735-8382475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8314183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 501 (Y501F)
Ref Sequence ENSEMBL: ENSMUSP00000093988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064507] [ENSMUST00000096269]
AlphaFold Q96LX3
Predicted Effect probably benign
Transcript: ENSMUST00000064507
SMART Domains Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 99 439 3.1e-21 PFAM
Pfam:MFS_1 127 433 8.8e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000096269
AA Change: Y501F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: Y501F

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 99 527 9.6e-27 PFAM
Pfam:MFS_1 140 376 1.2e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12 C A 11: 70,133,879 (GRCm39) R522L probably benign Het
Arfgef1 A T 1: 10,279,753 (GRCm39) D271E probably benign Het
Arg1 C T 10: 24,796,540 (GRCm39) V96M probably benign Het
Axin1 T C 17: 26,362,282 (GRCm39) S209P probably damaging Het
B4galnt3 A G 6: 120,185,865 (GRCm39) probably null Het
Cdh23 T A 10: 60,141,907 (GRCm39) D3058V probably damaging Het
Chd9 A G 8: 91,728,384 (GRCm39) T794A probably damaging Het
Ckap5 C T 2: 91,450,180 (GRCm39) T1891I possibly damaging Het
Cspg4b G T 13: 113,457,556 (GRCm39) V1201L possibly damaging Het
Dzank1 T C 2: 144,348,144 (GRCm39) I207M probably benign Het
Fkbp9 G A 6: 56,850,498 (GRCm39) probably null Het
Gm4781 T A 10: 100,232,529 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtpbp6 G A 5: 110,255,094 (GRCm39) L33F probably benign Het
Hsd11b1 A C 1: 192,924,492 (GRCm39) F27V probably damaging Het
Ift172 A T 5: 31,434,292 (GRCm39) I482N possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Ly6g2 T C 15: 75,093,493 (GRCm39) probably benign Het
Myh9 T C 15: 77,653,077 (GRCm39) Q1420R probably benign Het
Ncam2 G A 16: 81,372,991 (GRCm39) V569I possibly damaging Het
Nsd1 T C 13: 55,395,819 (GRCm39) V1140A probably benign Het
Ogdhl T A 14: 32,054,730 (GRCm39) L226Q probably damaging Het
Or51a24 T C 7: 103,734,237 (GRCm39) T17A probably benign Het
Orc2 T C 1: 58,536,547 (GRCm39) M1V probably null Het
Padi2 T C 4: 140,660,501 (GRCm39) L327P probably benign Het
Palb2 T C 7: 121,726,860 (GRCm39) N337D probably benign Het
Pard3b A T 1: 61,807,132 (GRCm39) H49L probably damaging Het
Pigz T C 16: 31,764,285 (GRCm39) S448P probably benign Het
Ppfia4 A G 1: 134,239,844 (GRCm39) V911A probably damaging Het
Prr5 T A 15: 84,656,223 (GRCm39) M408K probably benign Het
Qser1 T C 2: 104,593,205 (GRCm39) Y1604C probably damaging Het
Rpgrip1l A G 8: 91,987,400 (GRCm39) S886P probably benign Het
Sdk2 T C 11: 113,759,778 (GRCm39) I408V possibly damaging Het
Sema7a A T 9: 57,867,540 (GRCm39) R431W probably damaging Het
Slitrk5 T A 14: 111,917,345 (GRCm39) V323D probably damaging Het
Snap47 C T 11: 59,329,018 (GRCm39) E95K probably damaging Het
Tbc1d9 A T 8: 83,998,069 (GRCm39) I1209F probably damaging Het
Tek T A 4: 94,708,333 (GRCm39) M297K probably benign Het
Tmem132e T A 11: 82,335,684 (GRCm39) I922N probably damaging Het
Tmx2 T C 2: 84,506,501 (GRCm39) R64G probably damaging Het
Trim68 A T 7: 102,333,560 (GRCm39) S41T possibly damaging Het
Tsga10 A T 1: 37,874,540 (GRCm39) M115K probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r84 C T 10: 130,221,754 (GRCm39) C822Y probably damaging Het
Wdr72 C T 9: 74,117,625 (GRCm39) A779V probably benign Het
Zfp580 A T 7: 5,055,891 (GRCm39) probably benign Het
Zfp772 G A 7: 7,207,283 (GRCm39) T136I probably benign Het
Other mutations in Slc22a30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Slc22a30 APN 19 8,313,152 (GRCm39) missense probably benign 0.29
IGL01894:Slc22a30 APN 19 8,364,021 (GRCm39) missense probably benign 0.28
IGL02795:Slc22a30 APN 19 8,378,259 (GRCm39) missense probably damaging 1.00
IGL02798:Slc22a30 APN 19 8,347,449 (GRCm39) missense probably damaging 0.96
IGL03267:Slc22a30 APN 19 8,315,322 (GRCm39) missense probably benign 0.00
R0089:Slc22a30 UTSW 19 8,347,561 (GRCm39) missense probably benign 0.03
R0243:Slc22a30 UTSW 19 8,322,721 (GRCm39) missense probably benign 0.01
R1033:Slc22a30 UTSW 19 8,313,165 (GRCm39) nonsense probably null
R1781:Slc22a30 UTSW 19 8,313,136 (GRCm39) missense probably damaging 1.00
R2098:Slc22a30 UTSW 19 8,378,175 (GRCm39) missense probably damaging 1.00
R3874:Slc22a30 UTSW 19 8,314,213 (GRCm39) missense probably benign 0.31
R4091:Slc22a30 UTSW 19 8,381,909 (GRCm39) missense probably damaging 1.00
R4799:Slc22a30 UTSW 19 8,321,768 (GRCm39) missense probably benign
R5108:Slc22a30 UTSW 19 8,363,790 (GRCm39) missense probably damaging 1.00
R5191:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5192:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5193:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5195:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5253:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5254:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5255:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5256:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5377:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5378:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5400:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5401:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5481:Slc22a30 UTSW 19 8,314,201 (GRCm39) missense probably benign 0.01
R5644:Slc22a30 UTSW 19 8,381,980 (GRCm39) missense possibly damaging 0.72
R5679:Slc22a30 UTSW 19 8,313,135 (GRCm39) missense possibly damaging 0.90
R5699:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5704:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5706:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5767:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5770:Slc22a30 UTSW 19 8,363,891 (GRCm39) missense probably damaging 0.99
R5784:Slc22a30 UTSW 19 8,321,757 (GRCm39) nonsense probably null
R5813:Slc22a30 UTSW 19 8,381,945 (GRCm39) missense probably benign 0.07
R6101:Slc22a30 UTSW 19 8,315,232 (GRCm39) splice site probably null
R6105:Slc22a30 UTSW 19 8,315,232 (GRCm39) splice site probably null
R6327:Slc22a30 UTSW 19 8,313,086 (GRCm39) utr 3 prime probably benign
R6958:Slc22a30 UTSW 19 8,364,065 (GRCm39) missense probably damaging 0.98
R7162:Slc22a30 UTSW 19 8,314,081 (GRCm39) splice site probably null
R7375:Slc22a30 UTSW 19 8,382,055 (GRCm39) missense probably damaging 1.00
R7572:Slc22a30 UTSW 19 8,313,072 (GRCm39) missense unknown
R7755:Slc22a30 UTSW 19 8,314,133 (GRCm39) missense probably damaging 1.00
R8114:Slc22a30 UTSW 19 8,381,904 (GRCm39) nonsense probably null
R8248:Slc22a30 UTSW 19 8,347,563 (GRCm39) missense probably benign 0.12
R8677:Slc22a30 UTSW 19 8,364,035 (GRCm39) missense probably benign 0.21
R8854:Slc22a30 UTSW 19 8,363,754 (GRCm39) critical splice donor site probably null
R8900:Slc22a30 UTSW 19 8,315,340 (GRCm39) missense probably damaging 1.00
R9185:Slc22a30 UTSW 19 8,321,917 (GRCm39) missense probably benign 0.03
R9296:Slc22a30 UTSW 19 8,364,119 (GRCm39) missense probably benign 0.06
R9463:Slc22a30 UTSW 19 8,378,259 (GRCm39) missense probably damaging 1.00
R9773:Slc22a30 UTSW 19 8,321,754 (GRCm39) missense probably benign 0.01
Z1088:Slc22a30 UTSW 19 8,313,139 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGCCTCTAGGAACATTTGAATC -3'
(R):5'- AAGACACAAGTTTCAAGTGTGC -3'

Sequencing Primer
(F):5'- GCCTCTAGGAACATTTGAATCTACAG -3'
(R):5'- GTTTCAAGTGTGCATTTTTACCAG -3'
Posted On 2016-12-15