Incidental Mutation 'IGL02022:Slc22a4'
ID 184016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a4
Ensembl Gene ENSMUSG00000020334
Gene Name solute carrier family 22 (organic cation transporter), member 4
Synonyms Octn1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02022
Quality Score
Status
Chromosome 11
Chromosomal Location 53873949-53918916 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 53874435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020586] [ENSMUST00000076493] [ENSMUST00000124221]
AlphaFold Q9Z306
Predicted Effect probably benign
Transcript: ENSMUST00000020586
SMART Domains Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Sugar_tr 60 524 2.7e-30 PFAM
Pfam:MFS_1 139 478 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076493
SMART Domains Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Sugar_tr 74 527 3.1e-31 PFAM
Pfam:MFS_1 139 376 3e-13 PFAM
low complexity region 528 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124221
SMART Domains Protein: ENSMUSP00000123180
Gene: ENSMUSG00000063652

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,120,358 (GRCm39) Y160C probably damaging Het
Abi3bp T C 16: 56,412,999 (GRCm39) S314P probably damaging Het
Abra T C 15: 41,732,802 (GRCm39) H88R probably benign Het
Bsn A G 9: 107,987,617 (GRCm39) probably benign Het
Chd3 A C 11: 69,251,886 (GRCm39) C123G probably damaging Het
Clca3b A C 3: 144,547,171 (GRCm39) probably null Het
Cnot7 G T 8: 40,952,386 (GRCm39) P190T probably damaging Het
Cps1 A T 1: 67,212,031 (GRCm39) probably benign Het
Dennd2d A G 3: 106,407,220 (GRCm39) T424A probably benign Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Efhd1 G A 1: 87,192,334 (GRCm39) E55K probably damaging Het
Ep300 T C 15: 81,495,638 (GRCm39) probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Klhl3 A T 13: 58,198,878 (GRCm39) S201T possibly damaging Het
Krt1c A G 15: 101,724,953 (GRCm39) F219S probably damaging Het
Lrp1b C T 2: 41,172,172 (GRCm39) D751N probably damaging Het
Lyst T A 13: 13,838,629 (GRCm39) C1848* probably null Het
Macf1 A G 4: 123,284,842 (GRCm39) probably null Het
Med10 T C 13: 69,961,819 (GRCm39) probably benign Het
Msh4 T A 3: 153,592,593 (GRCm39) T170S probably damaging Het
Or52n3 T C 7: 104,530,141 (GRCm39) C76R probably damaging Het
Pelp1 T A 11: 70,297,153 (GRCm39) probably benign Het
Prex2 G A 1: 11,367,963 (GRCm39) V1595I probably benign Het
Prpf8 C T 11: 75,392,660 (GRCm39) R1617* probably null Het
Rabep1 T A 11: 70,825,385 (GRCm39) L684Q probably damaging Het
Smox T C 2: 131,362,037 (GRCm39) F153S probably damaging Het
Tma16 A G 8: 66,939,062 (GRCm39) probably null Het
Unc80 G T 1: 66,665,675 (GRCm39) R1814L possibly damaging Het
Vmn2r108 C T 17: 20,691,987 (GRCm39) D179N possibly damaging Het
Washc2 A G 6: 116,236,126 (GRCm39) E1199G probably benign Het
Zic1 C A 9: 91,244,525 (GRCm39) probably null Het
Other mutations in Slc22a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Slc22a4 APN 11 53,877,303 (GRCm39) critical splice donor site probably null
IGL01723:Slc22a4 APN 11 53,879,671 (GRCm39) missense probably benign 0.28
IGL01839:Slc22a4 APN 11 53,886,903 (GRCm39) missense probably damaging 0.98
IGL02386:Slc22a4 APN 11 53,879,598 (GRCm39) splice site probably benign
PIT1430001:Slc22a4 UTSW 11 53,918,783 (GRCm39) missense probably benign
R0001:Slc22a4 UTSW 11 53,918,829 (GRCm39) start gained probably benign
R1111:Slc22a4 UTSW 11 53,898,667 (GRCm39) missense probably benign
R1710:Slc22a4 UTSW 11 53,918,801 (GRCm39) start codon destroyed probably null 0.99
R2104:Slc22a4 UTSW 11 53,874,436 (GRCm39) unclassified probably benign
R3081:Slc22a4 UTSW 11 53,898,615 (GRCm39) missense probably benign 0.38
R3498:Slc22a4 UTSW 11 53,882,879 (GRCm39) missense probably benign 0.00
R4014:Slc22a4 UTSW 11 53,888,218 (GRCm39) missense probably benign 0.04
R4658:Slc22a4 UTSW 11 53,888,336 (GRCm39) missense probably benign 0.05
R4720:Slc22a4 UTSW 11 53,879,719 (GRCm39) missense probably damaging 1.00
R4727:Slc22a4 UTSW 11 53,918,477 (GRCm39) missense possibly damaging 0.83
R5894:Slc22a4 UTSW 11 53,888,341 (GRCm39) missense probably benign 0.04
R5945:Slc22a4 UTSW 11 53,886,854 (GRCm39) missense probably damaging 1.00
R6295:Slc22a4 UTSW 11 53,898,634 (GRCm39) missense possibly damaging 0.46
R6848:Slc22a4 UTSW 11 53,898,615 (GRCm39) missense possibly damaging 0.90
R6899:Slc22a4 UTSW 11 53,879,739 (GRCm39) missense probably damaging 1.00
R7343:Slc22a4 UTSW 11 53,877,364 (GRCm39) missense possibly damaging 0.53
R7414:Slc22a4 UTSW 11 53,888,254 (GRCm39) missense probably benign 0.00
R7806:Slc22a4 UTSW 11 53,881,476 (GRCm39) missense probably damaging 1.00
R8068:Slc22a4 UTSW 11 53,888,269 (GRCm39) missense possibly damaging 0.89
R8087:Slc22a4 UTSW 11 53,886,887 (GRCm39) missense possibly damaging 0.80
R8218:Slc22a4 UTSW 11 53,877,407 (GRCm39) missense probably benign 0.00
R8971:Slc22a4 UTSW 11 53,879,718 (GRCm39) missense probably damaging 0.99
R9008:Slc22a4 UTSW 11 53,881,664 (GRCm39) nonsense probably null
R9296:Slc22a4 UTSW 11 53,888,217 (GRCm39) nonsense probably null
R9484:Slc22a4 UTSW 11 53,879,773 (GRCm39) missense possibly damaging 0.94
R9679:Slc22a4 UTSW 11 53,881,599 (GRCm39) missense probably damaging 1.00
Z1177:Slc22a4 UTSW 11 53,918,544 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07