Incidental Mutation 'IGL01894:Slc22a30'
ID 179327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a30
Ensembl Gene ENSMUSG00000052562
Gene Name solute carrier family 22, member 30
Synonyms C730048C13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01894
Quality Score
Status
Chromosome 19
Chromosomal Location 8312735-8382475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8364021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 218 (H218Q)
Ref Sequence ENSEMBL: ENSMUSP00000069461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064507] [ENSMUST00000096269] [ENSMUST00000120540]
AlphaFold Q96LX3
Predicted Effect probably benign
Transcript: ENSMUST00000064507
AA Change: H218Q

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: H218Q

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 probably benign
Transcript: ENSMUST00000096269
AA Change: H218Q

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: H218Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000120540
AA Change: H218Q

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: H218Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 99 435 1.3e-20 PFAM
Pfam:MFS_1 127 435 1.5e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,324,865 (GRCm39) I530L probably benign Het
Adam3 T C 8: 25,177,954 (GRCm39) D653G probably benign Het
Car13 T C 3: 14,726,525 (GRCm39) F227S probably damaging Het
Cdc27 T C 11: 104,417,747 (GRCm39) N300S probably benign Het
Fat3 C T 9: 16,287,145 (GRCm39) V793I probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpa33 T A 1: 165,992,785 (GRCm39) D299E probably benign Het
Kif5a C T 10: 127,098,648 (GRCm39) V40I probably benign Het
Lama3 A G 18: 12,705,121 (GRCm39) H1455R probably benign Het
Lamc1 T C 1: 153,122,828 (GRCm39) K751E possibly damaging Het
Nek5 T A 8: 22,603,835 (GRCm39) H114L probably damaging Het
Nipal1 G A 5: 72,820,882 (GRCm39) A37T probably benign Het
Or13a24 T C 7: 140,154,683 (GRCm39) Y206H possibly damaging Het
Or5b101 G T 19: 13,005,649 (GRCm39) L15I probably damaging Het
Or5b96 T C 19: 12,867,007 (GRCm39) probably benign Het
Pik3ca T C 3: 32,504,175 (GRCm39) Y622H possibly damaging Het
Pknox2 G T 9: 36,835,038 (GRCm39) H144N probably damaging Het
Ppp4r4 A G 12: 103,559,397 (GRCm39) Y526C probably damaging Het
Prdm10 A G 9: 31,227,557 (GRCm39) D54G probably damaging Het
Rpn2 C T 2: 157,136,093 (GRCm39) T167I probably benign Het
Supt6 A G 11: 78,113,664 (GRCm39) S878P probably benign Het
Tmem184c A T 8: 78,323,775 (GRCm39) C362* probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wscd2 C T 5: 113,710,357 (GRCm39) R294W probably damaging Het
Other mutations in Slc22a30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Slc22a30 APN 19 8,313,152 (GRCm39) missense probably benign 0.29
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
R5793:Slc22a30 UTSW 19 8,314,183 (GRCm39) missense possibly damaging 0.95
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
Posted On 2014-05-07