Incidental Mutation 'IGL00736:Slc22a26'
ID 9222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a26
Ensembl Gene ENSMUSG00000053303
Gene Name solute carrier family 22 (organic cation transporter), member 26
Synonyms BC014805
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL00736
Quality Score
Status
Chromosome 19
Chromosomal Location 7758406-7780032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7767527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 292 (Q292R)
Ref Sequence ENSEMBL: ENSMUSP00000113607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065634] [ENSMUST00000120522]
AlphaFold Q91WJ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000065634
AA Change: Q293R

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: Q293R

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 53 64 N/A INTRINSIC
Pfam:Sugar_tr 96 528 1.1e-23 PFAM
Pfam:MFS_1 124 370 7.8e-17 PFAM
Pfam:MFS_1 350 547 2.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120522
AA Change: Q292R

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: Q292R

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 53 64 N/A INTRINSIC
Pfam:Sugar_tr 94 527 4.9e-23 PFAM
Pfam:MFS_1 124 358 1.2e-15 PFAM
Pfam:MFS_1 349 547 2.4e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,158,324 (GRCm39) L41P probably damaging Het
Baz1b A G 5: 135,268,886 (GRCm39) Y1245C probably damaging Het
Dnajb7 T A 15: 81,291,774 (GRCm39) I188F probably benign Het
Dpf1 A T 7: 29,012,333 (GRCm39) K18* probably null Het
Drosha T A 15: 12,834,045 (GRCm39) Y50N unknown Het
Eif2s1 T A 12: 78,931,611 (GRCm39) probably benign Het
Gde1 T C 7: 118,297,925 (GRCm39) E97G probably damaging Het
Lrrc8c G A 5: 105,754,980 (GRCm39) V252M probably damaging Het
Megf10 G A 18: 57,425,782 (GRCm39) R1056Q probably benign Het
Myo3b A C 2: 69,935,989 (GRCm39) probably benign Het
Ralbp1 T C 17: 66,171,718 (GRCm39) Y85C probably damaging Het
Serpini2 C T 3: 75,175,116 (GRCm39) M58I possibly damaging Het
Skor1 C A 9: 63,046,820 (GRCm39) Q892H probably damaging Het
Smc1b T C 15: 85,013,901 (GRCm39) E90G possibly damaging Het
Zmym2 T C 14: 57,140,668 (GRCm39) V169A probably benign Het
Other mutations in Slc22a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Slc22a26 APN 19 7,760,201 (GRCm39) missense probably damaging 0.99
IGL00338:Slc22a26 APN 19 7,760,340 (GRCm39) missense probably benign 0.25
IGL01085:Slc22a26 APN 19 7,767,464 (GRCm39) missense probably benign 0.02
IGL01581:Slc22a26 APN 19 7,779,549 (GRCm39) missense probably benign 0.15
IGL02502:Slc22a26 APN 19 7,768,125 (GRCm39) critical splice donor site probably null
IGL02658:Slc22a26 APN 19 7,765,613 (GRCm39) missense probably benign 0.25
IGL02936:Slc22a26 APN 19 7,768,470 (GRCm39) missense probably damaging 0.99
IGL03162:Slc22a26 APN 19 7,779,466 (GRCm39) missense probably benign 0.00
R0034:Slc22a26 UTSW 19 7,779,618 (GRCm39) missense probably benign 0.03
R0633:Slc22a26 UTSW 19 7,765,575 (GRCm39) critical splice donor site probably null
R0676:Slc22a26 UTSW 19 7,773,509 (GRCm39) splice site probably benign
R2156:Slc22a26 UTSW 19 7,779,480 (GRCm39) missense probably damaging 1.00
R4043:Slc22a26 UTSW 19 7,765,694 (GRCm39) critical splice acceptor site probably null
R4781:Slc22a26 UTSW 19 7,767,500 (GRCm39) missense probably benign 0.34
R4896:Slc22a26 UTSW 19 7,768,419 (GRCm39) missense probably benign 0.14
R4999:Slc22a26 UTSW 19 7,779,546 (GRCm39) missense probably damaging 1.00
R5125:Slc22a26 UTSW 19 7,767,540 (GRCm39) missense possibly damaging 0.62
R5178:Slc22a26 UTSW 19 7,767,540 (GRCm39) missense possibly damaging 0.62
R6161:Slc22a26 UTSW 19 7,763,812 (GRCm39) missense possibly damaging 0.50
R6494:Slc22a26 UTSW 19 7,779,651 (GRCm39) missense probably damaging 1.00
R6512:Slc22a26 UTSW 19 7,779,865 (GRCm39) start gained probably benign
R6724:Slc22a26 UTSW 19 7,779,726 (GRCm39) missense probably benign 0.14
R7323:Slc22a26 UTSW 19 7,768,259 (GRCm39) missense probably damaging 0.97
R7375:Slc22a26 UTSW 19 7,760,509 (GRCm39) splice site probably null
R7558:Slc22a26 UTSW 19 7,762,651 (GRCm39) missense possibly damaging 0.94
R7634:Slc22a26 UTSW 19 7,779,952 (GRCm39) splice site probably null
R8772:Slc22a26 UTSW 19 7,767,477 (GRCm39) missense probably benign 0.27
R8905:Slc22a26 UTSW 19 7,760,331 (GRCm39) missense probably damaging 0.97
R8937:Slc22a26 UTSW 19 7,768,390 (GRCm39) splice site probably benign
R9059:Slc22a26 UTSW 19 7,762,559 (GRCm39) missense probably benign 0.01
R9659:Slc22a26 UTSW 19 7,763,798 (GRCm39) missense probably benign 0.02
R9788:Slc22a26 UTSW 19 7,763,798 (GRCm39) missense probably benign 0.02
Posted On 2012-12-06