Incidental Mutation 'IGL01085:Slc22a26'
ID53237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a26
Ensembl Gene ENSMUSG00000053303
Gene Namesolute carrier family 22 (organic cation transporter), member 26
SynonymsBC014805
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL01085
Quality Score
Status
Chromosome19
Chromosomal Location7781041-7802667 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7790099 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 314 (V314A)
Ref Sequence ENSEMBL: ENSMUSP00000064809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065634] [ENSMUST00000120522]
Predicted Effect probably benign
Transcript: ENSMUST00000065634
AA Change: V314A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: V314A

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 probably benign
Transcript: ENSMUST00000120522
AA Change: V313A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: V313A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,037,342 probably benign Het
Acp7 T C 7: 28,611,053 Y453C probably damaging Het
Bop1 T C 15: 76,453,376 D683G probably damaging Het
Cacna1b G T 2: 24,678,994 R974S probably damaging Het
Cenpt T C 8: 105,846,665 E350G possibly damaging Het
Cep112 G T 11: 108,486,606 R270L probably damaging Het
Crem T C 18: 3,299,236 T26A probably damaging Het
Crot T C 5: 8,973,955 H387R probably damaging Het
Fdxr A T 11: 115,269,576 V351E probably benign Het
Fkbpl T C 17: 34,645,744 L162P probably damaging Het
Fmn2 T A 1: 174,695,654 N1358K probably damaging Het
Gm5155 A T 7: 17,915,691 H729L possibly damaging Het
Hectd4 G T 5: 121,331,701 G2553V probably damaging Het
Ifna16 A T 4: 88,676,732 I42K probably benign Het
Igfals C T 17: 24,881,660 T575I probably benign Het
Il6 G T 5: 30,013,489 V28F probably damaging Het
Irx1 A G 13: 71,959,697 S289P probably benign Het
Ncoa2 T C 1: 13,149,079 T1245A possibly damaging Het
Nr3c2 G T 8: 76,908,354 R28L probably benign Het
Nudt5 G A 2: 5,864,427 V155I probably benign Het
Olfr12 G T 1: 92,620,199 V98F possibly damaging Het
Pcm1 T C 8: 41,309,603 S1395P probably damaging Het
Pkhd1l1 G A 15: 44,562,752 probably null Het
Prodh A T 16: 18,076,344 V339E probably damaging Het
Rbm48 C T 5: 3,584,762 V401M probably benign Het
Retreg3 G A 11: 101,100,925 Q61* probably null Het
Rif1 A G 2: 52,085,140 M354V possibly damaging Het
Rrn3 G A 16: 13,809,062 V507M probably damaging Het
Safb2 T A 17: 56,565,242 R197* probably null Het
Slfnl1 G T 4: 120,533,356 R68L probably damaging Het
Spata1 G T 3: 146,476,242 Q10K possibly damaging Het
Swi5 T C 2: 32,280,727 M95V possibly damaging Het
Thpo T C 16: 20,728,455 D52G probably damaging Het
Tmem101 A T 11: 102,154,660 L121Q probably damaging Het
Trim40 T C 17: 36,883,241 I187V probably benign Het
Usp33 A G 3: 152,368,569 K351E possibly damaging Het
Uvrag T C 7: 99,118,224 T67A probably damaging Het
Vcan T C 13: 89,679,958 D2163G probably damaging Het
Wnt7a C T 6: 91,408,789 V61I probably benign Het
Zfp804b A G 5: 6,770,931 S675P probably damaging Het
Other mutations in Slc22a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Slc22a26 APN 19 7782836 missense probably damaging 0.99
IGL00338:Slc22a26 APN 19 7782975 missense probably benign 0.25
IGL00736:Slc22a26 APN 19 7790162 missense possibly damaging 0.50
IGL01581:Slc22a26 APN 19 7802184 missense probably benign 0.15
IGL02502:Slc22a26 APN 19 7790760 critical splice donor site probably null
IGL02658:Slc22a26 APN 19 7788248 missense probably benign 0.25
IGL02936:Slc22a26 APN 19 7791105 missense probably damaging 0.99
IGL03162:Slc22a26 APN 19 7802101 missense probably benign 0.00
R0034:Slc22a26 UTSW 19 7802253 missense probably benign 0.03
R0633:Slc22a26 UTSW 19 7788210 critical splice donor site probably null
R0676:Slc22a26 UTSW 19 7796144 splice site probably benign
R2156:Slc22a26 UTSW 19 7802115 missense probably damaging 1.00
R4043:Slc22a26 UTSW 19 7788329 critical splice acceptor site probably null
R4781:Slc22a26 UTSW 19 7790135 missense probably benign 0.34
R4896:Slc22a26 UTSW 19 7791054 missense probably benign 0.14
R4999:Slc22a26 UTSW 19 7802181 missense probably damaging 1.00
R5125:Slc22a26 UTSW 19 7790175 missense possibly damaging 0.62
R5178:Slc22a26 UTSW 19 7790175 missense possibly damaging 0.62
R6161:Slc22a26 UTSW 19 7786447 missense possibly damaging 0.50
R6494:Slc22a26 UTSW 19 7802286 missense probably damaging 1.00
R6512:Slc22a26 UTSW 19 7802500 start gained probably benign
R6724:Slc22a26 UTSW 19 7802361 missense probably benign 0.14
R7323:Slc22a26 UTSW 19 7790894 missense probably damaging 0.97
R7375:Slc22a26 UTSW 19 7783144 splice site probably null
R7558:Slc22a26 UTSW 19 7785286 missense possibly damaging 0.94
R7634:Slc22a26 UTSW 19 7802587 splice site probably null
Posted On2013-06-21