Incidental Mutation 'IGL01526:Slc6a21'
ID 89564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01526
Quality Score
Status
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44937220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 575 (I575S)
Ref Sequence ENSEMBL: ENSMUSP00000147890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
AlphaFold A0A1B0GSD2
Predicted Effect probably benign
Transcript: ENSMUST00000085364
AA Change: I250S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: I250S

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176276
AA Change: I575S

PolyPhen 2 Score 0.340 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: I575S

DomainStartEndE-ValueType
Pfam:SNF 48 631 2e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209886
Predicted Effect unknown
Transcript: ENSMUST00000210207
AA Change: I282S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210733
Predicted Effect probably damaging
Transcript: ENSMUST00000210861
AA Change: I575S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,818,628 (GRCm39) probably benign Het
4933430I17Rik G T 4: 62,450,858 (GRCm39) R107L possibly damaging Het
Acvr1 A T 2: 58,348,997 (GRCm39) D388E probably benign Het
Art3 T C 5: 92,562,199 (GRCm39) S354P probably damaging Het
Bpnt1 C A 1: 185,077,591 (GRCm39) S102* probably null Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Cfap65 A T 1: 74,950,237 (GRCm39) S1171T probably damaging Het
Cracd T A 5: 77,005,478 (GRCm39) M613K unknown Het
Csn2 T C 5: 87,842,838 (GRCm39) H47R possibly damaging Het
Gm14496 T A 2: 181,637,458 (GRCm39) D177E probably benign Het
Hmbs A G 9: 44,250,845 (GRCm39) V126A possibly damaging Het
Ica1l A G 1: 60,054,916 (GRCm39) M105T probably damaging Het
Morc2a G A 11: 3,600,428 (GRCm39) E17K probably benign Het
Mroh8 T C 2: 157,080,232 (GRCm39) probably benign Het
Mroh9 G T 1: 162,883,172 (GRCm39) L436I probably damaging Het
Nup54 T C 5: 92,565,334 (GRCm39) D461G probably benign Het
Or10ag2 A T 2: 87,249,319 (GRCm39) D309V probably damaging Het
Or2t45 A G 11: 58,669,123 (GRCm39) T57A probably benign Het
Pcid2 G A 8: 13,135,319 (GRCm39) probably benign Het
Ppp1r3b G T 8: 35,851,872 (GRCm39) R237L probably benign Het
Prdm11 A G 2: 92,843,102 (GRCm39) V119A probably damaging Het
S100a7l2 T A 3: 90,995,612 (GRCm39) probably benign Het
Serpina5 T A 12: 104,068,149 (GRCm39) V70E probably damaging Het
Skap2 C T 6: 51,884,894 (GRCm39) D249N probably benign Het
Slc22a29 A T 19: 8,184,542 (GRCm39) probably benign Het
Slc4a1ap C A 5: 31,685,571 (GRCm39) T283K possibly damaging Het
Smpd1 T G 7: 105,203,982 (GRCm39) W82G probably benign Het
Snx14 T A 9: 88,263,553 (GRCm39) M897L probably damaging Het
Tjp1 A G 7: 64,972,406 (GRCm39) V586A probably damaging Het
Tmc8 T C 11: 117,682,910 (GRCm39) probably benign Het
Trim34a A G 7: 103,909,706 (GRCm39) Y298C probably damaging Het
Ube3c T C 5: 29,872,960 (GRCm39) V1000A probably damaging Het
Other mutations in Slc6a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Slc6a21 APN 7 44,937,668 (GRCm39) missense probably benign 0.31
IGL01670:Slc6a21 APN 7 44,937,557 (GRCm39) missense possibly damaging 0.91
IGL01975:Slc6a21 APN 7 44,937,275 (GRCm39) missense probably benign 0.28
IGL02064:Slc6a21 APN 7 44,935,883 (GRCm39) missense possibly damaging 0.71
IGL02441:Slc6a21 APN 7 44,937,505 (GRCm39) missense probably damaging 1.00
IGL02735:Slc6a21 APN 7 44,936,061 (GRCm39) splice site probably benign
IGL03097:Slc6a21 UTSW 7 44,937,592 (GRCm39) nonsense probably null
R0211:Slc6a21 UTSW 7 44,937,667 (GRCm39) missense possibly damaging 0.90
R0211:Slc6a21 UTSW 7 44,937,667 (GRCm39) missense possibly damaging 0.90
R0269:Slc6a21 UTSW 7 44,936,332 (GRCm39) nonsense probably null
R0336:Slc6a21 UTSW 7 44,935,892 (GRCm39) missense probably damaging 1.00
R1077:Slc6a21 UTSW 7 44,937,626 (GRCm39) missense probably benign 0.42
R1476:Slc6a21 UTSW 7 44,922,052 (GRCm39) missense probably benign 0.09
R1763:Slc6a21 UTSW 7 44,937,158 (GRCm39) nonsense probably null
R1792:Slc6a21 UTSW 7 44,930,155 (GRCm39) missense probably benign 0.04
R1796:Slc6a21 UTSW 7 44,930,179 (GRCm39) missense probably damaging 1.00
R1812:Slc6a21 UTSW 7 44,932,371 (GRCm39) missense probably damaging 1.00
R1868:Slc6a21 UTSW 7 44,937,252 (GRCm39) missense probably benign 0.13
R2121:Slc6a21 UTSW 7 44,937,886 (GRCm39) missense probably benign 0.04
R2129:Slc6a21 UTSW 7 44,932,197 (GRCm39) splice site probably null
R2294:Slc6a21 UTSW 7 44,929,952 (GRCm39) missense possibly damaging 0.83
R2295:Slc6a21 UTSW 7 44,929,952 (GRCm39) missense possibly damaging 0.83
R2409:Slc6a21 UTSW 7 44,929,750 (GRCm39) missense probably benign 0.15
R2858:Slc6a21 UTSW 7 44,929,952 (GRCm39) missense possibly damaging 0.83
R3498:Slc6a21 UTSW 7 44,930,266 (GRCm39) missense probably damaging 1.00
R3751:Slc6a21 UTSW 7 44,929,928 (GRCm39) missense probably benign
R4297:Slc6a21 UTSW 7 44,937,186 (GRCm39) missense possibly damaging 0.95
R4510:Slc6a21 UTSW 7 44,936,713 (GRCm39) missense probably damaging 1.00
R4511:Slc6a21 UTSW 7 44,936,713 (GRCm39) missense probably damaging 1.00
R4876:Slc6a21 UTSW 7 44,929,535 (GRCm39) nonsense probably null
R4921:Slc6a21 UTSW 7 44,937,734 (GRCm39) missense possibly damaging 0.53
R5485:Slc6a21 UTSW 7 44,931,966 (GRCm39) critical splice donor site probably null
R5559:Slc6a21 UTSW 7 44,937,853 (GRCm39) missense possibly damaging 0.61
R6305:Slc6a21 UTSW 7 44,930,028 (GRCm39) missense possibly damaging 0.88
R6390:Slc6a21 UTSW 7 44,936,426 (GRCm39) missense probably benign 0.02
R6571:Slc6a21 UTSW 7 44,930,303 (GRCm39) missense probably damaging 0.99
R6792:Slc6a21 UTSW 7 44,929,309 (GRCm39) start codon destroyed probably null 0.02
R7235:Slc6a21 UTSW 7 44,930,182 (GRCm39) missense probably damaging 0.99
R7278:Slc6a21 UTSW 7 44,931,904 (GRCm39) missense possibly damaging 0.84
R7808:Slc6a21 UTSW 7 44,932,360 (GRCm39) missense
R9047:Slc6a21 UTSW 7 44,936,398 (GRCm39) missense
R9127:Slc6a21 UTSW 7 44,929,674 (GRCm39) splice site probably benign
R9299:Slc6a21 UTSW 7 44,937,130 (GRCm39) missense
R9524:Slc6a21 UTSW 7 44,937,785 (GRCm39) missense probably benign
R9640:Slc6a21 UTSW 7 44,937,189 (GRCm39) missense
R9748:Slc6a21 UTSW 7 44,929,941 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03