Incidental Mutation 'IGL02441:Slc6a21'
ID 293985
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 # IGL02441
Quality Score
Status
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44937505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 599 (V599M)
Ref Sequence ENSEMBL: ENSMUSP00000147890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
AlphaFold A0A1B0GSD2
Predicted Effect probably damaging
Transcript: ENSMUST00000085364
AA Change: V274M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: V274M

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209886
Predicted Effect probably benign
Transcript: ENSMUST00000210207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210733
Predicted Effect probably damaging
Transcript: ENSMUST00000210861
AA Change: V599M

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,029,504 (GRCm39) R179C probably benign Het
Als2 A G 1: 59,254,631 (GRCm39) M242T probably damaging Het
Atad1 C T 19: 32,684,348 (GRCm39) V17I probably benign Het
Bag4 A G 8: 26,258,136 (GRCm39) V397A probably damaging Het
Brd7 A G 8: 89,070,218 (GRCm39) V396A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr4 T A 9: 107,870,466 (GRCm39) I123N possibly damaging Het
Cep68 A G 11: 20,189,186 (GRCm39) F609L probably benign Het
Clec3b C A 9: 122,980,178 (GRCm39) P24T possibly damaging Het
Ctsg T A 14: 56,339,869 (GRCm39) T9S probably benign Het
Dalrd3 A T 9: 108,448,725 (GRCm39) probably benign Het
Dock6 A T 9: 21,753,222 (GRCm39) V286E possibly damaging Het
Dpep2 G A 8: 106,711,723 (GRCm39) A568V probably benign Het
Dph5 A C 3: 115,720,390 (GRCm39) Q192P possibly damaging Het
Eppin T A 2: 164,433,698 (GRCm39) R37* probably null Het
Esyt1 A G 10: 128,348,293 (GRCm39) L865P possibly damaging Het
Exoc6b A G 6: 84,981,990 (GRCm39) L102P probably damaging Het
Foxo6 A G 4: 120,125,232 (GRCm39) I521T possibly damaging Het
Guca1a A T 17: 47,705,578 (GRCm39) probably benign Het
Hpx A G 7: 105,241,430 (GRCm39) F327S probably damaging Het
Hspa12b A G 2: 130,980,515 (GRCm39) M145V probably null Het
Hspa4 A T 11: 53,161,809 (GRCm39) S448T probably benign Het
Kbtbd6 T C 14: 79,690,759 (GRCm39) Y422H probably benign Het
Lama4 A T 10: 38,937,441 (GRCm39) D677V probably benign Het
Ldb1 C T 19: 46,024,195 (GRCm39) E111K probably damaging Het
Macf1 A G 4: 123,281,029 (GRCm39) S3823P probably damaging Het
Man1a2 G A 3: 100,499,189 (GRCm39) T415I probably benign Het
Map3k2 T C 18: 32,333,099 (GRCm39) probably benign Het
Morn5 T A 2: 35,945,038 (GRCm39) Y87* probably null Het
Mpp3 T C 11: 101,900,501 (GRCm39) D326G probably benign Het
Mrgprx1 T C 7: 47,671,336 (GRCm39) H137R probably benign Het
Nav2 C A 7: 49,102,260 (GRCm39) P292T probably damaging Het
Nlrp2 C A 7: 5,338,566 (GRCm39) probably null Het
Noxo1 G A 17: 24,918,030 (GRCm39) S112N probably damaging Het
Nudt9 G T 5: 104,212,885 (GRCm39) K319N probably benign Het
Or8b38 A T 9: 37,973,233 (GRCm39) I206L probably benign Het
Osbpl7 C A 11: 96,958,528 (GRCm39) Q728K probably damaging Het
Pcsk1 A T 13: 75,280,282 (GRCm39) E702D probably benign Het
Piezo2 T C 18: 63,205,933 (GRCm39) D1492G probably damaging Het
Plekhg1 A G 10: 3,908,103 (GRCm39) K1007E possibly damaging Het
Ppp6r3 G A 19: 3,514,693 (GRCm39) P141S probably benign Het
Prrt3 T C 6: 113,473,977 (GRCm39) T354A probably damaging Het
Ptk2 C A 15: 73,192,675 (GRCm39) W181L probably benign Het
Rif1 T A 2: 51,995,527 (GRCm39) H915Q probably benign Het
Selenbp2 G T 3: 94,611,371 (GRCm39) V361L probably benign Het
Slamf7 A G 1: 171,468,625 (GRCm39) L89P probably damaging Het
Sltm G T 9: 70,494,467 (GRCm39) S921I probably damaging Het
Smc4 C A 3: 68,913,544 (GRCm39) A44E probably damaging Het
Tdrd5 A T 1: 156,087,513 (GRCm39) probably benign Het
Tead2 T A 7: 44,866,845 (GRCm39) I68N probably damaging Het
Tnks1bp1 T A 2: 84,902,143 (GRCm39) S1680T probably damaging Het
Topbp1 T C 9: 103,197,438 (GRCm39) V386A possibly damaging Het
Tpx2 C A 2: 152,724,207 (GRCm39) P328T possibly damaging Het
Ttn T A 2: 76,576,332 (GRCm39) I24854F probably damaging Het
Zbtb11 G A 16: 55,794,552 (GRCm39) R43H possibly damaging Het
Zfp609 A G 9: 65,610,611 (GRCm39) L784S possibly damaging Het
Zfp703 T C 8: 27,470,036 (GRCm39) S567P probably damaging Het
Zfp750 A G 11: 121,404,455 (GRCm39) I140T probably benign Het
Other mutations in Slc6a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Slc6a21 APN 7 44,937,668 (GRCm39) missense probably benign 0.31
IGL01526:Slc6a21 APN 7 44,937,220 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16