Incidental Mutation 'IGL01526:Slc6a21'
ID89564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Namesolute carrier family 6 member 21
Synonyms1700039E15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01526
Quality Score
Status
Chromosome7
Chromosomal Location45277513-45288998 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 45287796 bp
ZygosityHeterozygous
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]
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: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Slc6a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Slc6a21 APN 7 45288244 missense probably benign 0.31
IGL01670:Slc6a21 APN 7 45288133 missense possibly damaging 0.91
IGL01975:Slc6a21 APN 7 45287851 missense probably benign 0.28
IGL02064:Slc6a21 APN 7 45286459 missense possibly damaging 0.71
IGL02441:Slc6a21 APN 7 45288081 missense probably damaging 1.00
IGL02735:Slc6a21 APN 7 45286637 splice site probably benign
IGL03097:Slc6a21 UTSW 7 45288168 nonsense probably null
R0211:Slc6a21 UTSW 7 45288243 missense possibly damaging 0.90
R0211:Slc6a21 UTSW 7 45288243 missense possibly damaging 0.90
R0269:Slc6a21 UTSW 7 45286908 nonsense probably null
R0336:Slc6a21 UTSW 7 45286468 missense probably damaging 1.00
R1077:Slc6a21 UTSW 7 45288202 missense probably benign 0.42
R1476:Slc6a21 UTSW 7 45272628 missense probably benign 0.09
R1763:Slc6a21 UTSW 7 45287734 nonsense probably null
R1792:Slc6a21 UTSW 7 45280731 missense probably benign 0.04
R1796:Slc6a21 UTSW 7 45280755 missense probably damaging 1.00
R1812:Slc6a21 UTSW 7 45282947 missense probably damaging 1.00
R1868:Slc6a21 UTSW 7 45287828 missense probably benign 0.13
R2121:Slc6a21 UTSW 7 45288462 missense probably benign 0.04
R2129:Slc6a21 UTSW 7 45282773 unclassified probably null
R2294:Slc6a21 UTSW 7 45280528 missense possibly damaging 0.83
R2295:Slc6a21 UTSW 7 45280528 missense possibly damaging 0.83
R2409:Slc6a21 UTSW 7 45280326 missense probably benign 0.15
R2858:Slc6a21 UTSW 7 45280528 missense possibly damaging 0.83
R3498:Slc6a21 UTSW 7 45280842 missense probably damaging 1.00
R3751:Slc6a21 UTSW 7 45280504 missense probably benign
R4297:Slc6a21 UTSW 7 45287762 missense possibly damaging 0.95
R4510:Slc6a21 UTSW 7 45287289 missense probably damaging 1.00
R4511:Slc6a21 UTSW 7 45287289 missense probably damaging 1.00
R4876:Slc6a21 UTSW 7 45280111 nonsense probably null
R4921:Slc6a21 UTSW 7 45288310 missense possibly damaging 0.53
R5485:Slc6a21 UTSW 7 45282542 critical splice donor site probably null
R5559:Slc6a21 UTSW 7 45288429 missense possibly damaging 0.61
R6305:Slc6a21 UTSW 7 45280604 missense possibly damaging 0.88
R6390:Slc6a21 UTSW 7 45287002 missense probably benign 0.02
R6571:Slc6a21 UTSW 7 45280879 missense probably damaging 0.99
R6792:Slc6a21 UTSW 7 45279885 start codon destroyed probably null 0.02
R7235:Slc6a21 UTSW 7 45280758 missense probably damaging 0.99
Posted On2013-12-03