Incidental Mutation 'IGL02430:Slc6a20b'
ID293102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a20b
Ensembl Gene ENSMUSG00000025243
Gene Namesolute carrier family 6 (neurotransmitter transporter), member 20B
SynonymsSit1, XT3, Xtrp3, Slc6a20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL02430
Quality Score
Status
Chromosome9
Chromosomal Location123590800-123632565 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123597240 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 527 (Y527H)
Ref Sequence ENSEMBL: ENSMUSP00000026273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000026273] [ENSMUST00000166800]
Predicted Effect probably benign
Transcript: ENSMUST00000026270
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240

DomainStartEndE-ValueType
Pfam:Syja_N 58 346 4.7e-88 PFAM
low complexity region 400 415 N/A INTRINSIC
Blast:IPPc 416 500 3e-12 BLAST
transmembrane domain 521 543 N/A INTRINSIC
transmembrane domain 550 569 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000026273
AA Change: Y527H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: Y527H

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Pfam:SNF 48 624 5.4e-173 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166800
Predicted Effect probably benign
Transcript: ENSMUST00000168824
SMART Domains Protein: ENSMUSP00000129307
Gene: ENSMUSG00000025243

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
Pfam:SNF 38 74 3.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171122
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,522,760 E1249G probably benign Het
C8a G A 4: 104,817,522 T540I probably damaging Het
Clcnkb C A 4: 141,409,390 W388L possibly damaging Het
Cnbp A T 6: 87,845,178 Y114* probably null Het
Col13a1 A G 10: 61,874,751 V337A probably benign Het
Cyp2e1 A G 7: 140,770,226 K275E probably damaging Het
Dchs1 A G 7: 105,771,971 V414A probably benign Het
Ebf1 G A 11: 44,924,576 probably null Het
Gabbr1 C T 17: 37,056,308 R198* probably null Het
Gm12800 A G 4: 101,910,280 Y242C probably benign Het
Gpaa1 T C 15: 76,332,188 S36P possibly damaging Het
Hipk1 A G 3: 103,760,655 V532A probably damaging Het
Klhl18 A T 9: 110,437,401 C217S probably benign Het
Lmntd1 T A 6: 145,413,414 T191S probably benign Het
Ltbp2 T A 12: 84,799,401 Y925F probably damaging Het
Lvrn A G 18: 46,894,730 I871V probably benign Het
Mrgprb1 A G 7: 48,447,661 S168P possibly damaging Het
Olfr495 A T 7: 108,395,722 I201F probably benign Het
Olfr739 A G 14: 50,425,151 I211V probably benign Het
Pcnx T A 12: 81,919,322 N754K possibly damaging Het
Plaa A T 4: 94,582,573 M442K probably benign Het
Pole3 T C 4: 62,524,819 N28S possibly damaging Het
Prlr A G 15: 10,325,391 K4E probably damaging Het
Rp1l1 A T 14: 64,029,286 T774S probably benign Het
Selp C A 1: 164,126,383 P84Q probably damaging Het
Sh3bp4 T A 1: 89,153,163 W901R probably null Het
Slit3 T A 11: 35,177,774 probably null Het
Spidr C T 16: 16,114,910 D169N probably damaging Het
Sstr2 T C 11: 113,624,804 L183P probably damaging Het
Tmem62 C T 2: 120,986,662 T233I probably damaging Het
Uba7 A G 9: 107,979,468 probably benign Het
Ubc A T 5: 125,387,570 I231N probably damaging Het
Ubl3 A T 5: 148,551,956 D8E probably benign Het
Unc5a A G 13: 55,002,482 I465M probably damaging Het
Vmn2r106 A G 17: 20,278,896 I251T probably benign Het
Vwa8 T C 14: 78,934,645 probably null Het
Washc5 A G 15: 59,366,291 Y195H probably damaging Het
Wdr27 A C 17: 14,901,800 S615A probably damaging Het
Zfp160 T A 17: 21,025,530 L114H possibly damaging Het
Zfp523 T C 17: 28,195,139 probably benign Het
Other mutations in Slc6a20b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02741:Slc6a20b APN 9 123607602 missense probably damaging 1.00
IGL03038:Slc6a20b APN 9 123597329 missense possibly damaging 0.55
IGL03115:Slc6a20b APN 9 123597338 missense possibly damaging 0.82
IGL03228:Slc6a20b APN 9 123632132 nonsense probably null
PIT4131001:Slc6a20b UTSW 9 123612126 missense probably benign 0.00
R0653:Slc6a20b UTSW 9 123597312 missense probably damaging 1.00
R1072:Slc6a20b UTSW 9 123598459 missense probably damaging 0.97
R1759:Slc6a20b UTSW 9 123608997 critical splice donor site probably null
R1889:Slc6a20b UTSW 9 123632204 missense probably benign 0.02
R2075:Slc6a20b UTSW 9 123595034 missense probably benign 0.13
R2187:Slc6a20b UTSW 9 123598588 missense probably damaging 1.00
R4097:Slc6a20b UTSW 9 123612757 utr 3 prime probably benign
R4762:Slc6a20b UTSW 9 123598560 missense probably damaging 1.00
R4834:Slc6a20b UTSW 9 123596048 missense probably benign 0.00
R4932:Slc6a20b UTSW 9 123604796 missense probably damaging 1.00
R5079:Slc6a20b UTSW 9 123598498 missense probably damaging 1.00
R5095:Slc6a20b UTSW 9 123595054 missense probably benign
R5307:Slc6a20b UTSW 9 123603834 missense possibly damaging 0.62
R5721:Slc6a20b UTSW 9 123611989 missense probably null 1.00
R6108:Slc6a20b UTSW 9 123596186 missense probably benign 0.01
R6285:Slc6a20b UTSW 9 123609096 missense possibly damaging 0.81
R6463:Slc6a20b UTSW 9 123604949 missense possibly damaging 0.62
R7050:Slc6a20b UTSW 9 123598543 missense probably damaging 1.00
Posted On2015-04-16