Incidental Mutation 'IGL01990:Slc5a4b'
ID182023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a4b
Ensembl Gene ENSMUSG00000020226
Gene Namesolute carrier family 5 (neutral amino acid transporters, system A), member 4b
SynonymspSGLT2, SGLT3b, 2010104G07Rik, SAAT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01990
Quality Score
Status
Chromosome10
Chromosomal Location76057494-76110961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76060354 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 589 (E589G)
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
Predicted Effect probably benign
Transcript: ENSMUST00000120757
AA Change: E589G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: E589G

DomainStartEndE-ValueType
low complexity region 16 21 N/A INTRINSIC
Pfam:SSF 58 492 1.4e-163 PFAM
transmembrane domain 526 548 N/A INTRINSIC
transmembrane domain 640 659 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,434,094 N376S probably benign Het
Adgrv1 T C 13: 81,556,996 D1565G probably damaging Het
Atf5 T G 7: 44,813,049 D217A probably damaging Het
Azgp1 T C 5: 137,989,735 W260R probably damaging Het
Cnr2 C T 4: 135,916,805 R65C probably damaging Het
Col14a1 A G 15: 55,363,463 Y203C unknown Het
Colec11 A G 12: 28,594,986 Y170H probably benign Het
Exosc10 A G 4: 148,566,410 Q471R possibly damaging Het
Gal3st1 G T 11: 3,998,741 W316L probably damaging Het
Igfbp3 C A 11: 7,208,504 R253L probably damaging Het
Kcnb2 A T 1: 15,312,954 D168V probably benign Het
Khnyn T G 14: 55,887,588 I433S possibly damaging Het
Naaa T A 5: 92,268,063 T193S possibly damaging Het
Nsun7 G A 5: 66,261,073 D49N probably damaging Het
Pappa T C 4: 65,156,687 probably benign Het
Pfkfb2 A G 1: 130,705,370 probably benign Het
Pkd1l3 C T 8: 109,660,806 T1794I probably damaging Het
Prex2 A C 1: 11,123,233 probably benign Het
Slc2a7 T G 4: 150,154,684 I122S possibly damaging Het
Slc31a2 A G 4: 62,295,970 K53E probably benign Het
Slc35f4 C T 14: 49,304,169 probably null Het
Slc38a7 C T 8: 95,844,962 W213* probably null Het
Syne2 A G 12: 76,054,933 N5407S probably damaging Het
Tgm2 A T 2: 158,124,131 D534E probably benign Het
Ugt1a7c A G 1: 88,095,602 Y161C probably damaging Het
Vmn2r114 A G 17: 23,310,381 M249T probably benign Het
Xkr9 A G 1: 13,700,979 I240V probably benign Het
Zfat A G 15: 68,224,817 L49P probably damaging Het
Zfhx2 G T 14: 55,073,590 P549H probably damaging Het
Zfp551 C T 7: 12,422,416 V25M possibly damaging Het
Other mutations in Slc5a4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Slc5a4b APN 10 76070588 missense probably damaging 1.00
IGL01433:Slc5a4b APN 10 76070495 splice site probably benign
IGL01754:Slc5a4b APN 10 76070615 missense probably damaging 1.00
IGL01904:Slc5a4b APN 10 76060426 missense probably damaging 0.98
IGL02211:Slc5a4b APN 10 76060463 splice site probably benign
IGL02254:Slc5a4b APN 10 76060430 missense probably benign
IGL02389:Slc5a4b APN 10 76072465 nonsense probably null
IGL02427:Slc5a4b APN 10 76058879 missense possibly damaging 0.47
IGL02493:Slc5a4b APN 10 76075015 missense probably damaging 1.00
IGL02554:Slc5a4b APN 10 76110851 missense possibly damaging 0.75
IGL02670:Slc5a4b APN 10 76075100 missense probably damaging 1.00
R0254:Slc5a4b UTSW 10 76070628 missense possibly damaging 0.55
R0285:Slc5a4b UTSW 10 76062283 missense probably damaging 0.99
R0294:Slc5a4b UTSW 10 76081327 missense probably damaging 1.00
R0522:Slc5a4b UTSW 10 76090700 missense probably damaging 0.99
R0601:Slc5a4b UTSW 10 76064036 missense possibly damaging 0.81
R0714:Slc5a4b UTSW 10 76081507 missense probably benign 0.09
R0975:Slc5a4b UTSW 10 76081407 missense probably benign 0.09
R1934:Slc5a4b UTSW 10 76081473 missense possibly damaging 0.51
R2339:Slc5a4b UTSW 10 76108549 missense probably damaging 1.00
R2886:Slc5a4b UTSW 10 76075073 missense probably damaging 0.98
R3552:Slc5a4b UTSW 10 76081524 missense probably damaging 0.99
R3890:Slc5a4b UTSW 10 76062260 missense probably benign 0.01
R4012:Slc5a4b UTSW 10 76074992 missense probably damaging 1.00
R4259:Slc5a4b UTSW 10 76103852 missense probably damaging 1.00
R4260:Slc5a4b UTSW 10 76103852 missense probably damaging 1.00
R4471:Slc5a4b UTSW 10 76058891 nonsense probably null
R4667:Slc5a4b UTSW 10 76075045 missense possibly damaging 0.78
R4846:Slc5a4b UTSW 10 76062239 missense probably damaging 0.99
R4939:Slc5a4b UTSW 10 76081467 missense probably benign 0.44
R5181:Slc5a4b UTSW 10 76060387 nonsense probably null
R5319:Slc5a4b UTSW 10 76062399 missense probably benign 0.08
R6306:Slc5a4b UTSW 10 76081351 missense probably benign 0.01
R6422:Slc5a4b UTSW 10 76103862 missense probably damaging 0.97
R6837:Slc5a4b UTSW 10 76062386 missense possibly damaging 0.49
R6997:Slc5a4b UTSW 10 76089978 missense probably damaging 0.97
R7140:Slc5a4b UTSW 10 76075109 missense probably damaging 1.00
R7527:Slc5a4b UTSW 10 76110908 missense probably benign 0.01
R7683:Slc5a4b UTSW 10 76064072 missense probably damaging 0.96
R7718:Slc5a4b UTSW 10 76070573 missense probably damaging 1.00
R7794:Slc5a4b UTSW 10 76062299 missense probably benign 0.19
R7877:Slc5a4b UTSW 10 76075052 missense probably damaging 1.00
R8150:Slc5a4b UTSW 10 76103846 missense possibly damaging 0.93
X0019:Slc5a4b UTSW 10 76110851 missense possibly damaging 0.75
Posted On2014-05-07