Incidental Mutation 'IGL02427:Slc5a4b'
ID292929
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: 0.185) question?
Stock #IGL02427
Quality Score
Status
Chromosome10
Chromosomal Location76057494-76110961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76058879 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 598 (C598S)
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
Predicted Effect possibly damaging
Transcript: ENSMUST00000120757
AA Change: C598S

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: C598S

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,244,788 V647E probably damaging Het
A930011G23Rik C T 5: 99,233,970 G311D probably damaging Het
Ablim1 A T 19: 57,079,880 probably benign Het
Adgrg2 T C X: 160,491,404 F863S probably damaging Het
B3galt2 A T 1: 143,646,516 H130L probably benign Het
Bbs2 G A 8: 94,081,118 P378S possibly damaging Het
Ccdc154 A T 17: 25,171,757 probably null Het
Ccdc88c C T 12: 100,921,592 C1543Y probably damaging Het
Cfap77 A T 2: 28,955,580 C258* probably null Het
Cpsf4l T G 11: 113,709,498 probably benign Het
Csrnp3 G A 2: 65,878,036 probably benign Het
Cul9 G A 17: 46,502,632 T2305I possibly damaging Het
Cwf19l1 G A 19: 44,133,023 Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 V717L probably benign Het
Cyp1a1 A G 9: 57,700,575 Y162C probably damaging Het
Dlg5 T C 14: 24,166,207 D589G probably damaging Het
Dmbt1 G T 7: 131,088,085 probably null Het
Dtna T C 18: 23,651,538 Y705H possibly damaging Het
Fam129a A T 1: 151,717,274 D570V probably damaging Het
Fancd2 T A 6: 113,549,352 probably null Het
Frem2 T A 3: 53,535,763 N2527Y probably damaging Het
Gm7694 T C 1: 170,302,544 D95G probably benign Het
Haus5 T C 7: 30,661,771 T115A probably benign Het
Kdm3a A T 6: 71,592,200 probably benign Het
Klra6 T C 6: 130,016,717 D197G possibly damaging Het
Lap3 T C 5: 45,511,133 V429A probably damaging Het
Mroh2b G T 15: 4,951,560 probably benign Het
Myh9 T A 15: 77,775,804 Q88L probably damaging Het
Myo5a T C 9: 75,176,618 probably benign Het
Negr1 C T 3: 156,562,190 probably benign Het
Nlrp9b T G 7: 20,042,501 C337W probably damaging Het
Obscn A T 11: 59,067,162 C3780S probably damaging Het
Olfr378 A T 11: 73,425,661 F107L probably damaging Het
Piwil2 T A 14: 70,398,134 probably benign Het
Ppp6r3 T C 19: 3,466,580 S213G probably null Het
Pxdn T A 12: 29,984,532 C39S probably damaging Het
Raf1 T C 6: 115,631,327 N241S probably benign Het
Rapgef3 A T 15: 97,747,136 probably null Het
Rhox2h C T X: 37,672,873 G72D probably benign Het
Sbf1 T C 15: 89,305,985 probably benign Het
Sema5a T C 15: 32,673,544 probably benign Het
Setbp1 T C 18: 78,857,473 D993G probably damaging Het
Sorl1 T C 9: 42,041,690 D685G probably damaging Het
Sulf2 C T 2: 166,089,298 R263H probably damaging Het
Tbx22 C A X: 107,681,171 P17T probably damaging Het
Tspoap1 A T 11: 87,762,515 T136S probably benign Het
Tyw5 T C 1: 57,388,725 E240G possibly damaging Het
Umodl1 C T 17: 30,968,441 probably benign Het
Vmn1r60 T C 7: 5,544,781 T107A probably damaging Het
Zbbx T C 3: 75,139,598 T121A probably benign Het
Zbtb11 A G 16: 55,982,350 D241G possibly damaging Het
Zfp445 T C 9: 122,852,230 H882R probably benign Het
Zscan30 T C 18: 23,971,476 noncoding transcript 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
IGL01990:Slc5a4b APN 10 76060354 missense probably benign 0.01
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
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
X0019:Slc5a4b UTSW 10 76110851 missense possibly damaging 0.75
Posted On2015-04-16