Incidental Mutation 'IGL02211:Slc5a4b'
ID284730
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 #IGL02211
Quality Score
Status
Chromosome10
Chromosomal Location76057494-76110961 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 76060463 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
Predicted Effect probably benign
Transcript: ENSMUST00000120757
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoc3 C A 9: 46,233,215 probably benign Het
Atp8a2 C T 14: 60,027,976 G304R probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cct4 A G 11: 22,993,327 probably benign Het
Cd28 T C 1: 60,762,994 V24A probably damaging Het
Cfap70 T C 14: 20,394,972 N1080S probably damaging Het
Cpa6 A T 1: 10,595,636 I59K possibly damaging Het
Cramp1l A G 17: 24,977,636 S835P possibly damaging Het
Crim1 T C 17: 78,355,145 L799S probably damaging Het
Cxcl16 T C 11: 70,456,032 H95R possibly damaging Het
Dip2c T A 13: 9,610,847 C915S probably damaging Het
Dytn T A 1: 63,674,930 N137Y possibly damaging Het
Exoc5 T A 14: 49,014,210 Q628L probably damaging Het
Flii A G 11: 60,718,298 probably benign Het
Hnrnph3 A T 10: 63,017,342 probably benign Het
Iqsec1 A G 6: 90,671,609 L830P probably damaging Het
Kank1 G T 19: 25,430,338 G1232V probably damaging Het
Kcnmb2 A G 3: 32,198,334 E228G probably damaging Het
Limk1 A T 5: 134,657,637 V538E probably damaging Het
Mmp20 T A 9: 7,655,070 I393K probably damaging Het
Mtmr1 A G X: 71,412,257 D574G possibly damaging Het
Nr1h2 A C 7: 44,550,460 M345R probably damaging Het
Nyap1 T C 5: 137,739,675 H15R probably damaging Het
Olfr316 G T 11: 58,758,370 S235I possibly damaging Het
Olfr652 A T 7: 104,565,126 K302* probably null Het
Pde4b T G 4: 102,590,822 probably benign Het
Pgrmc2 A G 3: 41,082,633 V121A probably damaging Het
Ptges3 T C 10: 128,076,058 probably benign Het
Ranbp2 T C 10: 58,478,242 S1595P probably benign Het
Rhbdf2 A G 11: 116,600,435 F625L possibly damaging Het
Rhpn1 T C 15: 75,711,056 S281P possibly damaging Het
Samd3 G T 10: 26,233,557 G128W probably damaging Het
Sept5 T C 16: 18,624,879 K51E probably damaging Het
Serpina7 G A X: 139,081,313 T185I probably damaging Het
Slc25a25 A G 2: 32,417,440 V303A probably damaging Het
Srpk3 A T X: 73,775,148 H114L probably benign Het
Sybu T G 15: 44,673,466 Q360P probably damaging Het
Vmn1r179 A T 7: 23,929,205 I274F probably benign Het
Wdsub1 G T 2: 59,858,736 R381S probably damaging Het
Wscd1 G A 11: 71,788,975 R558H probably 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
IGL01990:Slc5a4b APN 10 76060354 missense probably benign 0.01
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 On2015-04-16