Incidental Mutation 'IGL02493:Slc5a4b'
ID295733
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 #IGL02493
Quality Score
Status
Chromosome10
Chromosomal Location76057494-76110961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76075015 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 329 (V329A)
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
Predicted Effect probably damaging
Transcript: ENSMUST00000120757
AA Change: V329A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: V329A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124320
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Best3 A T 10: 117,024,601 R589W possibly damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kcnu1 T A 8: 25,937,520 N288K possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mtf1 C T 4: 124,821,319 R246W probably damaging Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Olfr480 A T 7: 108,065,805 M331K possibly damaging Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Rab31 A T 17: 65,717,552 M44K possibly damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Trim6 A G 7: 104,232,640 Y366C probably benign Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown 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
IGL02427:Slc5a4b APN 10 76058879 missense possibly damaging 0.47
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