Incidental Mutation 'IGL02670:Slc5a4b'
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ID302897
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: 0.110) question?
Stock #IGL02670
Quality Score
Status
Chromosome10
Chromosomal Location76057494-76110961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76075100 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 301 (C301R)
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
Predicted Effect probably damaging
Transcript: ENSMUST00000120757
AA Change: C301R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: C301R

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 36,967,305 Q2193* probably null Het
Asb1 T C 1: 91,546,918 probably benign Het
Cnot6 G A 11: 49,685,114 Q178* probably null Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp27b1 T C 10: 127,050,358 S303P probably benign Het
Dnah5 T C 15: 28,409,296 L3620P probably damaging Het
Dock7 A T 4: 98,966,286 probably null Het
Fam161b T C 12: 84,357,594 D104G probably benign Het
Fam8a1 A G 13: 46,673,604 M284V possibly damaging Het
Fkbp3 T A 12: 65,069,103 K65* probably null Het
Gatb A G 3: 85,613,551 probably null Het
Gm572 A T 4: 148,651,228 H38L probably benign Het
Gm6576 A C 15: 27,025,512 noncoding transcript Het
L2hgdh G A 12: 69,692,480 R406W possibly damaging Het
Lmo7 A T 14: 101,880,980 T214S probably damaging Het
Map3k12 T C 15: 102,503,546 H361R probably benign Het
Mios T C 6: 8,235,378 probably benign Het
Mta1 T C 12: 113,130,121 L315P probably damaging Het
Pask A C 1: 93,310,818 V1315G probably damaging Het
Pias4 A T 10: 81,164,070 C50S probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sgk1 T A 10: 21,928,546 C92S probably benign Het
Slc2a13 C T 15: 91,497,509 G259E probably damaging Het
Sstr4 G T 2: 148,396,533 G355* probably null Het
Tnrc6a T A 7: 123,171,312 L775Q possibly damaging Het
Vmn1r218 A G 13: 23,137,004 I94V probably benign Het
Xpa A G 4: 46,185,682 F99L probably benign 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
IGL02493:Slc5a4b APN 10 76075015 missense probably damaging 1.00
IGL02554:Slc5a4b APN 10 76110851 missense possibly damaging 0.75
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