Incidental Mutation 'R2339:Slc5a4b'
ID 246677
Institutional Source Beutler Lab
Gene Symbol Slc5a4b
Ensembl Gene ENSMUSG00000020226
Gene Name solute carrier family 5 (neutral amino acid transporters, system A), member 4b
Synonyms SGLT3b, pSGLT2, 2010104G07Rik, SAAT1
MMRRC Submission 040325-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R2339 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75894452-75946852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75944383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 87 (L87F)
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
AlphaFold Q91ZP4
Predicted Effect probably damaging
Transcript: ENSMUST00000120757
AA Change: L87F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: L87F

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Ccdc168 G T 1: 44,100,023 (GRCm39) D358E probably benign Het
Cilp2 A T 8: 70,335,544 (GRCm39) S485T probably benign Het
Cux1 A C 5: 136,315,862 (GRCm39) S1059R probably damaging Het
Dnah5 A G 15: 28,314,028 (GRCm39) D1948G probably benign Het
Fyn A G 10: 39,398,781 (GRCm39) T126A probably benign Het
Gm10134 C T 2: 28,396,141 (GRCm39) S12F probably benign Het
Grm7 T C 6: 111,472,642 (GRCm39) I827T possibly damaging Het
H1f4 T C 13: 23,805,943 (GRCm39) probably benign Het
Hacd4 T A 4: 88,341,336 (GRCm39) probably null Het
Helt T C 8: 46,745,709 (GRCm39) N58S probably damaging Het
Jakmip1 T C 5: 37,248,543 (GRCm39) Y68H probably benign Het
Myof G T 19: 37,926,375 (GRCm39) H1127N probably damaging Het
Nbas A T 12: 13,412,593 (GRCm39) I971L probably benign Het
Or4k39 C T 2: 111,239,534 (GRCm39) T258I probably benign Het
Pakap G A 4: 57,883,180 (GRCm39) R882H probably damaging Het
Peg10 A G 6: 4,756,102 (GRCm39) probably benign Het
Pparg G T 6: 115,428,005 (GRCm39) R164L probably damaging Het
Ppp4r3b A T 11: 29,150,725 (GRCm39) N464Y possibly damaging Het
Ric8b T C 10: 84,805,888 (GRCm39) V333A probably benign Het
Sall2 G A 14: 52,550,813 (GRCm39) S792L probably damaging Het
Sox12 A G 2: 152,238,958 (GRCm39) S221P possibly damaging Het
Tpr T A 1: 150,289,525 (GRCm39) S619T probably benign Het
Trdmt1 G A 2: 13,524,871 (GRCm39) Q195* probably null Het
Trpm2 A T 10: 77,750,640 (GRCm39) probably benign Het
Ttc3 C T 16: 94,232,857 (GRCm39) P1003L probably damaging Het
Upf2 A T 2: 6,044,913 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfp318 C T 17: 46,710,389 (GRCm39) T704I probably benign Het
Other mutations in Slc5a4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Slc5a4b APN 10 75,906,422 (GRCm39) missense probably damaging 1.00
IGL01433:Slc5a4b APN 10 75,906,329 (GRCm39) splice site probably benign
IGL01754:Slc5a4b APN 10 75,906,449 (GRCm39) missense probably damaging 1.00
IGL01904:Slc5a4b APN 10 75,896,260 (GRCm39) missense probably damaging 0.98
IGL01990:Slc5a4b APN 10 75,896,188 (GRCm39) missense probably benign 0.01
IGL02211:Slc5a4b APN 10 75,896,297 (GRCm39) splice site probably benign
IGL02254:Slc5a4b APN 10 75,896,264 (GRCm39) missense probably benign
IGL02389:Slc5a4b APN 10 75,908,299 (GRCm39) nonsense probably null
IGL02427:Slc5a4b APN 10 75,894,713 (GRCm39) missense possibly damaging 0.47
IGL02493:Slc5a4b APN 10 75,910,849 (GRCm39) missense probably damaging 1.00
IGL02554:Slc5a4b APN 10 75,946,685 (GRCm39) missense possibly damaging 0.75
IGL02670:Slc5a4b APN 10 75,910,934 (GRCm39) missense probably damaging 1.00
R0254:Slc5a4b UTSW 10 75,906,462 (GRCm39) missense possibly damaging 0.55
R0285:Slc5a4b UTSW 10 75,898,117 (GRCm39) missense probably damaging 0.99
R0294:Slc5a4b UTSW 10 75,917,161 (GRCm39) missense probably damaging 1.00
R0522:Slc5a4b UTSW 10 75,926,534 (GRCm39) missense probably damaging 0.99
R0601:Slc5a4b UTSW 10 75,899,870 (GRCm39) missense possibly damaging 0.81
R0714:Slc5a4b UTSW 10 75,917,341 (GRCm39) missense probably benign 0.09
R0975:Slc5a4b UTSW 10 75,917,241 (GRCm39) missense probably benign 0.09
R1934:Slc5a4b UTSW 10 75,917,307 (GRCm39) missense possibly damaging 0.51
R2886:Slc5a4b UTSW 10 75,910,907 (GRCm39) missense probably damaging 0.98
R3552:Slc5a4b UTSW 10 75,917,358 (GRCm39) missense probably damaging 0.99
R3890:Slc5a4b UTSW 10 75,898,094 (GRCm39) missense probably benign 0.01
R4012:Slc5a4b UTSW 10 75,910,826 (GRCm39) missense probably damaging 1.00
R4259:Slc5a4b UTSW 10 75,939,686 (GRCm39) missense probably damaging 1.00
R4260:Slc5a4b UTSW 10 75,939,686 (GRCm39) missense probably damaging 1.00
R4471:Slc5a4b UTSW 10 75,894,725 (GRCm39) nonsense probably null
R4667:Slc5a4b UTSW 10 75,910,879 (GRCm39) missense possibly damaging 0.78
R4846:Slc5a4b UTSW 10 75,898,073 (GRCm39) missense probably damaging 0.99
R4939:Slc5a4b UTSW 10 75,917,301 (GRCm39) missense probably benign 0.44
R5181:Slc5a4b UTSW 10 75,896,221 (GRCm39) nonsense probably null
R5319:Slc5a4b UTSW 10 75,898,233 (GRCm39) missense probably benign 0.08
R6306:Slc5a4b UTSW 10 75,917,185 (GRCm39) missense probably benign 0.01
R6422:Slc5a4b UTSW 10 75,939,696 (GRCm39) missense probably damaging 0.97
R6837:Slc5a4b UTSW 10 75,898,220 (GRCm39) missense possibly damaging 0.49
R6997:Slc5a4b UTSW 10 75,925,812 (GRCm39) missense probably damaging 0.97
R7140:Slc5a4b UTSW 10 75,910,943 (GRCm39) missense probably damaging 1.00
R7527:Slc5a4b UTSW 10 75,946,742 (GRCm39) missense probably benign 0.01
R7683:Slc5a4b UTSW 10 75,899,906 (GRCm39) missense probably damaging 0.96
R7718:Slc5a4b UTSW 10 75,906,407 (GRCm39) missense probably damaging 1.00
R7794:Slc5a4b UTSW 10 75,898,133 (GRCm39) missense probably benign 0.19
R7877:Slc5a4b UTSW 10 75,910,886 (GRCm39) missense probably damaging 1.00
R8150:Slc5a4b UTSW 10 75,939,680 (GRCm39) missense possibly damaging 0.93
R8843:Slc5a4b UTSW 10 75,910,925 (GRCm39) missense probably damaging 1.00
R9111:Slc5a4b UTSW 10 75,925,827 (GRCm39) splice site probably benign
R9163:Slc5a4b UTSW 10 75,917,165 (GRCm39) nonsense probably null
R9195:Slc5a4b UTSW 10 75,898,149 (GRCm39) missense probably damaging 1.00
R9600:Slc5a4b UTSW 10 75,896,239 (GRCm39) missense probably damaging 1.00
R9643:Slc5a4b UTSW 10 75,945,896 (GRCm39) missense probably benign 0.01
R9656:Slc5a4b UTSW 10 75,944,391 (GRCm39) missense probably damaging 0.98
R9699:Slc5a4b UTSW 10 75,946,674 (GRCm39) missense probably damaging 0.99
X0019:Slc5a4b UTSW 10 75,946,685 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- AATCGTCTAGGGATGCTGAAGG -3'
(R):5'- TCTCAGTCAAAAGCCTTGAGTAAC -3'

Sequencing Primer
(F):5'- TCTAGGGATGCTGAAGGGAAAAG -3'
(R):5'- GAGTGCACTCTCACCAGTTAAATG -3'
Posted On 2014-10-30