Incidental Mutation 'R9111:Slc5a4b'
ID 723516
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 068971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R9111 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75894452-75946852 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 75925827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
AlphaFold Q91ZP4
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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,696,646 (GRCm39) N210S Het
Adamts17 A G 7: 66,489,648 (GRCm39) D22G probably damaging Het
Aldh3b1 T C 19: 3,971,797 (GRCm39) E58G probably damaging Het
Atg2a G A 19: 6,311,534 (GRCm39) A1830T probably damaging Het
Birc6 T C 17: 74,966,340 (GRCm39) V4118A probably damaging Het
Ccdc28a G A 10: 18,100,750 (GRCm39) P73S possibly damaging Het
Cdc42bpb A T 12: 111,284,903 (GRCm39) D771E probably benign Het
Cdk14 G A 5: 5,315,985 (GRCm39) P13S possibly damaging Het
Cdr2 G A 7: 120,559,345 (GRCm39) S158F possibly damaging Het
Cfap44 A T 16: 44,252,326 (GRCm39) T812S probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cp A T 3: 20,027,949 (GRCm39) I452F probably damaging Het
Dcdc2c T A 12: 28,585,488 (GRCm39) I2F probably damaging Het
Dlat G A 9: 50,570,906 (GRCm39) probably benign Het
Dock1 A G 7: 134,601,017 (GRCm39) D984G possibly damaging Het
Dsc2 T C 18: 20,167,764 (GRCm39) I710V probably benign Het
Eif4e A G 3: 138,252,122 (GRCm39) E20G probably benign Het
Fbxw16 T C 9: 109,265,679 (GRCm39) Y380C probably damaging Het
Fscn3 A G 6: 28,430,310 (GRCm39) D160G probably damaging Het
Gm9195 G A 14: 72,694,123 (GRCm39) Q1531* probably null Het
Hps3 T C 3: 20,084,575 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igsf1 C T X: 48,875,736 (GRCm39) E755K probably null Het
Kalrn A G 16: 34,181,371 (GRCm39) V89A probably damaging Het
Kcng1 C A 2: 168,104,535 (GRCm39) G437V probably damaging Het
Krt82 C T 15: 101,451,786 (GRCm39) R343Q probably benign Het
Lbr T C 1: 181,645,068 (GRCm39) D528G possibly damaging Het
Macf1 T C 4: 123,406,819 (GRCm39) E256G probably damaging Het
Mier2 T C 10: 79,381,285 (GRCm39) probably benign Het
Mmp9 T A 2: 164,792,726 (GRCm39) probably null Het
Myrf A G 19: 10,191,421 (GRCm39) probably null Het
Ncor1 T A 11: 62,280,585 (GRCm39) T82S possibly damaging Het
Or4c107 G A 2: 88,789,055 (GRCm39) V82I probably benign Het
P2rx6 G T 16: 17,385,627 (GRCm39) W176L probably benign Het
Pde4b A G 4: 102,454,657 (GRCm39) E108G probably damaging Het
Pik3c2a A G 7: 115,993,531 (GRCm39) V412A probably damaging Het
Prkd2 A G 7: 16,584,131 (GRCm39) E328G probably benign Het
Prmt1 A C 7: 44,631,169 (GRCm39) V114G probably damaging Het
Rnf133 G A 6: 23,648,928 (GRCm39) H334Y probably benign Het
Rps18-ps5 T A 13: 28,441,626 (GRCm39) L3Q probably damaging Het
Secisbp2l A G 2: 125,602,206 (GRCm39) S385P probably benign Het
Sel1l3 A T 5: 53,279,213 (GRCm39) probably benign Het
Sf3a2 ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT 10: 80,640,271 (GRCm39) probably benign Het
Sfpq CCAGCAGCAGCAGCAGC CCAGCAGCAGCAGC 4: 126,915,401 (GRCm39) probably benign Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Slc9a3 A G 13: 74,298,920 (GRCm39) Y113C probably damaging Het
Ugt3a1 T C 15: 9,306,333 (GRCm39) F161L possibly damaging Het
Zhx2 T C 15: 57,685,984 (GRCm39) I451T probably damaging 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
R2339:Slc5a4b UTSW 10 75,944,383 (GRCm39) missense probably damaging 1.00
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
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'- TGTAAAACCAGGAGGCAACATTAC -3'
(R):5'- TCCACCAGTAATTCACAGAACTTTG -3'

Sequencing Primer
(F):5'- CCAGGAGGCAACATTACAGAAC -3'
(R):5'- CACAGAACTTTGTATCTCAGTGAGAC -3'
Posted On 2022-08-15