Incidental Mutation 'R9699:Slc5a4b'
ID 729483
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R9699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 75894452-75946852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75946674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 33 (V33F)
Ref Sequence ENSEMBL: ENSMUSP00000113582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120757]
AlphaFold Q91ZP4
Predicted Effect probably damaging
Transcript: ENSMUST00000120757
AA Change: V33F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: V33F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik G T 1: 57,416,927 (GRCm39) R33L probably benign Het
Abhd16b A T 2: 181,136,518 (GRCm39) R473S probably benign Het
Adcyap1r1 A G 6: 55,474,140 (GRCm39) D492G probably damaging Het
Ano5 A T 7: 51,229,309 (GRCm39) N617I probably damaging Het
Cdh15 A G 8: 123,588,769 (GRCm39) E281G probably benign Het
Clasp2 T A 9: 113,738,614 (GRCm39) probably null Het
Dock8 G A 19: 25,133,388 (GRCm39) probably null Het
Dscaml1 T C 9: 45,654,315 (GRCm39) V1449A probably damaging Het
Ercc6 A G 14: 32,282,703 (GRCm39) D732G probably damaging Het
Fam174c T A 10: 80,010,161 (GRCm39) probably null Het
Fhip2b A T 14: 70,825,179 (GRCm39) S386T possibly damaging Het
Gimap6 T C 6: 48,684,951 (GRCm39) E45G probably benign Het
Glt1d1 C A 5: 127,771,364 (GRCm39) T285K probably damaging Het
Gm14412 A T 2: 177,007,636 (GRCm39) Y86* probably null Het
Grip2 A G 6: 91,742,318 (GRCm39) S912P probably benign Het
Gucy2d T A 7: 98,108,290 (GRCm39) I741N probably damaging Het
Hrh2 A T 13: 54,368,299 (GRCm39) N92Y probably damaging Het
Klrc2 T A 6: 129,637,452 (GRCm39) Q23L possibly damaging Het
Patl2 T C 2: 121,955,591 (GRCm39) D285G probably damaging Het
Prpf40a A G 2: 53,035,735 (GRCm39) V685A probably benign Het
Rspry1 A G 8: 95,380,857 (GRCm39) H511R probably benign Het
Scarb1 G T 5: 125,374,296 (GRCm39) A279E probably damaging Het
Sell A G 1: 163,893,114 (GRCm39) E110G probably damaging Het
Sftpc A T 14: 70,760,143 (GRCm39) I38N probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Smad7 A G 18: 75,527,161 (GRCm39) S336G probably damaging Het
Tnpo3 C T 6: 29,565,768 (GRCm39) V529I probably benign Het
Trafd1 A G 5: 121,517,727 (GRCm39) V22A probably benign Het
Tssk1 A G 16: 17,712,545 (GRCm39) E110G probably damaging Het
Vmn1r159 A T 7: 22,542,675 (GRCm39) V119D probably damaging Het
Vmn1r191 A G 13: 22,363,355 (GRCm39) F133S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp830 C T 11: 82,655,805 (GRCm39) T203I possibly damaging Het
Zw10 G T 9: 48,966,942 (GRCm39) 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
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
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
X0019:Slc5a4b UTSW 10 75,946,685 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- AGTTGCCTTAGGAATGAGCCC -3'
(R):5'- GCCTGAGGGTTGATCATTAATCC -3'

Sequencing Primer
(F):5'- TAGGAATGAGCCCACTGTGCATTAC -3'
(R):5'- GGGTTGATCATTAATCCAGTGCCTAC -3'
Posted On 2022-10-06