Incidental Mutation 'R5804:Slc16a4'
ID 448393
Institutional Source Beutler Lab
Gene Symbol Slc16a4
Ensembl Gene ENSMUSG00000027896
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 4
Synonyms
MMRRC Submission 043211-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5804 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107198546-107219431 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107206280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 117 (M117L)
Ref Sequence ENSEMBL: ENSMUSP00000102334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]
AlphaFold Q8R0M8
Predicted Effect probably benign
Transcript: ENSMUST00000029502
AA Change: M117L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: M117L

DomainStartEndE-ValueType
Pfam:MFS_1 27 373 8.2e-26 PFAM
Pfam:MFS_1 305 499 2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106723
AA Change: M117L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: M117L

DomainStartEndE-ValueType
Pfam:MFS_1 27 375 2.1e-28 PFAM
Pfam:MFS_1 327 462 3.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153322
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,396,100 (GRCm39) R19* probably null Het
Abcb9 A G 5: 124,218,118 (GRCm39) M406T probably benign Het
Ager A G 17: 34,817,157 (GRCm39) E32G probably damaging Het
Cdk10 T A 8: 123,955,579 (GRCm39) probably null Het
Cfap97d1 A G 11: 101,881,640 (GRCm39) N112S probably damaging Het
Ctsl A T 13: 64,514,302 (GRCm39) Y259N probably damaging Het
Ctu2 T C 8: 123,207,965 (GRCm39) probably null Het
Dse T A 10: 34,029,375 (GRCm39) I572F possibly damaging Het
Flt1 A T 5: 147,517,247 (GRCm39) probably null Het
Gatm T A 2: 122,433,083 (GRCm39) Y193F probably benign Het
Gpaa1 T C 15: 76,216,826 (GRCm39) F170S probably damaging Het
Grm3 A G 5: 9,620,155 (GRCm39) L363P probably benign Het
Heatr5b G A 17: 79,138,951 (GRCm39) P64S probably damaging Het
Hfm1 A G 5: 107,026,455 (GRCm39) probably null Het
Hivep2 A C 10: 14,009,519 (GRCm39) K1725N probably benign Het
Hmcn1 A T 1: 150,550,098 (GRCm39) C2695* probably null Het
Hmgcr G A 13: 96,802,695 (GRCm39) T68M probably damaging Het
Igsf21 A T 4: 139,755,385 (GRCm39) D423E possibly damaging Het
Jag1 T C 2: 136,930,124 (GRCm39) N751S probably benign Het
Klrc2 A T 6: 129,637,436 (GRCm39) N28K possibly damaging Het
Lrrc8c A T 5: 105,727,423 (GRCm39) D29V possibly damaging Het
Mtcl1 A C 17: 66,650,132 (GRCm39) S1329A probably benign Het
Nin C T 12: 70,092,375 (GRCm39) V645I possibly damaging Het
Or4c127 T C 2: 89,833,332 (GRCm39) I194T possibly damaging Het
Or51i1 T C 7: 103,671,439 (GRCm39) I29V probably benign Het
Or8s2 T A 15: 98,276,215 (GRCm39) M259L probably benign Het
Or9g4 T A 2: 85,504,682 (GRCm39) D271V probably damaging Het
Pfpl A T 19: 12,407,027 (GRCm39) H426L probably benign Het
Poteg A G 8: 27,946,826 (GRCm39) D238G probably damaging Het
Psen1 T C 12: 83,778,474 (GRCm39) F386L probably damaging Het
Rassf9 A T 10: 102,380,905 (GRCm39) I96F probably damaging Het
Robo1 T C 16: 72,840,077 (GRCm39) probably null Het
Slc4a8 A G 15: 100,689,506 (GRCm39) N372S possibly damaging Het
Stmn4 G A 14: 66,593,748 (GRCm39) G47D probably benign Het
Tex26 A G 5: 149,386,612 (GRCm39) N137S possibly damaging Het
Ttn T A 2: 76,747,163 (GRCm39) I4629F probably benign Het
Ubash3a G A 17: 31,427,206 (GRCm39) probably null Het
Ube3d T C 9: 86,307,401 (GRCm39) I233V probably benign Het
Utrn T A 10: 12,297,369 (GRCm39) T680S probably damaging Het
Vps13d G A 4: 144,826,640 (GRCm39) T2846I probably benign Het
Zbtb22 TGGACCCGGGAC TGGACCCGGGACCCGGGAC 17: 34,137,593 (GRCm39) probably null Het
Zfp41 C T 15: 75,490,557 (GRCm39) P170S probably damaging Het
Other mutations in Slc16a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Slc16a4 APN 3 107,210,416 (GRCm39) missense possibly damaging 0.67
IGL01311:Slc16a4 APN 3 107,199,821 (GRCm39) missense possibly damaging 0.83
IGL01509:Slc16a4 APN 3 107,218,750 (GRCm39) critical splice acceptor site probably null
IGL01780:Slc16a4 APN 3 107,210,415 (GRCm39) missense probably benign 0.00
IGL02294:Slc16a4 APN 3 107,208,384 (GRCm39) missense probably benign 0.00
IGL02350:Slc16a4 APN 3 107,210,415 (GRCm39) missense probably benign 0.00
IGL02357:Slc16a4 APN 3 107,210,415 (GRCm39) missense probably benign 0.00
IGL02792:Slc16a4 APN 3 107,206,193 (GRCm39) missense probably benign
IGL02873:Slc16a4 APN 3 107,208,111 (GRCm39) missense probably benign 0.00
IGL03001:Slc16a4 APN 3 107,218,858 (GRCm39) missense possibly damaging 0.91
IGL03002:Slc16a4 APN 3 107,208,102 (GRCm39) missense probably benign 0.07
R0370:Slc16a4 UTSW 3 107,208,413 (GRCm39) missense possibly damaging 0.66
R0525:Slc16a4 UTSW 3 107,205,255 (GRCm39) splice site probably benign
R1192:Slc16a4 UTSW 3 107,206,189 (GRCm39) missense probably benign 0.07
R1458:Slc16a4 UTSW 3 107,208,248 (GRCm39) missense probably benign 0.00
R1939:Slc16a4 UTSW 3 107,208,317 (GRCm39) missense probably benign 0.00
R2061:Slc16a4 UTSW 3 107,208,027 (GRCm39) missense probably benign 0.00
R2098:Slc16a4 UTSW 3 107,208,163 (GRCm39) nonsense probably null
R2102:Slc16a4 UTSW 3 107,211,819 (GRCm39) splice site probably null
R3411:Slc16a4 UTSW 3 107,208,188 (GRCm39) missense probably benign
R4983:Slc16a4 UTSW 3 107,208,176 (GRCm39) missense probably benign 0.00
R5394:Slc16a4 UTSW 3 107,199,758 (GRCm39) missense probably benign
R6077:Slc16a4 UTSW 3 107,208,381 (GRCm39) missense possibly damaging 0.91
R6626:Slc16a4 UTSW 3 107,208,512 (GRCm39) missense possibly damaging 0.95
R6693:Slc16a4 UTSW 3 107,210,380 (GRCm39) missense probably damaging 1.00
R6811:Slc16a4 UTSW 3 107,206,233 (GRCm39) missense probably benign 0.06
R6823:Slc16a4 UTSW 3 107,218,814 (GRCm39) missense probably benign 0.02
R6982:Slc16a4 UTSW 3 107,206,589 (GRCm39) missense probably benign 0.01
R7050:Slc16a4 UTSW 3 107,208,148 (GRCm39) missense probably benign
R7103:Slc16a4 UTSW 3 107,218,787 (GRCm39) missense probably damaging 1.00
R7608:Slc16a4 UTSW 3 107,210,443 (GRCm39) missense probably damaging 1.00
R7623:Slc16a4 UTSW 3 107,205,297 (GRCm39) missense possibly damaging 0.71
R8013:Slc16a4 UTSW 3 107,218,794 (GRCm39) missense probably damaging 1.00
R8014:Slc16a4 UTSW 3 107,218,794 (GRCm39) missense probably damaging 1.00
R8713:Slc16a4 UTSW 3 107,218,901 (GRCm39) makesense probably null
R8876:Slc16a4 UTSW 3 107,208,101 (GRCm39) missense probably benign 0.12
R9266:Slc16a4 UTSW 3 107,199,788 (GRCm39) missense probably benign 0.10
R9661:Slc16a4 UTSW 3 107,213,359 (GRCm39) missense probably benign
X0018:Slc16a4 UTSW 3 107,208,131 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGGATGTCTGAGGATATTAACTTAGC -3'
(R):5'- GCAATTGCTGTAGAAAGGCCC -3'

Sequencing Primer
(F):5'- GAGGATATTAACTTAGCACTTTCCC -3'
(R):5'- CAGGACAGTTTCCTGTTAC -3'
Posted On 2016-12-15