Incidental Mutation 'R7103:Slc16a4'
ID 550977
Institutional Source Beutler Lab
Gene Symbol Slc16a4
Ensembl Gene ENSMUSG00000027896
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 4
Synonyms
MMRRC Submission 045195-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7103 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 107291230-107312115 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107311471 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 463 (S463P)
Ref Sequence ENSEMBL: ENSMUSP00000029502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]
AlphaFold Q8R0M8
Predicted Effect probably damaging
Transcript: ENSMUST00000029502
AA Change: S463P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: S463P

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
SMART Domains Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896

DomainStartEndE-ValueType
Pfam:MFS_1 27 375 2.1e-28 PFAM
Pfam:MFS_1 327 462 3.6e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,737,354 (GRCm38) T294A probably damaging Het
Adamtsl2 G A 2: 27,107,461 (GRCm38) V893I probably damaging Het
Amph T A 13: 19,149,738 (GRCm38) D656E probably benign Het
Aoah T C 13: 21,023,315 (GRCm38) F568S probably damaging Het
Atr G A 9: 95,865,372 (GRCm38) G236S probably damaging Het
Brd3 T A 2: 27,450,394 (GRCm38) Q601L probably damaging Het
Ccar2 T C 14: 70,141,977 (GRCm38) E524G probably damaging Het
Cog2 T C 8: 124,541,114 (GRCm38) probably null Het
Csnka2ip C A 16: 64,478,757 (GRCm38) V415F unknown Het
Dmp1 A T 5: 104,211,863 (GRCm38) D135V probably damaging Het
Dtna T C 18: 23,653,379 (GRCm38) probably null Het
Endou A G 15: 97,718,929 (GRCm38) S238P probably damaging Het
Ep400 T A 5: 110,733,785 (GRCm38) E779D unknown Het
Fcgbp A G 7: 28,084,962 (GRCm38) E149G probably benign Het
G6pc C A 11: 101,374,587 (GRCm38) probably null Het
Gm13119 C T 4: 144,363,727 (GRCm38) R446C probably benign Het
Gm9573 C A 17: 35,621,540 (GRCm38) A585S unknown Het
Gmeb1 T C 4: 132,234,868 (GRCm38) H160R probably damaging Het
Gramd1b T C 9: 40,401,606 (GRCm38) Y22C unknown Het
Hcrtr2 C T 9: 76,254,511 (GRCm38) G199D probably benign Het
Hoxb2 T C 11: 96,353,621 (GRCm38) F353L possibly damaging Het
Itpr2 C A 6: 146,325,074 (GRCm38) V1391F probably damaging Het
Jakmip2 T A 18: 43,540,583 (GRCm38) probably null Het
Kcnmb4 T C 10: 116,473,259 (GRCm38) Y88C possibly damaging Het
Kif1a T C 1: 93,077,785 (GRCm38) Y89C probably damaging Het
Kif23 T A 9: 61,919,892 (GRCm38) K892N probably damaging Het
Lama3 T A 18: 12,531,879 (GRCm38) S646T probably benign Het
Lig3 T A 11: 82,797,312 (GRCm38) M709K probably benign Het
Mgea5 G A 19: 45,783,166 (GRCm38) probably benign Het
Mindy3 C A 2: 12,401,074 (GRCm38) A137S possibly damaging Het
Mis18bp1 T C 12: 65,149,283 (GRCm38) E569G possibly damaging Het
Misp T A 10: 79,827,165 (GRCm38) L472Q probably damaging Het
Mrps5 A T 2: 127,601,410 (GRCm38) T303S probably damaging Het
Msh3 T G 13: 92,274,800 (GRCm38) I630L probably benign Het
Myo16 A G 8: 10,569,673 (GRCm38) Y1408C unknown Het
N4bp2 T C 5: 65,806,846 (GRCm38) V746A probably benign Het
Olfr1225 A G 2: 89,170,483 (GRCm38) I243T possibly damaging Het
Olfr1423 A G 19: 12,036,388 (GRCm38) M118T probably damaging Het
Olfr477 A G 7: 107,990,598 (GRCm38) T78A possibly damaging Het
Ostf1 C T 19: 18,596,351 (GRCm38) M44I probably null Het
Pik3c2b T G 1: 133,105,974 (GRCm38) L1572R probably damaging Het
Pilra T C 5: 137,831,226 (GRCm38) D192G possibly damaging Het
Pkhd1l1 A G 15: 44,573,631 (GRCm38) I3462V probably benign Het
Plekhh1 A G 12: 79,066,655 (GRCm38) D619G probably benign Het
Ptprb T A 10: 116,338,813 (GRCm38) Y797N probably damaging Het
Rb1 T C 14: 73,262,644 (GRCm38) D521G probably damaging Het
Rnf17 T G 14: 56,471,306 (GRCm38) F728V possibly damaging Het
Slc4a1 A T 11: 102,353,867 (GRCm38) I634K probably damaging Het
Slc4a1ap T C 5: 31,543,857 (GRCm38) V634A probably benign Het
Spam1 A G 6: 24,800,584 (GRCm38) M441V probably benign Het
Teddm3 A C 16: 21,152,979 (GRCm38) L280* probably null Het
Tmem231 T C 8: 111,918,885 (GRCm38) probably null Het
Tom1l1 T C 11: 90,671,081 (GRCm38) probably null Het
Topors C T 4: 40,261,706 (GRCm38) G526D probably benign Het
Trpm6 A T 19: 18,813,547 (GRCm38) I649F possibly damaging Het
Ttc16 T A 2: 32,774,428 (GRCm38) M66L probably benign Het
Tubgcp6 A G 15: 89,101,029 (GRCm38) F1619L probably damaging Het
Vps13d G T 4: 145,115,492 (GRCm38) A2619E Het
Vps8 G A 16: 21,526,441 (GRCm38) R838H probably damaging Het
Vwde T A 6: 13,215,800 (GRCm38) M86L probably benign Het
Zfp64 A T 2: 168,926,437 (GRCm38) D418E probably benign Het
Zfp952 C T 17: 33,003,632 (GRCm38) P362S possibly damaging Het
Zglp1 T C 9: 21,066,072 (GRCm38) E149G probably benign Het
Other mutations in Slc16a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Slc16a4 APN 3 107,303,100 (GRCm38) missense possibly damaging 0.67
IGL01311:Slc16a4 APN 3 107,292,505 (GRCm38) missense possibly damaging 0.83
IGL01509:Slc16a4 APN 3 107,311,434 (GRCm38) critical splice acceptor site probably null
IGL01780:Slc16a4 APN 3 107,303,099 (GRCm38) missense probably benign 0.00
IGL02294:Slc16a4 APN 3 107,301,068 (GRCm38) missense probably benign 0.00
IGL02350:Slc16a4 APN 3 107,303,099 (GRCm38) missense probably benign 0.00
IGL02357:Slc16a4 APN 3 107,303,099 (GRCm38) missense probably benign 0.00
IGL02792:Slc16a4 APN 3 107,298,877 (GRCm38) missense probably benign
IGL02873:Slc16a4 APN 3 107,300,795 (GRCm38) missense probably benign 0.00
IGL03001:Slc16a4 APN 3 107,311,542 (GRCm38) missense possibly damaging 0.91
IGL03002:Slc16a4 APN 3 107,300,786 (GRCm38) missense probably benign 0.07
R0370:Slc16a4 UTSW 3 107,301,097 (GRCm38) missense possibly damaging 0.66
R0525:Slc16a4 UTSW 3 107,297,939 (GRCm38) splice site probably benign
R1192:Slc16a4 UTSW 3 107,298,873 (GRCm38) missense probably benign 0.07
R1458:Slc16a4 UTSW 3 107,300,932 (GRCm38) missense probably benign 0.00
R1939:Slc16a4 UTSW 3 107,301,001 (GRCm38) missense probably benign 0.00
R2061:Slc16a4 UTSW 3 107,300,711 (GRCm38) missense probably benign 0.00
R2098:Slc16a4 UTSW 3 107,300,847 (GRCm38) nonsense probably null
R2102:Slc16a4 UTSW 3 107,304,503 (GRCm38) splice site probably null
R3411:Slc16a4 UTSW 3 107,300,872 (GRCm38) missense probably benign
R4983:Slc16a4 UTSW 3 107,300,860 (GRCm38) missense probably benign 0.00
R5394:Slc16a4 UTSW 3 107,292,442 (GRCm38) missense probably benign
R5804:Slc16a4 UTSW 3 107,298,964 (GRCm38) missense probably benign 0.04
R6077:Slc16a4 UTSW 3 107,301,065 (GRCm38) missense possibly damaging 0.91
R6626:Slc16a4 UTSW 3 107,301,196 (GRCm38) missense possibly damaging 0.95
R6693:Slc16a4 UTSW 3 107,303,064 (GRCm38) missense probably damaging 1.00
R6811:Slc16a4 UTSW 3 107,298,917 (GRCm38) missense probably benign 0.06
R6823:Slc16a4 UTSW 3 107,311,498 (GRCm38) missense probably benign 0.02
R6982:Slc16a4 UTSW 3 107,299,273 (GRCm38) missense probably benign 0.01
R7050:Slc16a4 UTSW 3 107,300,832 (GRCm38) missense probably benign
R7608:Slc16a4 UTSW 3 107,303,127 (GRCm38) missense probably damaging 1.00
R7623:Slc16a4 UTSW 3 107,297,981 (GRCm38) missense possibly damaging 0.71
R8013:Slc16a4 UTSW 3 107,311,478 (GRCm38) missense probably damaging 1.00
R8014:Slc16a4 UTSW 3 107,311,478 (GRCm38) missense probably damaging 1.00
R8713:Slc16a4 UTSW 3 107,311,585 (GRCm38) makesense probably null
R8876:Slc16a4 UTSW 3 107,300,785 (GRCm38) missense probably benign 0.12
R9266:Slc16a4 UTSW 3 107,292,472 (GRCm38) missense probably benign 0.10
R9661:Slc16a4 UTSW 3 107,306,043 (GRCm38) missense probably benign
X0018:Slc16a4 UTSW 3 107,300,815 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGCCCTATTTAAGTCCAATGGC -3'
(R):5'- AGTTGACATTCCTGGCAGTGC -3'

Sequencing Primer
(F):5'- GTCCAATGGCTCACAATATGGACTG -3'
(R):5'- CATTCCTGGCAGTGCTAAGAAAG -3'
Posted On 2019-05-15