Incidental Mutation 'R6646:Slc16a6'
ID 527981
Institutional Source Beutler Lab
Gene Symbol Slc16a6
Ensembl Gene ENSMUSG00000041920
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 6
Synonyms
MMRRC Submission 044767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6646 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 109341681-109364424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109343988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 518 (M518I)
Ref Sequence ENSEMBL: ENSMUSP00000067423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000070152] [ENSMUST00000070872]
AlphaFold B1AT66
Predicted Effect probably benign
Transcript: ENSMUST00000020929
SMART Domains Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610

DomainStartEndE-ValueType
Pfam:Peptidase_M54 220 302 7.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070152
AA Change: M602I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000065628
Gene: ENSMUSG00000041920
AA Change: M602I

DomainStartEndE-ValueType
Pfam:MFS_1 115 521 7.5e-36 PFAM
transmembrane domain 533 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070872
AA Change: M518I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000067423
Gene: ENSMUSG00000041920
AA Change: M518I

DomainStartEndE-ValueType
Pfam:MFS_1 31 437 2.8e-36 PFAM
transmembrane domain 449 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154875
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,577,343 (GRCm39) N48K probably benign Het
Aldh1a7 C T 19: 20,677,275 (GRCm39) A449T possibly damaging Het
Arhgef28 A G 13: 98,076,002 (GRCm39) V1344A probably benign Het
Carmil3 A T 14: 55,745,387 (GRCm39) E1371D probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dedd2 T C 7: 24,903,038 (GRCm39) D307G probably damaging Het
Dennd6b G T 15: 89,070,387 (GRCm39) F427L probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Doc2a G A 7: 126,450,791 (GRCm39) probably null Het
Dst A G 1: 34,307,888 (GRCm39) T6503A possibly damaging Het
Ehmt1 A T 2: 24,696,322 (GRCm39) I922K probably damaging Het
Gbp9 A G 5: 105,230,769 (GRCm39) I385T probably benign Het
Gipc2 A T 3: 151,799,838 (GRCm39) D297E possibly damaging Het
Krt6b T A 15: 101,585,649 (GRCm39) Q428L probably damaging Het
Loxl4 T C 19: 42,587,220 (GRCm39) D625G probably damaging Het
Lrrn2 C T 1: 132,866,794 (GRCm39) P620S probably benign Het
Msh6 T C 17: 88,293,870 (GRCm39) V875A possibly damaging Het
Nebl T C 2: 17,381,496 (GRCm39) T727A probably damaging Het
Obscn T C 11: 58,973,544 (GRCm39) D1929G possibly damaging Het
Pard3b T C 1: 62,200,280 (GRCm39) V273A probably benign Het
Pcdhb7 T A 18: 37,477,027 (GRCm39) V721E possibly damaging Het
Plaa A T 4: 94,478,215 (GRCm39) H82Q probably benign Het
Plcd1 T A 9: 118,904,100 (GRCm39) Y278F probably damaging Het
Plxnb1 C A 9: 108,937,895 (GRCm39) H1214N probably benign Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Rela T G 19: 5,697,132 (GRCm39) D446E probably damaging Het
Rpap1 T C 2: 119,610,612 (GRCm39) I156V probably benign Het
Rpl15 T C 14: 18,270,040 (GRCm38) Y59C probably damaging Het
Scx C A 15: 76,342,121 (GRCm39) T107N probably damaging Het
Skint5 T A 4: 113,797,974 (GRCm39) K203I possibly damaging Het
Sorbs1 C T 19: 40,313,993 (GRCm39) G940R probably damaging Het
Spata31h1 T A 10: 82,132,664 (GRCm39) E115D unknown Het
Synm A T 7: 67,384,875 (GRCm39) I487K probably damaging Het
Tcerg1l A T 7: 137,996,912 (GRCm39) probably null Het
Vmn2r99 T G 17: 19,600,293 (GRCm39) L439R probably damaging Het
Wdr75 T A 1: 45,838,247 (GRCm39) L52Q probably damaging Het
Zswim2 T A 2: 83,746,128 (GRCm39) R437* probably null Het
Other mutations in Slc16a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03289:Slc16a6 APN 11 109,354,325 (GRCm39) missense probably damaging 1.00
PIT4280001:Slc16a6 UTSW 11 109,349,419 (GRCm39) missense possibly damaging 0.95
R1420:Slc16a6 UTSW 11 109,345,772 (GRCm39) missense probably damaging 0.99
R3902:Slc16a6 UTSW 11 109,349,387 (GRCm39) missense probably damaging 1.00
R4706:Slc16a6 UTSW 11 109,354,193 (GRCm39) missense probably benign 0.45
R4707:Slc16a6 UTSW 11 109,354,193 (GRCm39) missense probably benign 0.45
R5940:Slc16a6 UTSW 11 109,364,022 (GRCm39) unclassified probably benign
R6889:Slc16a6 UTSW 11 109,345,866 (GRCm39) missense probably damaging 1.00
R7266:Slc16a6 UTSW 11 109,344,107 (GRCm39) missense probably benign 0.05
R8053:Slc16a6 UTSW 11 109,349,395 (GRCm39) missense probably damaging 1.00
R8079:Slc16a6 UTSW 11 109,364,281 (GRCm39) missense unknown
R8829:Slc16a6 UTSW 11 109,345,932 (GRCm39) missense probably benign 0.03
R8832:Slc16a6 UTSW 11 109,345,932 (GRCm39) missense probably benign 0.03
R8968:Slc16a6 UTSW 11 109,345,776 (GRCm39) missense possibly damaging 0.95
R9302:Slc16a6 UTSW 11 109,350,634 (GRCm39) missense probably benign 0.00
R9620:Slc16a6 UTSW 11 109,354,322 (GRCm39) missense probably benign 0.16
R9694:Slc16a6 UTSW 11 109,354,322 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TACGGAACAGGGCTGGATTC -3'
(R):5'- TACAGCAGGGCCTTCTACTC -3'

Sequencing Primer
(F):5'- TGGTTTTGGCTTAAAGAACAAGC -3'
(R):5'- AGGGCCTTCTACTCCTGCG -3'
Posted On 2018-07-24