Incidental Mutation 'R6646:Slc16a6'
ID527981
Institutional Source Beutler Lab
Gene Symbol Slc16a6
Ensembl Gene ENSMUSG00000041920
Gene Namesolute carrier family 16 (monocarboxylic acid transporters), member 6
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6646 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location109450855-109473598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 109453162 bp
ZygosityHeterozygous
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]
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
4932415D10Rik T A 10: 82,296,830 E115D unknown Het
Ada G T 2: 163,735,423 N48K probably benign Het
Aldh1a7 C T 19: 20,699,911 A449T possibly damaging Het
Arhgef28 A G 13: 97,939,494 V1344A probably benign Het
Carmil3 A T 14: 55,507,930 E1371D probably damaging Het
Crebbp C T 16: 4,119,806 A698T possibly damaging Het
Dedd2 T C 7: 25,203,613 D307G probably damaging Het
Dennd6b G T 15: 89,186,184 F427L probably damaging Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Doc2a G A 7: 126,851,619 probably null Het
Dst A G 1: 34,268,807 T6503A possibly damaging Het
Ehmt1 A T 2: 24,806,310 I922K probably damaging Het
Gbp9 A G 5: 105,082,903 I385T probably benign Het
Gipc2 A T 3: 152,094,201 D297E possibly damaging Het
Krt6b T A 15: 101,677,214 Q428L probably damaging Het
Loxl4 T C 19: 42,598,781 D625G probably damaging Het
Lrrn2 C T 1: 132,939,056 P620S probably benign Het
Msh6 T C 17: 87,986,442 V875A possibly damaging Het
Nebl T C 2: 17,376,685 T727A probably damaging Het
Obscn T C 11: 59,082,718 D1929G possibly damaging Het
Pard3b T C 1: 62,161,121 V273A probably benign Het
Pcdhb7 T A 18: 37,343,974 V721E possibly damaging Het
Plaa A T 4: 94,589,978 H82Q probably benign Het
Plcd1 T A 9: 119,075,032 Y278F probably damaging Het
Plxnb1 C A 9: 109,108,827 H1214N probably benign Het
Ptprg C A 14: 11,962,714 P171T probably damaging Het
Rela T G 19: 5,647,104 D446E probably damaging Het
Rpap1 T C 2: 119,780,131 I156V probably benign Het
Rpl15 T C 14: 18,270,040 Y59C probably damaging Het
Scx C A 15: 76,457,921 T107N probably damaging Het
Skint5 T A 4: 113,940,777 K203I possibly damaging Het
Sorbs1 C T 19: 40,325,549 G940R probably damaging Het
Synm A T 7: 67,735,127 I487K probably damaging Het
Tcerg1l A T 7: 138,395,183 probably null Het
Vmn2r99 T G 17: 19,380,031 L439R probably damaging Het
Wdr75 T A 1: 45,799,087 L52Q probably damaging Het
Zswim2 T A 2: 83,915,784 R437* probably null Het
Other mutations in Slc16a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03289:Slc16a6 APN 11 109463499 missense probably damaging 1.00
PIT4280001:Slc16a6 UTSW 11 109458593 missense possibly damaging 0.95
R1420:Slc16a6 UTSW 11 109454946 missense probably damaging 0.99
R3902:Slc16a6 UTSW 11 109458561 missense probably damaging 1.00
R4706:Slc16a6 UTSW 11 109463367 missense probably benign 0.45
R4707:Slc16a6 UTSW 11 109463367 missense probably benign 0.45
R5940:Slc16a6 UTSW 11 109473196 unclassified probably benign
R6889:Slc16a6 UTSW 11 109455040 missense probably damaging 1.00
R7266:Slc16a6 UTSW 11 109453281 missense probably benign 0.05
R8053:Slc16a6 UTSW 11 109458569 missense probably damaging 1.00
R8079:Slc16a6 UTSW 11 109473455 missense unknown
Predicted Primers PCR Primer
(F):5'- TACGGAACAGGGCTGGATTC -3'
(R):5'- TACAGCAGGGCCTTCTACTC -3'

Sequencing Primer
(F):5'- TGGTTTTGGCTTAAAGAACAAGC -3'
(R):5'- AGGGCCTTCTACTCCTGCG -3'
Posted On2018-07-24