Incidental Mutation 'R6889:Slc16a6'
ID 537128
Institutional Source Beutler Lab
Gene Symbol Slc16a6
Ensembl Gene ENSMUSG00000041920
Gene Name solute 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 # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109450855-109473598 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 109455040 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 382 (F382V)
Ref Sequence ENSEMBL: ENSMUSP00000067423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000032206] [ENSMUST00000070152] [ENSMUST00000070872] [ENSMUST00000168740]
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: ENSMUST00000032206
SMART Domains Protein: ENSMUSP00000032206
Gene: ENSMUSG00000041920

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070152
AA Change: F466V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065628
Gene: ENSMUSG00000041920
AA Change: F466V

DomainStartEndE-ValueType
Pfam:MFS_1 115 521 7.5e-36 PFAM
transmembrane domain 533 555 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070872
AA Change: F382V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067423
Gene: ENSMUSG00000041920
AA Change: F382V

DomainStartEndE-ValueType
Pfam:MFS_1 31 437 2.8e-36 PFAM
transmembrane domain 449 471 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168740
SMART Domains Protein: ENSMUSP00000125950
Gene: ENSMUSG00000041920

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 108 127 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,943,053 D103E probably benign Het
Abcc3 A T 11: 94,375,555 S70T possibly damaging Het
Atp6v0a1 A G 11: 101,029,183 Y214C possibly damaging Het
Azi2 A G 9: 118,049,895 probably null Het
BC067074 C A 13: 113,318,378 S319R probably damaging Het
Cacnb2 T A 2: 14,986,015 V636E possibly damaging Het
Cd8a A C 6: 71,374,562 T169P probably damaging Het
Cfap44 G A 16: 44,404,132 V68I probably benign Het
Eea1 G T 10: 96,037,478 C1134F probably benign Het
Ehmt2 T G 17: 34,912,772 F1192V probably damaging Het
Emc1 T C 4: 139,365,350 F531L probably damaging Het
Eme1 G A 11: 94,650,477 T173I probably benign Het
Gli2 A T 1: 118,844,416 C520S probably damaging Het
Gm43302 T C 5: 105,280,138 K186E probably benign Het
Gpr108 A T 17: 57,236,990 N405K probably damaging Het
Hmgcl C A 4: 135,955,642 T135N probably benign Het
Hydin G A 8: 110,532,856 D2487N possibly damaging Het
Igfl3 G T 7: 18,179,800 R25L probably benign Het
Igsf10 A C 3: 59,331,933 S276A probably benign Het
Kctd1 A G 18: 14,973,988 S211P probably damaging Het
Kctd7 A T 5: 130,152,501 Q255L probably benign Het
Lrig1 A G 6: 94,625,063 Y270H probably benign Het
Muc5ac C T 7: 141,809,744 probably benign Het
Myh15 A G 16: 49,153,111 N1248S possibly damaging Het
Nod1 A G 6: 54,944,109 F408S probably benign Het
Nrp1 T C 8: 128,493,057 F652S probably damaging Het
Olfr1338 G A 4: 118,754,307 T79I probably damaging Het
Olfr487 A T 7: 108,211,918 F204I probably benign Het
Olfr574 A T 7: 102,948,768 H91L possibly damaging Het
Olfr821 T C 10: 130,034,532 M302T probably benign Het
Opa1 G T 16: 29,620,868 R792L probably benign Het
Pcdha6 G T 18: 36,968,343 L196F probably damaging Het
Pdia2 A T 17: 26,196,970 Y347* probably null Het
Pdpr G T 8: 111,124,613 probably null Het
Pigt T A 2: 164,507,331 L518Q probably damaging Het
Ppfibp2 A C 7: 107,737,981 D591A possibly damaging Het
Prrg2 G A 7: 45,059,989 T97M possibly damaging Het
Qars A G 9: 108,513,183 T428A probably damaging Het
Rai1 T C 11: 60,185,715 F202L probably damaging Het
Rars A T 11: 35,808,486 M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,579,925 probably benign Het
Slc30a7 T C 3: 115,954,153 T330A probably damaging Het
Smc1b A T 15: 85,067,759 L1157Q probably damaging Het
Snx4 G T 16: 33,251,470 A4S possibly damaging Het
Sv2b A C 7: 75,125,767 probably null Het
Syt9 A T 7: 107,425,286 I129L probably damaging Het
Ttbk2 T C 2: 120,773,353 E198G probably damaging Het
Ubr3 A T 2: 69,944,300 D488V possibly damaging Het
Ush2a T A 1: 188,797,871 C3286S probably damaging Het
Vill A G 9: 119,065,882 D56G possibly damaging Het
Vmn1r41 A T 6: 89,747,370 I298F probably damaging Het
Vmn2r2 A T 3: 64,117,267 V631D probably damaging Het
Vmn2r32 A G 7: 7,472,574 S437P possibly damaging Het
Vmn2r53 A G 7: 12,601,142 V197A probably benign Het
Wasf1 A T 10: 40,920,369 I32F probably damaging Het
Wasf2 G T 4: 133,194,730 A387S unknown Het
Wdr92 G A 11: 17,222,309 V133M probably damaging Het
Zbtb14 G A 17: 69,387,679 C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 A37S probably damaging Het
Zfp532 A G 18: 65,686,990 E882G possibly damaging 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
R6646:Slc16a6 UTSW 11 109453162 missense probably benign 0.03
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
R8829:Slc16a6 UTSW 11 109455106 missense probably benign 0.03
R8832:Slc16a6 UTSW 11 109455106 missense probably benign 0.03
R8968:Slc16a6 UTSW 11 109454950 missense possibly damaging 0.95
R9302:Slc16a6 UTSW 11 109459808 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTTTAGTCACCTGCCAGGG -3'
(R):5'- TGGACTTCTCCGTCTTGAAAGAG -3'

Sequencing Primer
(F):5'- ACCTGCCAGGGGTGGTC -3'
(R):5'- GGTATCAGTCTAGGCATTGACCC -3'
Posted On 2018-10-18