Incidental Mutation 'R4408:Slc16a11'
ID 327765
Institutional Source Beutler Lab
Gene Symbol Slc16a11
Ensembl Gene ENSMUSG00000040938
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 11
Synonyms MNCb-2717
MMRRC Submission 041690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4408 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70104717-70107239 bp(+) (GRCm39)
Type of Mutation splice site (747 bp from exon)
DNA Base Change (assembly) A to G at 70106560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060010] [ENSMUST00000094055] [ENSMUST00000123716] [ENSMUST00000126296] [ENSMUST00000126388] [ENSMUST00000136328] [ENSMUST00000171032] [ENSMUST00000190533] [ENSMUST00000153993] [ENSMUST00000159867] [ENSMUST00000141290]
AlphaFold Q5NC32
Predicted Effect probably benign
Transcript: ENSMUST00000060010
SMART Domains Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367

DomainStartEndE-ValueType
Pfam:MFS_1 14 277 1.7e-22 PFAM
Pfam:MFS_1 219 423 6.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094055
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: D266G

DomainStartEndE-ValueType
Pfam:MFS_1 17 340 5.5e-24 PFAM
transmembrane domain 343 365 N/A INTRINSIC
transmembrane domain 380 402 N/A INTRINSIC
low complexity region 407 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122852
Predicted Effect probably benign
Transcript: ENSMUST00000123716
SMART Domains Protein: ENSMUSP00000114871
Gene: ENSMUSG00000040938

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000126296
SMART Domains Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938

DomainStartEndE-ValueType
Pfam:MFS_1 16 196 2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126388
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: D266G

DomainStartEndE-ValueType
Pfam:MFS_1 17 340 5.5e-24 PFAM
transmembrane domain 343 365 N/A INTRINSIC
transmembrane domain 380 402 N/A INTRINSIC
low complexity region 407 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131468
Predicted Effect probably damaging
Transcript: ENSMUST00000136328
AA Change: D218G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
AA Change: D218G

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:MFS_1 66 297 8.3e-10 PFAM
low complexity region 306 324 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171032
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: D266G

DomainStartEndE-ValueType
Pfam:MFS_1 17 316 1.8e-24 PFAM
transmembrane domain 343 365 N/A INTRINSIC
transmembrane domain 380 402 N/A INTRINSIC
low complexity region 407 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144494
Predicted Effect probably benign
Transcript: ENSMUST00000190533
Predicted Effect probably null
Transcript: ENSMUST00000153993
SMART Domains Protein: ENSMUSP00000122586
Gene: ENSMUSG00000040938

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 56 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159867
SMART Domains Protein: ENSMUSP00000124687
Gene: ENSMUSG00000044367

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141290
SMART Domains Protein: ENSMUSP00000116316
Gene: ENSMUSG00000044367

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
Meta Mutation Damage Score 0.5982 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1h A G 17: 25,599,601 (GRCm39) V1588A probably damaging Het
Card6 T A 15: 5,130,536 (GRCm39) M287L probably damaging Het
Fam227b T A 2: 125,958,045 (GRCm39) Y240F possibly damaging Het
Fbln1 T A 15: 85,115,757 (GRCm39) probably null Het
Fndc5 A G 4: 129,036,322 (GRCm39) probably null Het
Gm10799 C A 2: 103,898,409 (GRCm39) A99S possibly damaging Het
Gm27013 A T 6: 130,654,728 (GRCm39) S245T possibly damaging Het
Gm5592 A G 7: 40,935,872 (GRCm39) T125A probably benign Het
Gml2 T C 15: 74,696,188 (GRCm39) probably benign Het
Gpbp1 A T 13: 111,585,498 (GRCm39) N149K possibly damaging Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Hnrnpu T C 1: 178,158,368 (GRCm39) probably benign Het
Irf5 A G 6: 29,534,000 (GRCm39) probably null Het
Lrp2 T A 2: 69,297,513 (GRCm39) K3149N probably benign Het
Lrrn3 A G 12: 41,504,041 (GRCm39) V92A probably benign Het
Map3k12 T C 15: 102,413,837 (GRCm39) T45A probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Or4k77 T A 2: 111,199,625 (GRCm39) I216K possibly damaging Het
Or9s18 A G 13: 65,300,514 (GRCm39) T159A probably benign Het
Osr2 T C 15: 35,300,617 (GRCm39) Y58H possibly damaging Het
Pop5 C T 5: 115,378,836 (GRCm39) probably benign Het
Ror2 A G 13: 53,272,997 (GRCm39) C211R probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sgsm2 C A 11: 74,742,592 (GRCm39) R957L probably damaging Het
Spag17 T A 3: 100,010,694 (GRCm39) Y2063N probably benign Het
Usp25 A C 16: 76,912,341 (GRCm39) K1020T probably damaging Het
Vmn1r23 T C 6: 57,903,353 (GRCm39) I142V probably benign Het
Vmn1r235 A G 17: 21,481,854 (GRCm39) K60E probably damaging Het
Vmn2r33 A C 7: 7,554,229 (GRCm39) F775V probably damaging Het
Vps13b C T 15: 35,709,440 (GRCm39) P1796S probably damaging Het
Vwa3a G A 7: 120,378,149 (GRCm39) V480I probably benign Het
Other mutations in Slc16a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Slc16a11 APN 11 70,106,242 (GRCm39) missense probably damaging 0.99
shanxi UTSW 11 70,106,477 (GRCm39) nonsense probably null
taihang UTSW 11 70,106,560 (GRCm39) splice site probably null
R0619:Slc16a11 UTSW 11 70,105,858 (GRCm39) missense probably damaging 1.00
R2044:Slc16a11 UTSW 11 70,106,477 (GRCm39) nonsense probably null
R2110:Slc16a11 UTSW 11 70,106,146 (GRCm39) missense probably damaging 1.00
R4633:Slc16a11 UTSW 11 70,107,205 (GRCm39) splice site probably null
R5255:Slc16a11 UTSW 11 70,106,258 (GRCm39) missense probably damaging 1.00
R5544:Slc16a11 UTSW 11 70,105,826 (GRCm39) splice site probably null
R5901:Slc16a11 UTSW 11 70,107,172 (GRCm39) missense probably benign 0.02
R6116:Slc16a11 UTSW 11 70,106,262 (GRCm39) missense probably benign 0.08
R6993:Slc16a11 UTSW 11 70,106,842 (GRCm39) missense possibly damaging 0.60
R7658:Slc16a11 UTSW 11 70,106,143 (GRCm39) missense possibly damaging 0.96
R9043:Slc16a11 UTSW 11 70,106,520 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCGCCTTGCTAAGACCTTTAG -3'
(R):5'- AACCAGTGGGGCATAACTC -3'

Sequencing Primer
(F):5'- AAGACCTTTAGCTCTCTCTGGTGAC -3'
(R):5'- AGTGGGGCATAACTCCCAGC -3'
Posted On 2015-07-07