Incidental Mutation 'IGL02033:Btnl10'
ID184433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl10
Ensembl Gene ENSMUSG00000020490
Gene Namebutyrophilin-like 10
SynonymsButr1, BUTR-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL02033
Quality Score
Status
Chromosome11
Chromosomal Location58917908-58927158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58919315 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
Ref Sequence ENSEMBL: ENSMUSP00000124234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020792] [ENSMUST00000069941] [ENSMUST00000108818] [ENSMUST00000142499]
Predicted Effect probably damaging
Transcript: ENSMUST00000020792
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020792
Gene: ENSMUSG00000020490
AA Change: E94G

DomainStartEndE-ValueType
IGv 49 130 2.62e-7 SMART
Pfam:C2-set_2 150 233 3.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069941
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063279
Gene: ENSMUSG00000020490
AA Change: E94G

DomainStartEndE-ValueType
IGv 49 130 2.62e-7 SMART
Pfam:C2-set_2 150 233 5.5e-7 PFAM
PRY 300 352 1.11e-11 SMART
SPRY 353 474 6.55e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108818
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104446
Gene: ENSMUSG00000020490
AA Change: E94G

DomainStartEndE-ValueType
IGv 49 130 2.62e-7 SMART
Pfam:C2-set_2 150 233 3.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142499
AA Change: E94G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124234
Gene: ENSMUSG00000020490
AA Change: E94G

DomainStartEndE-ValueType
IGv 49 130 2.62e-7 SMART
Pfam:C2-set_2 151 233 1e-8 PFAM
PRY 300 352 1.11e-11 SMART
SPRY 353 474 6.55e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,259,876 F107L possibly damaging Het
Adam30 G T 3: 98,161,471 V79F probably benign Het
Akap8l T C 17: 32,338,272 R122G probably damaging Het
Apc T A 18: 34,310,719 S570R probably damaging Het
BC027072 T A 17: 71,751,081 I534F probably damaging Het
Col25a1 A T 3: 130,388,948 probably benign Het
Cubn A C 2: 13,339,846 I2208S probably damaging Het
Cyp17a1 A T 19: 46,672,607 Y79* probably null Het
Dach1 T A 14: 97,901,429 H474L possibly damaging Het
Dscaml1 A T 9: 45,683,782 I728F probably damaging Het
Erp29 G T 5: 121,452,242 S33R probably benign Het
Fat3 A C 9: 15,915,352 S4435A possibly damaging Het
Fbxw13 T C 9: 109,181,416 I385V probably damaging Het
Hspg2 T C 4: 137,552,254 M3160T probably benign Het
Lrrc28 C T 7: 67,559,857 probably null Het
Myh15 T C 16: 49,145,344 V1204A probably benign Het
Olfr1457 T C 19: 13,094,857 S91G possibly damaging Het
Pde5a G A 3: 122,803,061 E434K possibly damaging Het
Pgr T A 9: 8,965,110 V753E probably damaging Het
Pik3c3 T A 18: 30,312,650 S563R possibly damaging Het
Ppt2 A G 17: 34,625,754 probably benign Het
Prg4 T A 1: 150,455,868 probably benign Het
Pygo1 G T 9: 72,945,401 S290I possibly damaging Het
Ralgapa1 G T 12: 55,642,477 H1946N possibly damaging Het
Rap1gds1 A G 3: 138,955,471 probably benign Het
Sema4g G A 19: 44,997,415 R256H probably damaging Het
Slc22a12 T G 19: 6,537,814 D370A probably benign Het
Spata16 G A 3: 26,913,334 probably null Het
Trim44 A G 2: 102,400,176 M170T possibly damaging Het
Trpv6 A T 6: 41,627,617 probably benign Het
Vwa8 T G 14: 78,984,209 L535R possibly damaging Het
Wdr78 G T 4: 103,066,293 N123K possibly damaging Het
Other mutations in Btnl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03368:Btnl10 APN 11 58919386 missense possibly damaging 0.61
FR4304:Btnl10 UTSW 11 58923930 small insertion probably benign
FR4449:Btnl10 UTSW 11 58923928 small insertion probably benign
FR4589:Btnl10 UTSW 11 58923929 small insertion probably benign
FR4737:Btnl10 UTSW 11 58923931 small insertion probably benign
FR4976:Btnl10 UTSW 11 58923929 small insertion probably benign
R0420:Btnl10 UTSW 11 58923451 missense probably damaging 1.00
R1875:Btnl10 UTSW 11 58923760 missense probably damaging 0.97
R1908:Btnl10 UTSW 11 58920541 missense possibly damaging 0.74
R3176:Btnl10 UTSW 11 58922390 missense probably benign 0.00
R3177:Btnl10 UTSW 11 58922390 missense probably benign 0.00
R3276:Btnl10 UTSW 11 58922390 missense probably benign 0.00
R3277:Btnl10 UTSW 11 58922390 missense probably benign 0.00
R4600:Btnl10 UTSW 11 58923600 missense probably benign 0.01
R4611:Btnl10 UTSW 11 58920357 missense probably damaging 1.00
R5447:Btnl10 UTSW 11 58922318 missense probably benign 0.13
R5484:Btnl10 UTSW 11 58923825 missense probably damaging 0.98
R5787:Btnl10 UTSW 11 58920343 missense probably damaging 1.00
R5824:Btnl10 UTSW 11 58923440 missense probably benign 0.05
R5859:Btnl10 UTSW 11 58922312 missense probably benign 0.10
R6109:Btnl10 UTSW 11 58920304 missense probably damaging 0.98
R6123:Btnl10 UTSW 11 58920304 missense probably damaging 0.98
R6318:Btnl10 UTSW 11 58926865 utr 3 prime probably benign
X0064:Btnl10 UTSW 11 58923610 missense probably damaging 1.00
Posted On2014-05-07