Incidental Mutation 'IGL03366:Btnl6'
ID420086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Namebutyrophilin-like 6
SynonymsGm6519, NG13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03366
Quality Score
Status
Chromosome17
Chromosomal Location34507804-34517352 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34508179 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 459 (D459G)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
Predicted Effect probably damaging
Transcript: ENSMUST00000075483
AA Change: D459G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: D459G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 145 2.06e-5 SMART
SCOP:d1c5ch2 151 222 1e-2 SMART
Blast:IG_like 152 228 2e-23 BLAST
transmembrane domain 252 271 N/A INTRINSIC
low complexity region 312 326 N/A INTRINSIC
SPRY 384 509 1.23e-19 SMART
low complexity region 510 539 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173164
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,629,273 S793T probably benign Het
Cacna1g C A 11: 94,457,151 D704Y probably damaging Het
Cry2 A G 2: 92,413,715 I371T probably damaging Het
Dock3 A T 9: 107,005,433 F384I probably benign Het
Dpp4 T C 2: 62,356,957 probably null Het
Hecw1 G T 13: 14,377,797 D72E probably damaging Het
Htt T A 5: 34,907,580 W3046R probably damaging Het
Hydin A T 8: 110,267,363 N10Y unknown Het
Ighv8-8 T A 12: 115,294,140 T94S probably benign Het
Igkv4-58 A G 6: 69,500,554 S20P probably damaging Het
Il4i1 T C 7: 44,837,495 probably benign Het
Kif13a A T 13: 46,764,623 S403T probably benign Het
Klhl40 T C 9: 121,783,380 L616P probably damaging Het
Krt7 T C 15: 101,427,610 L440P possibly damaging Het
Lpin1 A G 12: 16,544,677 L755P probably damaging Het
Magee2 C A X: 104,855,528 E506* probably null Het
Mast3 G A 8: 70,781,563 R143* probably null Het
Med12 T A X: 101,278,089 H459Q probably benign Het
Mmp3 T C 9: 7,450,149 S294P probably benign Het
Muc6 T C 7: 141,648,082 Y714C probably damaging Het
Myh2 T C 11: 67,183,523 L662S probably damaging Het
Notch4 G T 17: 34,572,568 C567F probably damaging Het
Nprl3 A G 11: 32,250,256 I20T probably damaging Het
Olfr1123 A T 2: 87,418,243 D65V possibly damaging Het
Pcdhb19 A G 18: 37,498,612 T487A possibly damaging Het
Phlpp2 A G 8: 109,940,835 E1332G probably benign Het
Pick1 T C 15: 79,241,281 S113P probably damaging Het
Ptpru T C 4: 131,779,867 E1023G probably damaging Het
Rspry1 A C 8: 94,650,334 I382L probably benign Het
Sf3b3 A C 8: 110,839,954 V248G probably damaging Het
Smg5 T A 3: 88,346,452 Y126* probably null Het
Spert A G 14: 75,583,389 S299P probably benign Het
Spin1 T C 13: 51,127,937 V22A probably benign Het
Stab1 C T 14: 31,150,263 R1189Q possibly damaging Het
Sytl5 A G X: 9,963,700 D538G probably damaging Het
Taar7e T A 10: 24,037,915 M101K probably damaging Het
Taf4 A G 2: 179,935,054 V578A probably damaging Het
Tmem266 G T 9: 55,437,233 C383F probably benign Het
Trim34a T C 7: 104,260,933 probably null Het
Vmn2r104 T C 17: 20,029,604 T802A probably damaging Het
Vmn2r32 A C 7: 7,464,030 I833S probably damaging Het
Vmn2r85 T C 10: 130,426,459 D137G probably benign Het
Vps13c C T 9: 67,946,026 S2467L probably benign Het
Other mutations in Btnl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Btnl6 APN 17 34514043 missense probably benign 0.00
IGL02501:Btnl6 APN 17 34515674 missense possibly damaging 0.82
IGL02539:Btnl6 APN 17 34508314 missense probably benign 0.00
IGL02629:Btnl6 APN 17 34514468 missense probably damaging 1.00
IGL02724:Btnl6 APN 17 34508175 nonsense probably null
R0013:Btnl6 UTSW 17 34515531 nonsense probably null
R0025:Btnl6 UTSW 17 34514299 missense probably benign 0.02
R0144:Btnl6 UTSW 17 34514020 missense probably benign 0.29
R0255:Btnl6 UTSW 17 34508503 missense probably benign 0.01
R1474:Btnl6 UTSW 17 34513646 missense probably damaging 1.00
R1757:Btnl6 UTSW 17 34514088 missense probably benign 0.09
R1838:Btnl6 UTSW 17 34515542 missense probably damaging 0.99
R2149:Btnl6 UTSW 17 34514347 missense possibly damaging 0.47
R2994:Btnl6 UTSW 17 34515524 missense possibly damaging 0.82
R3441:Btnl6 UTSW 17 34508318 missense probably benign 0.06
R3809:Btnl6 UTSW 17 34508228 missense probably benign 0.00
R3936:Btnl6 UTSW 17 34517342 missense probably benign
R4462:Btnl6 UTSW 17 34508057 missense probably damaging 1.00
R4604:Btnl6 UTSW 17 34508461 missense possibly damaging 0.91
R4618:Btnl6 UTSW 17 34514146 missense probably damaging 0.98
R4832:Btnl6 UTSW 17 34513992 missense possibly damaging 0.80
R5369:Btnl6 UTSW 17 34507985 nonsense probably null
R5422:Btnl6 UTSW 17 34514107 missense possibly damaging 0.93
R6046:Btnl6 UTSW 17 34508397 missense probably damaging 1.00
R6170:Btnl6 UTSW 17 34515506 missense probably damaging 0.99
R6385:Btnl6 UTSW 17 34508369 missense probably benign 0.01
Posted On2016-08-02