Incidental Mutation 'IGL02501:Btnl6'
ID 296040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Name butyrophilin-like 6
Synonyms Gm6519, NG13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02501
Quality Score
Status
Chromosome 17
Chromosomal Location 34507804-34517352 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34515674 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 38 (D38V)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect possibly damaging
Transcript: ENSMUST00000075483
AA Change: D38V

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: D38V

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,083,340 I307F probably damaging Het
Adam15 G A 3: 89,340,462 A789V possibly damaging Het
Bspry A G 4: 62,496,435 T422A probably benign Het
Cd59b G A 2: 104,078,928 C18Y probably damaging Het
Clstn1 T G 4: 149,631,842 I255R probably damaging Het
Dpp10 A G 1: 123,686,270 L99P possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Emc1 A T 4: 139,370,984 T759S probably benign Het
Fam126b C A 1: 58,540,191 R229L probably damaging Het
Fndc1 C T 17: 7,765,398 G1232E unknown Het
Gjb3 C T 4: 127,326,364 G125D probably damaging Het
Helb A G 10: 120,102,788 S594P possibly damaging Het
Ildr1 T C 16: 36,722,350 S371P probably damaging Het
Kif1b T A 4: 149,214,976 R946W probably damaging Het
Lrp12 T C 15: 39,877,904 T472A probably damaging Het
Lyst A G 13: 13,711,645 D3031G probably benign Het
Med12l A T 3: 59,261,976 T1596S possibly damaging Het
Myom1 A C 17: 71,072,081 probably null Het
Nhlrc2 T A 19: 56,570,654 Y190* probably null Het
Nol4 A T 18: 22,823,341 N115K probably damaging Het
Nrg1 T A 8: 31,818,263 probably null Het
Olfr844 T A 9: 19,318,703 H56Q probably damaging Het
Oxld1 A C 11: 120,456,888 L161R probably damaging Het
Phex A G X: 157,186,275 S568P probably damaging Het
Pkd1 T G 17: 24,569,699 S810R probably benign Het
Plin2 G T 4: 86,664,486 C84* probably null Het
Ppfia3 A T 7: 45,354,938 probably benign Het
Ptpn14 A G 1: 189,850,390 N478S probably benign Het
Pygl A G 12: 70,191,134 M801T probably benign Het
Recql5 A G 11: 115,895,091 Y619H probably benign Het
Scn3a C A 2: 65,526,555 D182Y possibly damaging Het
Serpinb6e T C 13: 33,832,802 E316G possibly damaging Het
Shroom4 A G X: 6,583,944 E386G possibly damaging Het
Slc4a2 A G 5: 24,429,434 S24G probably benign Het
Slc4a4 A G 5: 89,129,649 I282V probably benign Het
Slc8b1 C T 5: 120,520,853 R148C probably damaging Het
Stag2 A G X: 42,271,325 probably benign Het
Styx T A 14: 45,372,465 H195Q probably benign Het
Sufu A G 19: 46,450,910 I190V probably benign Het
Svep1 A G 4: 58,145,341 probably benign Het
Tbc1d31 T C 15: 57,937,948 I293T probably benign Het
Timp4 T A 6: 115,246,483 I160F probably damaging Het
Tmem87a A T 2: 120,404,053 V3E probably damaging Het
Utp4 T A 8: 106,906,241 H285Q probably benign Het
Vrk1 T G 12: 106,062,653 S305A probably benign Het
Zfp329 G T 7: 12,811,179 H139Q possibly damaging Het
Other mutations in Btnl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Btnl6 APN 17 34514043 missense probably benign 0.00
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
IGL03366:Btnl6 APN 17 34508179 missense probably damaging 1.00
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
R8213:Btnl6 UTSW 17 34508883 splice site probably null
R8676:Btnl6 UTSW 17 34508069 missense probably benign 0.00
R8895:Btnl6 UTSW 17 34515417 missense probably benign 0.01
Posted On 2015-04-16