Incidental Mutation 'IGL02539:Btnl6'
ID 297622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Name butyrophilin-like 6
Synonyms Gm6519, NG13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02539
Quality Score
Status
Chromosome 17
Chromosomal Location 34726778-34736326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34727288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 414 (N414S)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect probably benign
Transcript: ENSMUST00000075483
AA Change: N414S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: N414S

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,229 (GRCm39) Y479* probably null Het
Ccdc180 A G 4: 45,921,005 (GRCm39) N984D probably damaging Het
Cfc1 A T 1: 34,576,203 (GRCm39) probably benign Het
Chrm1 G A 19: 8,655,675 (GRCm39) V127M probably damaging Het
Dicer1 A G 12: 104,663,294 (GRCm39) L1429P probably damaging Het
Erbb3 A G 10: 128,420,174 (GRCm39) probably null Het
Evi5 T C 5: 107,963,531 (GRCm39) E348G probably benign Het
Fat2 G A 11: 55,172,619 (GRCm39) T2698I probably damaging Het
Gas2 A G 7: 51,547,038 (GRCm39) D63G possibly damaging Het
Gm28042 A G 2: 119,865,702 (GRCm39) D313G probably damaging Het
Hivep2 T A 10: 14,007,622 (GRCm39) S1407T probably damaging Het
Ibsp T A 5: 104,450,149 (GRCm39) M19K probably damaging Het
Itih3 C T 14: 30,634,621 (GRCm39) D129N probably benign Het
Krtap4-8 A T 11: 99,671,196 (GRCm39) probably benign Het
Mertk A G 2: 128,643,210 (GRCm39) T870A probably damaging Het
Mtmr11 C A 3: 96,072,308 (GRCm39) probably benign Het
Nbas C A 12: 13,322,704 (GRCm39) probably benign Het
Nlrp4b A G 7: 10,448,355 (GRCm39) D186G probably damaging Het
Olfm3 A G 3: 114,895,579 (GRCm39) I154V possibly damaging Het
Or10a5 T A 7: 106,635,641 (GRCm39) I93N probably damaging Het
Pdk2 T C 11: 94,923,321 (GRCm39) K101R probably benign Het
Pds5a C T 5: 65,823,462 (GRCm39) D110N probably damaging Het
Pex5 A T 6: 124,380,183 (GRCm39) D288E probably benign Het
Pitrm1 A G 13: 6,618,792 (GRCm39) D655G probably benign Het
Plcz1 T C 6: 139,938,690 (GRCm39) N554S probably benign Het
Plin4 T C 17: 56,413,680 (GRCm39) Q315R probably damaging Het
Plpp5 A G 8: 26,214,215 (GRCm39) H244R probably benign Het
Ppp1r3a C T 6: 14,718,458 (GRCm39) V819I probably benign Het
Rap1b T A 10: 117,658,709 (GRCm39) R41S possibly damaging Het
Rc3h2 T A 2: 37,279,727 (GRCm39) S501C probably benign Het
Sel1l2 G T 2: 140,072,778 (GRCm39) A619D probably damaging Het
Ska3 T C 14: 58,057,968 (GRCm39) D128G possibly damaging Het
Specc1l A T 10: 75,103,342 (GRCm39) I889L probably benign Het
Ssxb5 T A X: 8,675,087 (GRCm39) N130K probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tet1 T C 10: 62,648,798 (GRCm39) Q267R possibly damaging Het
Tlr8 T A X: 166,027,152 (GRCm39) H566L possibly damaging Het
Tmem132d T A 5: 127,861,043 (GRCm39) Q1026L probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trp53bp2 C A 1: 182,276,256 (GRCm39) P746T probably damaging Het
Uso1 A T 5: 92,335,632 (GRCm39) I547F probably damaging Het
Zfp687 A C 3: 94,918,373 (GRCm39) N466K probably damaging Het
Other mutations in Btnl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Btnl6 APN 17 34,733,017 (GRCm39) missense probably benign 0.00
IGL02501:Btnl6 APN 17 34,734,648 (GRCm39) missense possibly damaging 0.82
IGL02629:Btnl6 APN 17 34,733,442 (GRCm39) missense probably damaging 1.00
IGL02724:Btnl6 APN 17 34,727,149 (GRCm39) nonsense probably null
IGL03366:Btnl6 APN 17 34,727,153 (GRCm39) missense probably damaging 1.00
R0013:Btnl6 UTSW 17 34,734,505 (GRCm39) nonsense probably null
R0025:Btnl6 UTSW 17 34,733,273 (GRCm39) missense probably benign 0.02
R0144:Btnl6 UTSW 17 34,732,994 (GRCm39) missense probably benign 0.29
R0255:Btnl6 UTSW 17 34,727,477 (GRCm39) missense probably benign 0.01
R1474:Btnl6 UTSW 17 34,732,620 (GRCm39) missense probably damaging 1.00
R1757:Btnl6 UTSW 17 34,733,062 (GRCm39) missense probably benign 0.09
R1838:Btnl6 UTSW 17 34,734,516 (GRCm39) missense probably damaging 0.99
R2149:Btnl6 UTSW 17 34,733,321 (GRCm39) missense possibly damaging 0.47
R2994:Btnl6 UTSW 17 34,734,498 (GRCm39) missense possibly damaging 0.82
R3441:Btnl6 UTSW 17 34,727,292 (GRCm39) missense probably benign 0.06
R3809:Btnl6 UTSW 17 34,727,202 (GRCm39) missense probably benign 0.00
R3936:Btnl6 UTSW 17 34,736,316 (GRCm39) missense probably benign
R4462:Btnl6 UTSW 17 34,727,031 (GRCm39) missense probably damaging 1.00
R4604:Btnl6 UTSW 17 34,727,435 (GRCm39) missense possibly damaging 0.91
R4618:Btnl6 UTSW 17 34,733,120 (GRCm39) missense probably damaging 0.98
R4832:Btnl6 UTSW 17 34,732,966 (GRCm39) missense possibly damaging 0.80
R5369:Btnl6 UTSW 17 34,726,959 (GRCm39) nonsense probably null
R5422:Btnl6 UTSW 17 34,733,081 (GRCm39) missense possibly damaging 0.93
R6046:Btnl6 UTSW 17 34,727,371 (GRCm39) missense probably damaging 1.00
R6170:Btnl6 UTSW 17 34,734,480 (GRCm39) missense probably damaging 0.99
R6385:Btnl6 UTSW 17 34,727,343 (GRCm39) missense probably benign 0.01
R8213:Btnl6 UTSW 17 34,727,857 (GRCm39) splice site probably null
R8676:Btnl6 UTSW 17 34,727,043 (GRCm39) missense probably benign 0.00
R8895:Btnl6 UTSW 17 34,734,391 (GRCm39) missense probably benign 0.01
R9654:Btnl6 UTSW 17 34,733,140 (GRCm39) missense probably damaging 1.00
R9665:Btnl6 UTSW 17 34,732,635 (GRCm39) missense probably benign
Posted On 2015-04-16