Incidental Mutation 'IGL02127:Btnl6'
ID 280896
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 # IGL02127
Quality Score
Status
Chromosome 17
Chromosomal Location 34726778-34736326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34733017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 282 (Q282R)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect probably benign
Transcript: ENSMUST00000075483
AA Change: Q282R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: Q282R

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,305 (GRCm39) M661K probably benign Het
Arpin G A 7: 79,577,941 (GRCm39) R163W probably benign Het
Atm C A 9: 53,399,283 (GRCm39) D1573Y probably damaging Het
Avil A G 10: 126,847,695 (GRCm39) N540S probably benign Het
Cacna2d3 T C 14: 28,785,832 (GRCm39) probably benign Het
Cd300ld4 T C 11: 114,913,545 (GRCm39) N170S probably benign Het
Cgnl1 T A 9: 71,633,135 (GRCm39) N72I probably damaging Het
Cntnap3 T C 13: 64,946,878 (GRCm39) probably benign Het
Col27a1 A T 4: 63,143,379 (GRCm39) T356S possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2c69 G T 19: 39,839,501 (GRCm39) T374N probably damaging Het
Cyp2d26 T C 15: 82,675,307 (GRCm39) E349G probably benign Het
Dnah1 T C 14: 31,026,885 (GRCm39) E713G probably benign Het
Dnah7b A T 1: 46,179,035 (GRCm39) T903S probably benign Het
Enthd1 T C 15: 80,336,943 (GRCm39) D497G probably damaging Het
Grk4 C T 5: 34,867,530 (GRCm39) T165I probably benign Het
Hmcn1 G A 1: 150,598,358 (GRCm39) S1648L probably benign Het
Ints11 A G 4: 155,971,320 (GRCm39) Y278C probably damaging Het
Kcnu1 T C 8: 26,382,090 (GRCm39) L480P probably damaging Het
Kif5c G A 2: 49,591,122 (GRCm39) probably null Het
Kifbp C T 10: 62,414,128 (GRCm39) R10H probably benign Het
Klhl35 T C 7: 99,120,888 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,933 (GRCm39) D807E possibly damaging Het
Lrrc37a G A 11: 103,395,365 (GRCm39) T20I probably benign Het
Mab21l1 C T 3: 55,691,016 (GRCm39) A201V probably benign Het
Mab21l2 T C 3: 86,454,124 (GRCm39) D292G possibly damaging Het
Map3k21 T C 8: 126,668,886 (GRCm39) L824P probably benign Het
Myo5a T C 9: 75,120,263 (GRCm39) V1687A probably benign Het
Myo5c G T 9: 75,208,184 (GRCm39) W1639C probably damaging Het
Nfya G T 17: 48,700,283 (GRCm39) probably benign Het
Or4a76 A G 2: 89,461,098 (GRCm39) I48T probably damaging Het
Papolg A G 11: 23,820,870 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,686 (GRCm39) R626C probably damaging Het
Pclo T C 5: 14,815,159 (GRCm39) probably benign Het
Pogz T C 3: 94,782,014 (GRCm39) probably benign Het
Polg G A 7: 79,107,915 (GRCm39) probably benign Het
Scn9a A G 2: 66,377,479 (GRCm39) V401A probably damaging Het
Scn9a A T 2: 66,325,170 (GRCm39) I1317K probably damaging Het
St7 T A 6: 17,844,968 (GRCm39) probably benign Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Trmt1 T C 8: 85,424,100 (GRCm39) V400A probably damaging Het
Trrap A G 5: 144,753,243 (GRCm39) N1856S probably benign Het
Ube3a G A 7: 58,925,789 (GRCm39) G210D probably benign Het
Ubqln5 A G 7: 103,778,689 (GRCm39) V45A probably damaging Het
Wdpcp T A 11: 21,661,958 (GRCm39) M410K possibly damaging Het
Xpa G A 4: 46,185,606 (GRCm39) T124M probably damaging Het
Zpbp2 A G 11: 98,446,367 (GRCm39) E172G probably damaging Het
Other mutations in Btnl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Btnl6 APN 17 34,734,648 (GRCm39) missense possibly damaging 0.82
IGL02539:Btnl6 APN 17 34,727,288 (GRCm39) missense probably benign 0.00
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