Incidental Mutation 'R4462:Btnl6'
ID 330201
Institutional Source Beutler Lab
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 # R4462 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34726778-34736326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34727031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 500 (S500P)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect probably damaging
Transcript: ENSMUST00000075483
AA Change: S500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: S500P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A T 6: 55,457,084 (GRCm39) I272F possibly damaging Het
Adgrl3 C T 5: 81,836,357 (GRCm39) A705V probably damaging Het
Arhgef12 A T 9: 42,893,278 (GRCm39) V975E probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Ccdc39 C T 3: 33,868,817 (GRCm39) R798Q probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cdon T C 9: 35,368,876 (GRCm39) V34A probably damaging Het
Defa17 A G 8: 22,146,553 (GRCm39) R60G probably benign Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Fuca2 T C 10: 13,378,979 (GRCm39) V41A probably damaging Het
Ggt6 C A 11: 72,328,654 (GRCm39) H385N possibly damaging Het
Hgsnat G A 8: 26,444,664 (GRCm39) T428I probably damaging Het
Nefh A G 11: 4,891,015 (GRCm39) S535P probably damaging Het
Or2y6 T A 11: 52,104,801 (GRCm39) N5I probably damaging Het
Or8b1c T A 9: 38,384,360 (GRCm39) F106I probably benign Het
Pkhd1l1 T C 15: 44,445,200 (GRCm39) F3691L probably damaging Het
Polr2a T C 11: 69,637,229 (GRCm39) D282G probably damaging Het
Ranbp17 T C 11: 33,167,421 (GRCm39) probably null Het
Slc13a2 T C 11: 78,295,213 (GRCm39) T187A probably benign Het
Slco3a1 A C 7: 74,204,311 (GRCm39) S10A probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Trim38 A G 13: 23,975,435 (GRCm39) Y458C probably null Het
Ubr4 A G 4: 139,145,813 (GRCm39) M1537V possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTCTTCCCCTGGGATAGAGTC -3'
(R):5'- GGCCTATATTGACTCTGGGAGG -3'

Sequencing Primer
(F):5'- GTCCACAACACAAGAGCCTGG -3'
(R):5'- GGACTTCATTATCTGTCAGGCAAGC -3'
Posted On 2015-07-21