Incidental Mutation 'R4618:Btnl6'
ID 345138
Institutional Source Beutler Lab
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Name butyrophilin-like 6
Synonyms Gm6519, NG13
MMRRC Submission 041884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4618 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34726778-34736326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34733120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 248 (P248S)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect probably damaging
Transcript: ENSMUST00000075483
AA Change: P248S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: P248S

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (89/91)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,473,095 (GRCm39) K83N unknown Het
Adamtsl3 T A 7: 82,255,728 (GRCm39) M1580K probably benign Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Akap3 G T 6: 126,843,406 (GRCm39) C675F probably benign Het
Asap1 A T 15: 64,024,744 (GRCm39) H318Q probably damaging Het
Atf7ip G T 6: 136,542,104 (GRCm39) A18S probably damaging Het
Bcl2a1a A C 9: 88,839,357 (GRCm39) N85T probably damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Ccdc14 T A 16: 34,526,865 (GRCm39) C257S probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cstdc3 T A 16: 36,132,952 (GRCm39) D76E possibly damaging Het
Endou C T 15: 97,611,763 (GRCm39) V292M possibly damaging Het
Fbxo36 T C 1: 84,877,749 (GRCm39) I137T probably damaging Het
Fcer1a T C 1: 173,050,208 (GRCm39) I161V possibly damaging Het
Fsip2 A G 2: 82,818,103 (GRCm39) Y4612C probably benign Het
Gcnt2 T A 13: 41,111,670 (GRCm39) L353* probably null Het
Ghrhr T C 6: 55,358,739 (GRCm39) F172S probably damaging Het
Gins1 T A 2: 150,759,781 (GRCm39) probably null Het
Gm16519 T G 17: 71,236,237 (GRCm39) L62R probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Greb1l A G 18: 10,498,965 (GRCm39) T283A probably benign Het
Grin2c T A 11: 115,143,573 (GRCm39) D729V probably damaging Het
Heatr4 T G 12: 84,024,841 (GRCm39) T327P probably damaging Het
Hes2 A C 4: 152,244,845 (GRCm39) S105R probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itih1 A T 14: 30,651,788 (GRCm39) D851E probably benign Het
Klhdc7b A G 15: 89,271,472 (GRCm39) T785A probably benign Het
Lmbr1 G T 5: 29,551,863 (GRCm39) A74E probably damaging Het
Lonp1 A C 17: 56,929,511 (GRCm39) H175Q probably benign Het
Maml2 T C 9: 13,531,371 (GRCm39) F195S probably damaging Het
Man2b2 G T 5: 36,974,983 (GRCm39) T436K probably benign Het
Man2c1 T C 9: 57,049,439 (GRCm39) probably null Het
Mrps15 G A 4: 125,940,837 (GRCm39) probably benign Het
Mtrf1l C A 10: 5,767,586 (GRCm39) V177F probably benign Het
Naxd A T 8: 11,559,489 (GRCm39) I213F probably damaging Het
Nbeal1 T A 1: 60,267,890 (GRCm39) probably benign Het
Nfatc1 T C 18: 80,741,047 (GRCm39) I318V probably damaging Het
Nid2 T A 14: 19,858,078 (GRCm39) I1297N probably damaging Het
Nol10 T C 12: 17,398,562 (GRCm39) V3A probably damaging Het
Nop14 G T 5: 34,796,562 (GRCm39) P765Q probably damaging Het
Noxa1 C T 2: 24,981,761 (GRCm39) G114D probably damaging Het
Ntmt2 A T 1: 163,552,597 (GRCm39) F10I probably damaging Het
Opa1 T C 16: 29,405,857 (GRCm39) W141R probably damaging Het
Or10a2 G A 7: 106,673,761 (GRCm39) C242Y probably damaging Het
Or13p4 A T 4: 118,546,667 (GRCm39) probably benign Het
Or5d18 A G 2: 87,864,898 (GRCm39) V195A probably benign Het
Or8h10 A G 2: 86,808,618 (GRCm39) I174T possibly damaging Het
Pde4d A T 13: 110,070,411 (GRCm39) M7L probably benign Het
Phykpl G A 11: 51,483,056 (GRCm39) A188T probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pkhd1l1 T A 15: 44,403,078 (GRCm39) V2260D probably damaging Het
Ptprt T C 2: 161,395,765 (GRCm39) E1136G probably damaging Het
Rad21 A T 15: 51,833,420 (GRCm39) L353Q probably damaging Het
Rfx4 G T 10: 84,716,760 (GRCm39) A425S probably benign Het
Rnf38 A G 4: 44,142,450 (GRCm39) S169P probably damaging Het
Samd9l C A 6: 3,376,347 (GRCm39) V305F probably damaging Het
Serpini1 A G 3: 75,523,883 (GRCm39) K164E probably benign Het
Sirt6 A G 10: 81,462,408 (GRCm39) L37P probably damaging Het
Sorbs1 T C 19: 40,361,962 (GRCm39) T141A probably damaging Het
Tacc2 A T 7: 130,227,946 (GRCm39) T1563S probably benign Het
Tbc1d14 A C 5: 36,687,725 (GRCm39) probably benign Het
Tbrg4 G A 11: 6,570,185 (GRCm39) probably benign Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tpp1 A T 7: 105,400,913 (GRCm39) L38Q probably benign Het
Trhr A G 15: 44,061,037 (GRCm39) N186D probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Tsen54 T A 11: 115,706,247 (GRCm39) probably benign Het
Tsg101 A G 7: 46,542,257 (GRCm39) I138T possibly damaging Het
Usp22 A G 11: 61,052,269 (GRCm39) S237P probably damaging Het
Vmn1r209 A G 13: 22,990,619 (GRCm39) S24P possibly damaging Het
Vmn2r18 A T 5: 151,508,424 (GRCm39) H233Q possibly damaging Het
Vmn2r45 A T 7: 8,486,436 (GRCm39) I284N probably benign Het
Vmn2r66 T C 7: 84,644,296 (GRCm39) I705V possibly damaging Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zdhhc11 T A 13: 74,127,349 (GRCm39) M242K probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign 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
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
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'- TGTCCTTCACTGCTATGGTGAC -3'
(R):5'- TCTGTGAGGAACGTCACCTG -3'

Sequencing Primer
(F):5'- GTGACTTACCAATAGTCCTCACAG -3'
(R):5'- GAGGAACGTCACCTGCTCCAC -3'
Posted On 2015-09-25