Incidental Mutation 'R1757:Btnl6'
ID 195024
Institutional Source Beutler Lab
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Name butyrophilin-like 6
Synonyms Gm6519, NG13
MMRRC Submission 039789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1757 (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 34733062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 267 (T267I)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect probably benign
Transcript: ENSMUST00000075483
AA Change: T267I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: T267I

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 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 100% (111/111)
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,049,867 (GRCm38) I219F probably damaging Het
Acvr1b A G 15: 101,096,703 (GRCm39) I207V possibly damaging Het
Adamtsl4 T C 3: 95,585,252 (GRCm39) T839A probably benign Het
Akap1 C T 11: 88,736,578 (GRCm39) R61H probably damaging Het
Akap9 A G 5: 4,051,667 (GRCm39) D1478G probably benign Het
Aloxe3 T A 11: 69,026,775 (GRCm39) V547E possibly damaging Het
Ano6 G A 15: 95,860,148 (GRCm39) A757T probably damaging Het
Armc10 A G 5: 21,858,455 (GRCm39) T167A probably damaging Het
BB019430 A C 10: 58,539,869 (GRCm39) noncoding transcript Het
Brms1 C T 19: 5,096,435 (GRCm39) R82W probably damaging Het
Catsper4 A T 4: 133,945,212 (GRCm39) F215L probably benign Het
Ccdc188 T C 16: 18,036,552 (GRCm39) F197S probably damaging Het
Cers5 A C 15: 99,634,212 (GRCm39) C379G probably benign Het
Chchd6 A G 6: 89,361,626 (GRCm39) L259P probably damaging Het
Cntnap2 T A 6: 46,736,763 (GRCm39) C730S probably damaging Het
Coch T G 12: 51,649,631 (GRCm39) V314G probably damaging Het
Cog1 T A 11: 113,543,130 (GRCm39) S213T possibly damaging Het
Crot A T 5: 9,037,828 (GRCm39) F163I probably damaging Het
Cyp4f13 A T 17: 33,148,932 (GRCm39) I162N probably damaging Het
Dab2 A T 15: 6,359,933 (GRCm39) probably benign Het
Depdc1b C T 13: 108,460,482 (GRCm39) R31W probably damaging Het
Dlk1 T C 12: 109,425,613 (GRCm39) F161S probably damaging Het
Dnah6 T C 6: 73,137,965 (GRCm39) E913G probably damaging Het
Dnajc6 A G 4: 101,455,028 (GRCm39) Y5C probably damaging Het
Dock10 T C 1: 80,511,586 (GRCm39) T1508A probably damaging Het
Dstyk A G 1: 132,361,832 (GRCm39) probably benign Het
Efcc1 T C 6: 87,726,265 (GRCm39) probably benign Het
Entpd1 T C 19: 40,727,450 (GRCm39) Y533H probably benign Het
Epha8 A T 4: 136,658,789 (GRCm39) probably null Het
Erich3 C T 3: 154,401,402 (GRCm39) T17M probably damaging Het
Ethe1 T C 7: 24,307,899 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,386,347 (GRCm39) M211K probably damaging Het
Fhod3 G A 18: 25,199,335 (GRCm39) V669M possibly damaging Het
Fktn C T 4: 53,747,003 (GRCm39) probably benign Het
Foxred1 G A 9: 35,122,130 (GRCm39) R20C probably benign Het
Gbp9 A G 5: 105,242,319 (GRCm39) L140P probably damaging Het
Gga1 T C 15: 78,773,230 (GRCm39) L286P probably damaging Het
Gml T C 15: 74,685,462 (GRCm39) probably benign Het
Gsap A T 5: 21,486,035 (GRCm39) K628N probably damaging Het
Gtf3c4 G A 2: 28,720,648 (GRCm39) probably benign Het
H2-M10.6 A C 17: 37,124,043 (GRCm39) Y169S probably benign Het
Hal G A 10: 93,330,490 (GRCm39) V245I probably benign Het
Hebp2 T C 10: 18,420,849 (GRCm39) Y72C probably damaging Het
Helz2 T C 2: 180,878,056 (GRCm39) E914G probably damaging Het
Herc3 T C 6: 58,893,455 (GRCm39) Y906H probably damaging Het
Hfm1 A T 5: 107,028,226 (GRCm39) probably null Het
Hgs C T 11: 120,370,889 (GRCm39) P582S probably damaging Het
Hoxa10 G A 6: 52,211,469 (GRCm39) P149L probably damaging Het
Inpp5j T A 11: 3,454,738 (GRCm39) Q4L possibly damaging Het
Ints8 A C 4: 11,254,109 (GRCm39) M1R probably null Het
Isg15 T C 4: 156,284,447 (GRCm39) E27G possibly damaging Het
Klf13 A T 7: 63,541,513 (GRCm39) C205S probably damaging Het
Lama1 A T 17: 68,070,831 (GRCm39) Y830F probably benign Het
Lama1 G A 17: 68,004,378 (GRCm39) V17M unknown Het
Lama3 A G 18: 12,598,556 (GRCm39) N988D probably benign Het
Lcat CAT C 8: 106,668,446 (GRCm39) probably null Het
Lct G T 1: 128,228,994 (GRCm39) P833H probably damaging Het
Lmf1 A T 17: 25,874,184 (GRCm39) R403W probably damaging Het
Me3 T G 7: 89,282,230 (GRCm39) S38A probably benign Het
Myg1 A T 15: 102,240,264 (GRCm39) D30V probably benign Het
Nbea A G 3: 55,537,610 (GRCm39) I2841T possibly damaging Het
Nek1 T A 8: 61,542,847 (GRCm39) probably null Het
Obsl1 C T 1: 75,470,527 (GRCm39) R1043H probably benign Het
Or4p23 G T 2: 88,576,361 (GRCm39) D290E probably benign Het
Or5b119 A C 19: 13,456,971 (GRCm39) V197G possibly damaging Het
Or6n2 A T 1: 173,897,224 (GRCm39) Y120F probably damaging Het
Or9m2 T G 2: 87,820,926 (GRCm39) I157R probably damaging Het
Osbpl9 A G 4: 108,921,780 (GRCm39) Y613H probably damaging Het
Per3 C T 4: 151,127,249 (GRCm39) probably null Het
Pex6 G T 17: 47,034,424 (GRCm39) V758L probably damaging Het
Pikfyve A G 1: 65,291,707 (GRCm39) I1309V probably damaging Het
Pimreg A G 11: 71,933,985 (GRCm39) E37G possibly damaging Het
Pjvk G A 2: 76,486,232 (GRCm39) V211I probably benign Het
Plekhg4 T A 8: 106,108,293 (GRCm39) V1112E probably damaging Het
Ptprz1 T A 6: 23,044,319 (GRCm39) M2106K probably damaging Het
Rdh16f2 G T 10: 127,712,765 (GRCm39) L254F probably benign Het
Rictor G A 15: 6,803,343 (GRCm39) R485Q possibly damaging Het
Rnf146 G A 10: 29,223,475 (GRCm39) T137M probably damaging Het
Rrp9 T A 9: 106,360,203 (GRCm39) C204S probably damaging Het
Rxylt1 T C 10: 121,924,920 (GRCm39) T261A probably benign Het
Serpinb9h T C 13: 33,583,336 (GRCm39) S150P probably benign Het
Shkbp1 T C 7: 27,041,776 (GRCm39) T693A probably benign Het
Skint9 A G 4: 112,271,159 (GRCm39) Y84H probably benign Het
Slc22a12 A T 19: 6,586,761 (GRCm39) probably null Het
Slfn4 T C 11: 83,076,211 (GRCm39) C26R possibly damaging Het
Snrnp200 T C 2: 127,074,363 (GRCm39) L1401P probably damaging Het
Specc1 T A 11: 62,010,110 (GRCm39) probably null Het
Spef2 A T 15: 9,717,568 (GRCm39) M316K probably damaging Het
Tbc1d22b A G 17: 29,790,647 (GRCm39) R204G probably damaging Het
Tektl1 T C 10: 78,583,058 (GRCm39) N442S probably benign Het
Tgfbr3l C A 8: 4,299,548 (GRCm39) D110E probably benign Het
Ticrr T G 7: 79,325,071 (GRCm39) S532R probably damaging Het
Ticrr C A 7: 79,328,794 (GRCm39) Y644* probably null Het
Traf3ip1 A T 1: 91,450,579 (GRCm39) T509S probably damaging Het
Trmt10b T C 4: 45,307,946 (GRCm39) Y209H probably damaging Het
Trmt6 T C 2: 132,652,157 (GRCm39) M172V probably damaging Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Tshz2 C A 2: 169,725,843 (GRCm39) F146L probably benign Het
Tspyl4 G T 10: 34,173,576 (GRCm39) E23* probably null Het
Ulk2 A T 11: 61,732,165 (GRCm39) probably benign Het
Umodl1 A T 17: 31,227,674 (GRCm39) I1336F probably damaging Het
Vezt T C 10: 93,806,425 (GRCm39) D662G probably benign Het
Vnn1 G T 10: 23,776,727 (GRCm39) Q359H probably benign Het
Vnn1 A T 10: 23,776,726 (GRCm39) Q359L possibly damaging Het
Zdhhc16 A G 19: 41,930,394 (GRCm39) N14S probably damaging Het
Zfp455 T C 13: 67,355,601 (GRCm39) S225P probably damaging Het
Zfp74 T A 7: 29,634,486 (GRCm39) E407D probably benign Het
Zic2 T A 14: 122,716,031 (GRCm39) H384Q 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
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
Predicted Primers PCR Primer
(F):5'- TCTCTGAACTACAGGCCACCTGAC -3'
(R):5'- CCTTGGAGATCCACAGTGAAGATGC -3'

Sequencing Primer
(F):5'- TGACCTAAAGGACTCCAGTTGTC -3'
(R):5'- AATCCCATCTTGGGTCAGGAG -3'
Posted On 2014-05-23