Incidental Mutation 'R1199:Btnl9'
ID 101226
Institutional Source Beutler Lab
Gene Symbol Btnl9
Ensembl Gene ENSMUSG00000040283
Gene Name butyrophilin-like 9
Synonyms D330012D11Rik
MMRRC Submission 039269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1199 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49059152-49077916 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49071574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 83 (V83E)
Ref Sequence ENSEMBL: ENSMUSP00000120530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000066531] [ENSMUST00000153999]
AlphaFold Q8BJE2
Predicted Effect probably damaging
Transcript: ENSMUST00000046522
AA Change: V83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: V83E

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
Pfam:Ig_2 155 243 9.2e-3 PFAM
Pfam:C2-set_2 156 238 1.7e-9 PFAM
transmembrane domain 259 281 N/A INTRINSIC
PRY 324 377 8.68e-14 SMART
SPRY 378 503 1.3e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066531
AA Change: V83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: V83E

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
Pfam:Ig_3 155 231 1e-4 PFAM
Pfam:C2-set_2 156 238 2.2e-6 PFAM
transmembrane domain 360 382 N/A INTRINSIC
PRY 419 462 3.61e-2 SMART
SPRY 463 588 1.3e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128462
Predicted Effect probably damaging
Transcript: ENSMUST00000153999
AA Change: V83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283
AA Change: V83E

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
transmembrane domain 165 187 N/A INTRINSIC
Meta Mutation Damage Score 0.8997 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,270,676 (GRCm39) H80L possibly damaging Het
A1bg A T 15: 60,791,484 (GRCm39) probably null Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
Agrn T A 4: 156,256,756 (GRCm39) Y1283F probably benign Het
Akap6 T C 12: 52,842,973 (GRCm39) V107A probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Camk2a T A 18: 61,085,396 (GRCm39) C131* probably null Het
Ccdc14 C T 16: 34,544,198 (GRCm39) T852M probably damaging Het
Cntn4 T C 6: 106,330,558 (GRCm39) probably benign Het
Cp T G 3: 20,031,316 (GRCm39) S585R probably damaging Het
Cpt1b G A 15: 89,303,213 (GRCm39) A614V probably benign Het
Crygn T C 5: 24,956,146 (GRCm39) Y153C probably damaging Het
Dennd1a A T 2: 37,851,728 (GRCm39) D53E probably damaging Het
Deptor T C 15: 55,115,406 (GRCm39) C357R probably benign Het
Dnajc28 C A 16: 91,415,530 (GRCm39) probably benign Het
Eml6 G A 11: 29,705,044 (GRCm39) A1500V possibly damaging Het
Fgd5 T A 6: 91,963,959 (GRCm39) L64Q possibly damaging Het
Fgfbp1 A G 5: 44,136,939 (GRCm39) Y118H probably damaging Het
Ftcd G A 10: 76,415,653 (GRCm39) R135H probably damaging Het
Gm5174 A T 10: 86,493,189 (GRCm39) noncoding transcript Het
Gpr37l1 A T 1: 135,094,710 (GRCm39) L178Q probably damaging Het
Gtf2ird1 A G 5: 134,439,918 (GRCm39) V104A possibly damaging Het
Irs1 T A 1: 82,267,347 (GRCm39) S290C probably damaging Het
Kel C T 6: 41,665,525 (GRCm39) V532I possibly damaging Het
Kif1c A G 11: 70,599,427 (GRCm39) E442G possibly damaging Het
Klhdc10 T A 6: 30,449,493 (GRCm39) V185D probably damaging Het
Lpp C T 16: 24,500,610 (GRCm39) R141C probably damaging Het
Or52a5 A T 7: 103,427,192 (GRCm39) M120K probably damaging Het
Or5m13 A G 2: 85,748,379 (GRCm39) I37V probably benign Het
Pcnx2 G T 8: 126,614,053 (GRCm39) P466H possibly damaging Het
Pcsk1 A T 13: 75,244,532 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,571,269 (GRCm39) probably null Het
Pomt1 A G 2: 32,140,504 (GRCm39) N454S probably benign Het
Samhd1 A T 2: 156,951,381 (GRCm39) I452N probably damaging Het
Sez6 A G 11: 77,844,711 (GRCm39) Q178R probably benign Het
Slc25a44 A G 3: 88,328,293 (GRCm39) V66A probably damaging Het
Slc46a2 T C 4: 59,914,189 (GRCm39) T245A probably benign Het
Slc4a4 G A 5: 89,363,653 (GRCm39) probably null Het
Spata6 T A 4: 111,656,342 (GRCm39) C329S possibly damaging Het
Srrm2 A T 17: 24,036,725 (GRCm39) probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Svil T A 18: 5,059,217 (GRCm39) probably benign Het
Tenm3 G T 8: 48,688,617 (GRCm39) S2323R probably damaging Het
Tsc1 G A 2: 28,555,638 (GRCm39) R245Q probably damaging Het
Ttn A G 2: 76,739,100 (GRCm39) V3813A probably benign Het
Ttn G A 2: 76,780,388 (GRCm39) T1121M possibly damaging Het
Ush2a G A 1: 188,491,992 (GRCm39) V3094I probably benign Het
Vcan A G 13: 89,827,913 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,828 (GRCm39) L3Q probably damaging Het
Vmn1r60 A C 7: 5,547,971 (GRCm39) V43G probably damaging Het
Vmn2r110 A G 17: 20,803,525 (GRCm39) I350T probably benign Het
Vmn2r86 T A 10: 130,284,443 (GRCm39) probably benign Het
Xrn1 A G 9: 95,863,814 (GRCm39) probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Btnl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Btnl9 APN 11 49,066,518 (GRCm39) missense probably damaging 1.00
IGL01923:Btnl9 APN 11 49,071,409 (GRCm39) missense probably benign 0.00
IGL02129:Btnl9 APN 11 49,060,100 (GRCm39) missense probably damaging 1.00
IGL02248:Btnl9 APN 11 49,071,625 (GRCm39) missense probably benign 0.27
IGL02795:Btnl9 APN 11 49,065,694 (GRCm39) splice site probably benign
IGL02889:Btnl9 APN 11 49,069,604 (GRCm39) missense probably damaging 1.00
IGL02796:Btnl9 UTSW 11 49,060,008 (GRCm39) missense probably damaging 0.99
R0084:Btnl9 UTSW 11 49,069,606 (GRCm39) missense possibly damaging 0.91
R0362:Btnl9 UTSW 11 49,060,443 (GRCm39) missense possibly damaging 0.73
R0417:Btnl9 UTSW 11 49,066,422 (GRCm39) missense probably damaging 1.00
R1260:Btnl9 UTSW 11 49,060,371 (GRCm39) missense probably damaging 0.98
R1802:Btnl9 UTSW 11 49,066,617 (GRCm39) missense probably benign 0.06
R2000:Btnl9 UTSW 11 49,059,948 (GRCm39) missense probably benign 0.04
R2068:Btnl9 UTSW 11 49,060,390 (GRCm39) missense probably damaging 0.98
R2130:Btnl9 UTSW 11 49,071,523 (GRCm39) missense probably damaging 0.99
R2142:Btnl9 UTSW 11 49,061,453 (GRCm39) splice site probably null
R2229:Btnl9 UTSW 11 49,059,945 (GRCm39) missense probably damaging 1.00
R2255:Btnl9 UTSW 11 49,060,143 (GRCm39) nonsense probably null
R2386:Btnl9 UTSW 11 49,069,602 (GRCm39) missense probably damaging 1.00
R3177:Btnl9 UTSW 11 49,060,503 (GRCm39) missense probably damaging 1.00
R3277:Btnl9 UTSW 11 49,060,503 (GRCm39) missense probably damaging 1.00
R3835:Btnl9 UTSW 11 49,071,512 (GRCm39) missense probably damaging 1.00
R5287:Btnl9 UTSW 11 49,060,434 (GRCm39) missense probably benign 0.20
R5352:Btnl9 UTSW 11 49,069,667 (GRCm39) missense probably benign 0.01
R5433:Btnl9 UTSW 11 49,066,830 (GRCm39) intron probably benign
R5490:Btnl9 UTSW 11 49,060,395 (GRCm39) missense probably damaging 1.00
R5576:Btnl9 UTSW 11 49,069,712 (GRCm39) missense probably benign 0.00
R6008:Btnl9 UTSW 11 49,073,792 (GRCm39) critical splice donor site probably null
R6770:Btnl9 UTSW 11 49,066,392 (GRCm39) splice site probably null
R7126:Btnl9 UTSW 11 49,060,082 (GRCm39) missense probably damaging 1.00
R7276:Btnl9 UTSW 11 49,066,617 (GRCm39) missense probably benign 0.06
R7787:Btnl9 UTSW 11 49,066,866 (GRCm39) missense unknown
R7923:Btnl9 UTSW 11 49,071,565 (GRCm39) missense probably damaging 0.97
R8050:Btnl9 UTSW 11 49,066,442 (GRCm39) missense probably benign 0.25
R8558:Btnl9 UTSW 11 49,071,619 (GRCm39) missense probably benign 0.00
R8788:Btnl9 UTSW 11 49,066,614 (GRCm39) missense probably benign 0.03
R8945:Btnl9 UTSW 11 49,065,661 (GRCm39) missense probably benign 0.38
R9105:Btnl9 UTSW 11 49,066,461 (GRCm39) missense probably benign 0.29
R9656:Btnl9 UTSW 11 49,060,008 (GRCm39) missense probably damaging 0.99
X0026:Btnl9 UTSW 11 49,060,068 (GRCm39) missense probably damaging 1.00
Z1192:Btnl9 UTSW 11 49,066,805 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAACGTACCTGCTACTTCCAGCTC -3'
(R):5'- AGCTCCTCAAATGGCATCTGCTTG -3'

Sequencing Primer
(F):5'- GGCTTCACCAGAGAAGTTGTC -3'
(R):5'- TCATACCAAGACGCAGAGCA -3'
Posted On 2014-01-15