Incidental Mutation 'R8788:Btnl9'
ID 670770
Institutional Source Beutler Lab
Gene Symbol Btnl9
Ensembl Gene ENSMUSG00000040283
Gene Name butyrophilin-like 9
Synonyms D330012D11Rik
MMRRC Submission 068607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8788 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49059152-49077916 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49066614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 336 (M336L)
Ref Sequence ENSEMBL: ENSMUSP00000066598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000066531] [ENSMUST00000153999]
AlphaFold Q8BJE2
Predicted Effect probably benign
Transcript: ENSMUST00000046522
SMART Domains Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283

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 benign
Transcript: ENSMUST00000066531
AA Change: M336L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: M336L

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 probably benign
Transcript: ENSMUST00000153999
SMART Domains Protein: ENSMUSP00000120530
Gene: ENSMUSG00000040283

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
transmembrane domain 165 187 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A T 10: 69,718,256 (GRCm39) L502F unknown Het
Btbd8 A G 5: 107,618,853 (GRCm39) *252W probably null Het
Cd72 T C 4: 43,450,185 (GRCm39) E241G probably benign Het
Cdh23 T A 10: 60,324,372 (GRCm39) N296I probably damaging Het
Celf6 C A 9: 59,485,750 (GRCm39) S30R possibly damaging Het
Crxos T C 7: 15,632,499 (GRCm39) Y102H probably benign Het
Csmd3 A T 15: 47,470,513 (GRCm39) S2477T Het
Evi2a T A 11: 79,418,531 (GRCm39) R26S probably benign Het
Ezr T C 17: 7,021,392 (GRCm39) M182V probably benign Het
Fat2 G T 11: 55,171,929 (GRCm39) A2928D possibly damaging Het
Fetub A T 16: 22,758,182 (GRCm39) K322* probably null Het
Fscb T C 12: 64,518,395 (GRCm39) T1024A unknown Het
Gdpd1 A G 11: 86,950,318 (GRCm39) V85A probably damaging Het
Gm38119 G T 3: 92,645,537 (GRCm39) P19H unknown Het
Gpr182 T C 10: 127,586,529 (GRCm39) T141A probably benign Het
Inpp5d G A 1: 87,611,484 (GRCm39) G312D probably damaging Het
Kif26b G A 1: 178,357,090 (GRCm39) probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Maf T A 8: 116,432,612 (GRCm39) I331F probably damaging Het
Mark3 C A 12: 111,613,124 (GRCm39) S529R probably benign Het
Mmp10 A G 9: 7,502,687 (GRCm39) probably benign Het
Mrps30 T C 13: 118,523,538 (GRCm39) E78G possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nhsl3 A G 4: 129,119,743 (GRCm39) V97A probably benign Het
Or4c116 T C 2: 88,942,626 (GRCm39) T77A probably benign Het
Pcdh12 G A 18: 38,416,109 (GRCm39) L339F probably benign Het
Pdgfd A G 9: 6,377,000 (GRCm39) S365G probably benign Het
Piezo1 T C 8: 123,228,533 (GRCm39) M281V Het
Prkg2 C T 5: 99,117,839 (GRCm39) E501K probably damaging Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rfx7 T C 9: 72,524,795 (GRCm39) S662P probably benign Het
Ric8a A G 7: 140,438,806 (GRCm39) T252A probably benign Het
Sbf1 C T 15: 89,186,062 (GRCm39) R984H probably damaging Het
Sel1l3 G T 5: 53,332,148 (GRCm39) Y412* probably null Het
Slc17a6 G A 7: 51,298,908 (GRCm39) A224T probably damaging Het
Slco1a8 A T 6: 141,933,570 (GRCm39) V425D probably benign Het
Smarca4 T C 9: 21,550,024 (GRCm39) I378T probably damaging Het
Tatdn1 T C 15: 58,762,543 (GRCm39) *265W probably null Het
Tcaf2 A G 6: 42,606,472 (GRCm39) L494P probably damaging Het
Tcl1b2 T C 12: 105,113,380 (GRCm39) L11P probably benign Het
Thrb A G 14: 18,002,558 (GRCm38) E119G probably damaging Het
Tll2 T C 19: 41,109,814 (GRCm39) T317A probably benign Het
Tob2 AGATGATGA AGATGA 15: 81,735,928 (GRCm39) probably benign Het
Upk1b A G 16: 38,607,463 (GRCm39) L88P probably damaging Het
Uri1 T C 7: 37,661,003 (GRCm39) I30V Het
Ush2a A T 1: 188,475,816 (GRCm39) R2918* probably null Het
Vax1 T C 19: 59,158,247 (GRCm39) D72G unknown Het
Vmn2r38 C A 7: 9,078,482 (GRCm39) M633I probably benign Het
Vmn2r95 A G 17: 18,671,790 (GRCm39) D581G probably benign Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Xrcc6 C T 15: 81,911,583 (GRCm39) L309F probably damaging Het
Xrra1 A G 7: 99,555,761 (GRCm39) Y376C probably benign Het
Zfp329 T C 7: 12,544,490 (GRCm39) T345A possibly damaging Het
Zfp574 T A 7: 24,779,816 (GRCm39) N279K unknown Het
Zfp804b T C 5: 6,822,635 (GRCm39) M143V probably benign 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
R1199:Btnl9 UTSW 11 49,071,574 (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
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'- TCATACCTTGGAAGCTCCGC -3'
(R):5'- GCAGGGACCCATCCTTTATC -3'

Sequencing Primer
(F):5'- GCTCCGCAGCTTGTAAAAATATCG -3'
(R):5'- AGGGACCCATCCTTTATCTTCAATTC -3'
Posted On 2021-04-30