Incidental Mutation 'IGL03275:Btnl1'
ID 415381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl1
Ensembl Gene ENSMUSG00000062638
Gene Name butyrophilin-like 1
Synonyms LOC240074, Btnl3, NG10, LOC240074
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03275
Quality Score
Status
Chromosome 17
Chromosomal Location 34596106-34605002 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34604486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 422 (K422N)
Ref Sequence ENSEMBL: ENSMUSP00000079140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080254]
AlphaFold Q7TST0
Predicted Effect probably damaging
Transcript: ENSMUST00000080254
AA Change: K422N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: K422N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IGv 48 129 1.28e-10 SMART
Blast:IG_like 153 223 1e-26 BLAST
transmembrane domain 249 271 N/A INTRINSIC
Pfam:SPRY 389 506 1.8e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T A 8: 73,198,968 (GRCm39) L125H probably damaging Het
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
Aspm T A 1: 139,415,033 (GRCm39) I1438N probably damaging Het
Bicdl1 A G 5: 115,869,219 (GRCm39) Y134H probably damaging Het
Ccdc158 T A 5: 92,777,491 (GRCm39) I941F probably benign Het
Crnn A G 3: 93,056,725 (GRCm39) K504E possibly damaging Het
Csmd1 T A 8: 16,207,106 (GRCm39) I1308L probably benign Het
Cwf19l1 T C 19: 44,111,696 (GRCm39) M246V probably benign Het
Desi1 T A 15: 81,887,963 (GRCm39) I36F probably damaging Het
Foxf2 A G 13: 31,810,514 (GRCm39) N151S probably damaging Het
Fryl A G 5: 73,305,376 (GRCm39) V35A possibly damaging Het
Ftdc1 T C 16: 58,436,119 (GRCm39) Y68C probably damaging Het
Gabrg3 T C 7: 56,423,095 (GRCm39) Y201C probably damaging Het
Grb10 T A 11: 11,883,591 (GRCm39) T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 (GRCm39) *371W probably null Het
Irf7 C A 7: 140,845,059 (GRCm39) R49L probably damaging Het
Itpr2 T C 6: 146,060,375 (GRCm39) probably benign Het
Jam3 T C 9: 27,012,545 (GRCm39) T201A probably damaging Het
Msantd5f6 T A 4: 73,321,653 (GRCm39) R127S possibly damaging Het
Mst1 T C 9: 107,961,587 (GRCm39) S606P possibly damaging Het
Or5p59 T A 7: 107,702,815 (GRCm39) C100S probably damaging Het
Otog A G 7: 45,955,654 (GRCm39) E2800G probably damaging Het
Ptpro C T 6: 137,427,004 (GRCm39) P292S probably damaging Het
Rab10 A T 12: 3,306,959 (GRCm39) Y79N probably damaging Het
Rc3h1 T C 1: 160,787,125 (GRCm39) probably null Het
Slc2a3 C T 6: 122,713,701 (GRCm39) probably null Het
Sptbn2 T C 19: 4,782,689 (GRCm39) Y542H possibly damaging Het
Tas2r110 T C 6: 132,845,061 (GRCm39) F31L probably damaging Het
Thoc2l T A 5: 104,666,143 (GRCm39) C222S probably benign Het
Ttn A G 2: 76,547,688 (GRCm39) S32161P probably damaging Het
Ttn A G 2: 76,775,451 (GRCm39) S1864P probably damaging Het
Vmn1r228 A G 17: 20,997,104 (GRCm39) I138T probably damaging Het
Vmn2r10 T A 5: 109,151,243 (GRCm39) T124S probably benign Het
Other mutations in Btnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Btnl1 APN 17 34,600,091 (GRCm39) missense probably damaging 1.00
IGL01743:Btnl1 APN 17 34,604,659 (GRCm39) missense probably damaging 1.00
IGL02194:Btnl1 APN 17 34,598,509 (GRCm39) missense possibly damaging 0.90
IGL02329:Btnl1 APN 17 34,601,239 (GRCm39) missense possibly damaging 0.85
3-1:Btnl1 UTSW 17 34,600,030 (GRCm39) missense probably damaging 1.00
R0021:Btnl1 UTSW 17 34,598,468 (GRCm39) missense probably benign 0.01
R0021:Btnl1 UTSW 17 34,598,468 (GRCm39) missense probably benign 0.01
R0371:Btnl1 UTSW 17 34,600,031 (GRCm39) missense probably damaging 0.99
R1689:Btnl1 UTSW 17 34,600,182 (GRCm39) nonsense probably null
R1982:Btnl1 UTSW 17 34,598,725 (GRCm39) missense possibly damaging 0.81
R2109:Btnl1 UTSW 17 34,598,578 (GRCm39) missense probably damaging 1.00
R2134:Btnl1 UTSW 17 34,604,608 (GRCm39) missense possibly damaging 0.48
R2760:Btnl1 UTSW 17 34,600,012 (GRCm39) missense probably damaging 1.00
R4084:Btnl1 UTSW 17 34,600,133 (GRCm39) missense possibly damaging 0.91
R4586:Btnl1 UTSW 17 34,601,436 (GRCm39) missense probably damaging 1.00
R4611:Btnl1 UTSW 17 34,598,699 (GRCm39) missense probably damaging 0.99
R4625:Btnl1 UTSW 17 34,598,725 (GRCm39) missense probably null 0.99
R5579:Btnl1 UTSW 17 34,600,526 (GRCm39) critical splice donor site probably null
R5811:Btnl1 UTSW 17 34,604,503 (GRCm39) missense probably damaging 1.00
R6380:Btnl1 UTSW 17 34,598,468 (GRCm39) missense probably benign 0.01
R6602:Btnl1 UTSW 17 34,604,722 (GRCm39) missense probably damaging 0.99
R6633:Btnl1 UTSW 17 34,604,305 (GRCm39) missense possibly damaging 0.86
R8134:Btnl1 UTSW 17 34,604,647 (GRCm39) missense possibly damaging 0.86
R8136:Btnl1 UTSW 17 34,599,014 (GRCm39) splice site probably null
R8840:Btnl1 UTSW 17 34,604,577 (GRCm39) missense probably benign 0.17
R9120:Btnl1 UTSW 17 34,598,681 (GRCm39) missense possibly damaging 0.85
R9515:Btnl1 UTSW 17 34,600,118 (GRCm39) missense probably benign 0.00
R9528:Btnl1 UTSW 17 34,603,352 (GRCm39) missense possibly damaging 0.91
R9577:Btnl1 UTSW 17 34,603,335 (GRCm39) missense probably benign 0.16
RF041:Btnl1 UTSW 17 34,600,342 (GRCm39) missense probably benign 0.04
X0026:Btnl1 UTSW 17 34,596,906 (GRCm39) missense probably benign
Posted On 2016-08-02