Incidental Mutation 'IGL02194:Btnl1'
ID283994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl1
Ensembl Gene ENSMUSG00000062638
Gene Namebutyrophilin-like 1
SynonymsBtnl3, LOC240074, LOC240074, NG10
Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02194
Quality Score
Status
Chromosome17
Chromosomal Location34377132-34385776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 34379535 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 42 (T42P)
Ref Sequence ENSEMBL: ENSMUSP00000079140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080254]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080254
AA Change: T42P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: T42P

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,591,355 Q230* probably null Het
Akap5 C T 12: 76,328,033 P80S probably damaging Het
Akap6 T A 12: 52,886,823 M366K probably benign Het
Ankef1 T A 2: 136,550,509 D539E probably benign Het
Anxa11 A G 14: 25,870,129 D39G unknown Het
Atp13a4 G T 16: 29,456,629 H346N probably damaging Het
Cul3 T A 1: 80,323,037 Y29F probably benign Het
Dcun1d4 A G 5: 73,481,201 probably benign Het
Det1 A T 7: 78,840,164 V371E probably benign Het
Duoxa2 C A 2: 122,301,849 A248D possibly damaging Het
E330021D16Rik T C 6: 136,401,058 Q258R probably benign Het
Ehbp1l1 A T 19: 5,718,857 I806K probably benign Het
Fam76b G T 9: 13,832,978 G124W probably damaging Het
Fhl5 T C 4: 25,211,341 E117G probably benign Het
Ighv15-2 T C 12: 114,564,721 I70V probably damaging Het
Iqca T C 1: 90,045,663 T768A probably benign Het
Itih1 A C 14: 30,930,365 D786E probably benign Het
Krt15 A G 11: 100,132,013 probably benign Het
Lgals9 T A 11: 78,966,920 probably null Het
Map3k4 G T 17: 12,263,928 P634H probably damaging Het
Map3k4 G T 17: 12,248,995 Q1051K probably benign Het
Mettl21e T C 1: 44,211,183 D21G probably benign Het
Mre11a T C 9: 14,815,209 S423P possibly damaging Het
Mzf1 T A 7: 13,043,720 T665S possibly damaging Het
Olfr1216 T C 2: 89,013,887 Y59C probably damaging Het
Olfr371 T A 8: 85,230,633 I46N possibly damaging Het
Otx2 A T 14: 48,661,393 V52D possibly damaging Het
Rnf157 C T 11: 116,347,032 probably null Het
Ssxa1 T A X: 21,121,155 I115N unknown Het
Other mutations in Btnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Btnl1 APN 17 34381117 missense probably damaging 1.00
IGL01743:Btnl1 APN 17 34385685 missense probably damaging 1.00
IGL02329:Btnl1 APN 17 34382265 missense possibly damaging 0.85
IGL03275:Btnl1 APN 17 34385512 missense probably damaging 0.99
3-1:Btnl1 UTSW 17 34381056 missense probably damaging 1.00
R0021:Btnl1 UTSW 17 34379494 missense probably benign 0.01
R0021:Btnl1 UTSW 17 34379494 missense probably benign 0.01
R0371:Btnl1 UTSW 17 34381057 missense probably damaging 0.99
R1689:Btnl1 UTSW 17 34381208 nonsense probably null
R1982:Btnl1 UTSW 17 34379751 missense possibly damaging 0.81
R2109:Btnl1 UTSW 17 34379604 missense probably damaging 1.00
R2134:Btnl1 UTSW 17 34385634 missense possibly damaging 0.48
R2760:Btnl1 UTSW 17 34381038 missense probably damaging 1.00
R4084:Btnl1 UTSW 17 34381159 missense possibly damaging 0.91
R4586:Btnl1 UTSW 17 34382462 missense probably damaging 1.00
R4611:Btnl1 UTSW 17 34379725 missense probably damaging 0.99
R4625:Btnl1 UTSW 17 34379751 missense probably null 0.99
R5579:Btnl1 UTSW 17 34381552 critical splice donor site probably null
R5811:Btnl1 UTSW 17 34385529 missense probably damaging 1.00
R6380:Btnl1 UTSW 17 34379494 missense probably benign 0.01
R6602:Btnl1 UTSW 17 34385748 missense probably damaging 0.99
R6633:Btnl1 UTSW 17 34385331 missense possibly damaging 0.86
R8134:Btnl1 UTSW 17 34385673 missense possibly damaging 0.86
RF041:Btnl1 UTSW 17 34381368 missense probably benign 0.04
X0026:Btnl1 UTSW 17 34377932 missense probably benign
Posted On2015-04-16