Incidental Mutation 'R2760:Btnl1'
ID 254021
Institutional Source Beutler Lab
Gene Symbol Btnl1
Ensembl Gene ENSMUSG00000062638
Gene Name butyrophilin-like 1
Synonyms Btnl3, LOC240074, LOC240074, NG10
Accession Numbers

Genbank: NM_001111094; MGI: 1932027

Essential gene? Non essential (E-score: 0.000) question?
Stock # R2760 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34377132-34385776 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34381038 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 172 (W172G)
Ref Sequence ENSEMBL: ENSMUSP00000079140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080254]
AlphaFold Q7TST0
Predicted Effect probably damaging
Transcript: ENSMUST00000080254
AA Change: W172G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079140
Gene: ENSMUSG00000062638
AA Change: W172G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg11 C A 8: 22,068,079 (GRCm38) A469E probably benign Het
Atp8a2 C T 14: 59,860,192 (GRCm38) V796I probably benign Het
Ceacam1 T C 7: 25,477,474 (GRCm38) T21A probably damaging Het
Fam69b A G 2: 26,635,825 (GRCm38) H257R probably benign Het
Frmpd1 A C 4: 45,244,667 (GRCm38) I119L possibly damaging Het
Haus6 A T 4: 86,583,176 (GRCm38) Y819* probably null Het
Ildr2 A G 1: 166,303,606 (GRCm38) R344G probably damaging Het
Irs1 T C 1: 82,288,570 (GRCm38) I642V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 (GRCm38) 74 probably benign Het
Lum T C 10: 97,568,771 (GRCm38) V176A probably benign Het
Nobox A G 6: 43,304,106 (GRCm38) L478P probably damaging Het
Olfr1200 T A 2: 88,767,636 (GRCm38) R226S possibly damaging Het
Olfr1415 A G 1: 92,491,080 (GRCm38) V225A probably damaging Het
Olfr544 T C 7: 102,484,376 (GRCm38) H248R probably damaging Het
Olfr8 A T 10: 78,956,042 (GRCm38) Y279F probably damaging Het
Olfr981 T A 9: 40,022,396 (GRCm38) M1K probably null Het
Rtn1 A T 12: 72,408,362 (GRCm38) C64S probably benign Het
Senp6 A G 9: 80,121,978 (GRCm38) Y285C probably null Het
Slco1a5 C A 6: 142,250,271 (GRCm38) M335I probably benign Het
Spg11 A T 2: 122,097,359 (GRCm38) I648K probably damaging Het
Ube2cbp T C 9: 86,422,974 (GRCm38) I272V probably benign Het
Ulk1 C T 5: 110,789,357 (GRCm38) R691Q probably benign Het
Utrn A G 10: 12,690,878 (GRCm38) V1180A probably damaging Het
Vill T C 9: 119,066,882 (GRCm38) probably null Het
Vmn2r101 T C 17: 19,589,639 (GRCm38) I229T probably benign Het
Zbtb8b A T 4: 129,432,500 (GRCm38) L291M probably benign Het
Other mutations in Btnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Btnl1 APN 17 34,381,117 (GRCm38) missense probably damaging 1.00
IGL01743:Btnl1 APN 17 34,385,685 (GRCm38) missense probably damaging 1.00
IGL02194:Btnl1 APN 17 34,379,535 (GRCm38) missense possibly damaging 0.90
IGL02329:Btnl1 APN 17 34,382,265 (GRCm38) missense possibly damaging 0.85
IGL03275:Btnl1 APN 17 34,385,512 (GRCm38) missense probably damaging 0.99
3-1:Btnl1 UTSW 17 34,381,056 (GRCm38) missense probably damaging 1.00
R0021:Btnl1 UTSW 17 34,379,494 (GRCm38) missense probably benign 0.01
R0021:Btnl1 UTSW 17 34,379,494 (GRCm38) missense probably benign 0.01
R0371:Btnl1 UTSW 17 34,381,057 (GRCm38) missense probably damaging 0.99
R1689:Btnl1 UTSW 17 34,381,208 (GRCm38) nonsense probably null
R1982:Btnl1 UTSW 17 34,379,751 (GRCm38) missense possibly damaging 0.81
R2109:Btnl1 UTSW 17 34,379,604 (GRCm38) missense probably damaging 1.00
R2134:Btnl1 UTSW 17 34,385,634 (GRCm38) missense possibly damaging 0.48
R4084:Btnl1 UTSW 17 34,381,159 (GRCm38) missense possibly damaging 0.91
R4586:Btnl1 UTSW 17 34,382,462 (GRCm38) missense probably damaging 1.00
R4611:Btnl1 UTSW 17 34,379,725 (GRCm38) missense probably damaging 0.99
R4625:Btnl1 UTSW 17 34,379,751 (GRCm38) missense probably null 0.99
R5579:Btnl1 UTSW 17 34,381,552 (GRCm38) critical splice donor site probably null
R5811:Btnl1 UTSW 17 34,385,529 (GRCm38) missense probably damaging 1.00
R6380:Btnl1 UTSW 17 34,379,494 (GRCm38) missense probably benign 0.01
R6602:Btnl1 UTSW 17 34,385,748 (GRCm38) missense probably damaging 0.99
R6633:Btnl1 UTSW 17 34,385,331 (GRCm38) missense possibly damaging 0.86
R8134:Btnl1 UTSW 17 34,385,673 (GRCm38) missense possibly damaging 0.86
R8136:Btnl1 UTSW 17 34,380,040 (GRCm38) splice site probably null
R8840:Btnl1 UTSW 17 34,385,603 (GRCm38) missense probably benign 0.17
R9120:Btnl1 UTSW 17 34,379,707 (GRCm38) missense possibly damaging 0.85
R9515:Btnl1 UTSW 17 34,381,144 (GRCm38) missense probably benign 0.00
R9528:Btnl1 UTSW 17 34,384,378 (GRCm38) missense possibly damaging 0.91
R9577:Btnl1 UTSW 17 34,384,361 (GRCm38) missense probably benign 0.16
RF041:Btnl1 UTSW 17 34,381,368 (GRCm38) missense probably benign 0.04
X0026:Btnl1 UTSW 17 34,377,932 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCAGTGTCACAGGGTAGC -3'
(R):5'- CCTGTCAGAGTTTGGTCCTC -3'

Sequencing Primer
(F):5'- AGTGTCACAGGGTAGCCTCAG -3'
(R):5'- CGATTTCTCCTGGTCATACATGGG -3'
Posted On 2014-12-04