Incidental Mutation 'R8402:Btnl4'
ID 652251
Institutional Source Beutler Lab
Gene Symbol Btnl4
Ensembl Gene ENSMUSG00000058435
Gene Name butyrophilin-like 4
Synonyms NG11, Btn3a3, EG632126
MMRRC Submission 067878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8402 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34687320-34696402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34688467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 437 (Y437C)
Ref Sequence ENSEMBL: ENSMUSP00000064161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065841]
AlphaFold A2CG29
Predicted Effect probably damaging
Transcript: ENSMUST00000065841
AA Change: Y437C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064161
Gene: ENSMUSG00000058435
AA Change: Y437C

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 145 2.44e-7 SMART
Pfam:C2-set_2 150 233 3.6e-6 PFAM
low complexity region 255 268 N/A INTRINSIC
low complexity region 316 328 N/A INTRINSIC
PRY 341 386 7.43e-2 SMART
SPRY 387 510 4.67e-20 SMART
low complexity region 514 554 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,376 (GRCm39) K579N probably damaging Het
Adcy7 T C 8: 89,035,363 (GRCm39) V89A probably benign Het
Anapc1 G A 2: 128,472,148 (GRCm39) S1458L probably benign Het
AW551984 T C 9: 39,508,949 (GRCm39) Y325C probably damaging Het
Ccdc88a T A 11: 29,413,879 (GRCm39) S806T probably damaging Het
Clec2m T A 6: 129,300,007 (GRCm39) D157V possibly damaging Het
Ddit4l A G 3: 137,331,888 (GRCm39) T85A probably damaging Het
Dmxl1 G A 18: 50,011,393 (GRCm39) W1183* probably null Het
Dmxl1 G T 18: 50,011,409 (GRCm39) V1189L probably benign Het
Dmxl1 G C 18: 50,011,394 (GRCm39) D1184H probably benign Het
Evpl T C 11: 116,116,197 (GRCm39) D820G probably benign Het
Fam76b T C 9: 13,750,972 (GRCm39) S289P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabrb2 T C 11: 42,378,131 (GRCm39) W116R probably damaging Het
Galnt7 G A 8: 57,995,953 (GRCm39) A355V probably damaging Het
Klk1b5 T G 7: 43,867,962 (GRCm39) F45V probably benign Het
Nav2 T C 7: 49,103,185 (GRCm39) V661A probably benign Het
Nfkbiz T C 16: 55,636,750 (GRCm39) N517S probably damaging Het
Or10ak16 A G 4: 118,750,716 (GRCm39) I145M probably benign Het
Or10d5 T A 9: 39,861,713 (GRCm39) Y118F probably benign Het
P2rx1 T C 11: 72,904,715 (GRCm39) F368L probably damaging Het
Palld A T 8: 62,164,440 (GRCm39) V417E probably damaging Het
Robo1 C A 16: 72,821,385 (GRCm39) A1375E probably benign Het
Rps24 G T 14: 24,540,829 (GRCm39) probably benign Het
Serpind1 A G 16: 17,154,949 (GRCm39) N259D probably benign Het
Sh3bp4 C A 1: 89,073,037 (GRCm39) N628K probably benign Het
Tada3 A T 6: 113,351,774 (GRCm39) L177Q probably damaging Het
Tcam1 T A 11: 106,177,731 (GRCm39) L508Q probably damaging Het
Thbs1 T C 2: 117,946,359 (GRCm39) S360P possibly damaging Het
Tmem33 T C 5: 67,424,718 (GRCm39) probably benign Het
Vmn2r3 A G 3: 64,178,617 (GRCm39) probably benign Het
Vwa3b A G 1: 37,204,879 (GRCm39) E121G probably damaging Het
Zfp607b T A 7: 27,402,127 (GRCm39) H194Q probably damaging Het
Zfp729b G A 13: 67,740,696 (GRCm39) P523L probably damaging Het
Other mutations in Btnl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:Btnl4 APN 17 34,694,901 (GRCm39) missense probably benign 0.34
FR4589:Btnl4 UTSW 17 34,691,610 (GRCm39) missense probably benign 0.30
N/A:Btnl4 UTSW 17 34,691,560 (GRCm39) splice site probably benign
PIT4458001:Btnl4 UTSW 17 34,693,242 (GRCm39) missense probably benign 0.25
R0601:Btnl4 UTSW 17 34,688,285 (GRCm39) missense probably benign 0.07
R0718:Btnl4 UTSW 17 34,688,608 (GRCm39) missense probably benign 0.44
R1163:Btnl4 UTSW 17 34,689,049 (GRCm39) missense possibly damaging 0.65
R1823:Btnl4 UTSW 17 34,694,826 (GRCm39) critical splice donor site probably null
R1954:Btnl4 UTSW 17 34,691,904 (GRCm39) missense possibly damaging 0.87
R1955:Btnl4 UTSW 17 34,691,904 (GRCm39) missense possibly damaging 0.87
R4649:Btnl4 UTSW 17 34,691,602 (GRCm39) missense probably benign 0.12
R4651:Btnl4 UTSW 17 34,691,602 (GRCm39) missense probably benign 0.12
R4681:Btnl4 UTSW 17 34,689,075 (GRCm39) splice site probably null
R6081:Btnl4 UTSW 17 34,693,210 (GRCm39) missense probably damaging 1.00
R6770:Btnl4 UTSW 17 34,693,011 (GRCm39) missense probably benign 0.26
R6859:Btnl4 UTSW 17 34,688,353 (GRCm39) missense probably damaging 1.00
R6885:Btnl4 UTSW 17 34,691,919 (GRCm39) missense probably benign 0.00
R7265:Btnl4 UTSW 17 34,694,868 (GRCm39) missense probably benign 0.00
R7316:Btnl4 UTSW 17 34,688,031 (GRCm39) missense probably benign 0.06
R7454:Btnl4 UTSW 17 34,691,348 (GRCm39) missense probably benign
R7908:Btnl4 UTSW 17 34,692,161 (GRCm39) missense possibly damaging 0.71
R7991:Btnl4 UTSW 17 34,693,257 (GRCm39) missense probably damaging 0.99
R8086:Btnl4 UTSW 17 34,692,976 (GRCm39) critical splice donor site probably null
R9566:Btnl4 UTSW 17 34,688,263 (GRCm39) missense probably benign 0.00
X0023:Btnl4 UTSW 17 34,694,904 (GRCm39) missense possibly damaging 0.61
Z1177:Btnl4 UTSW 17 34,689,034 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCAGACTTAAGCCTGAAGTATGG -3'
(R):5'- GATTCCACTCTGTGCTTGGATG -3'

Sequencing Primer
(F):5'- CCTGAAGTATGGAAAAAGAGTCCC -3'
(R):5'- ACCTCTTCTGTGTGTTAGGCATCAG -3'
Posted On 2020-10-20