Incidental Mutation 'R4927:Btn1a1'
ID 380927
Institutional Source Beutler Lab
Gene Symbol Btn1a1
Ensembl Gene ENSMUSG00000000706
Gene Name butyrophilin, subfamily 1, member A1
Synonyms Btn
MMRRC Submission 042528-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4927 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 23641162-23650071 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 23644794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041674] [ENSMUST00000041674] [ENSMUST00000041674] [ENSMUST00000041674] [ENSMUST00000110434]
AlphaFold Q62556
Predicted Effect probably null
Transcript: ENSMUST00000041674
SMART Domains Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
IGv 46 127 1.97e-11 SMART
IG_like 150 237 9.03e1 SMART
transmembrane domain 246 268 N/A INTRINSIC
PRY 303 355 2.64e-27 SMART
SPRY 356 477 1.46e-39 SMART
Predicted Effect probably null
Transcript: ENSMUST00000041674
SMART Domains Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
IGv 46 127 1.97e-11 SMART
IG_like 150 237 9.03e1 SMART
transmembrane domain 246 268 N/A INTRINSIC
PRY 303 355 2.64e-27 SMART
SPRY 356 477 1.46e-39 SMART
Predicted Effect probably null
Transcript: ENSMUST00000041674
SMART Domains Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
IGv 46 127 1.97e-11 SMART
IG_like 150 237 9.03e1 SMART
transmembrane domain 246 268 N/A INTRINSIC
PRY 303 355 2.64e-27 SMART
SPRY 356 477 1.46e-39 SMART
Predicted Effect probably null
Transcript: ENSMUST00000041674
SMART Domains Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
IGv 46 127 1.97e-11 SMART
IG_like 150 237 9.03e1 SMART
transmembrane domain 246 268 N/A INTRINSIC
PRY 303 355 2.64e-27 SMART
SPRY 356 477 1.46e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110434
SMART Domains Protein: ENSMUSP00000106064
Gene: ENSMUSG00000000706

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
IGv 46 127 1.97e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225831
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired lactation and abnormal lipid accumulation in the mammary gland. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Homez T C 14: 55,095,264 (GRCm39) E148G possibly damaging Het
Kcnab3 G A 11: 69,217,572 (GRCm39) C22Y possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Nol8 A G 13: 49,807,901 (GRCm39) E39G possibly damaging Het
Olfm1 T G 2: 28,104,798 (GRCm39) S212A probably benign Het
Or2ak6 T A 11: 58,592,633 (GRCm39) F35L probably damaging Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Pramel27 A T 4: 143,578,187 (GRCm39) Q149L probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L probably damaging Het
Other mutations in Btn1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Btn1a1 APN 13 23,645,907 (GRCm39) missense possibly damaging 0.56
IGL01608:Btn1a1 APN 13 23,645,778 (GRCm39) missense probably benign 0.00
IGL02538:Btn1a1 APN 13 23,643,385 (GRCm39) missense possibly damaging 0.50
IGL02795:Btn1a1 APN 13 23,644,786 (GRCm39) critical splice acceptor site probably null
IGL02933:Btn1a1 APN 13 23,644,697 (GRCm39) missense possibly damaging 0.63
R0063:Btn1a1 UTSW 13 23,649,267 (GRCm39) splice site probably null
R0855:Btn1a1 UTSW 13 23,648,489 (GRCm39) missense probably damaging 1.00
R1754:Btn1a1 UTSW 13 23,644,638 (GRCm39) missense probably benign 0.01
R2122:Btn1a1 UTSW 13 23,645,691 (GRCm39) missense probably damaging 1.00
R3110:Btn1a1 UTSW 13 23,645,721 (GRCm39) missense possibly damaging 0.67
R3112:Btn1a1 UTSW 13 23,645,721 (GRCm39) missense possibly damaging 0.67
R3941:Btn1a1 UTSW 13 23,643,434 (GRCm39) missense probably benign 0.01
R4169:Btn1a1 UTSW 13 23,649,325 (GRCm39) missense probably benign
R4924:Btn1a1 UTSW 13 23,648,396 (GRCm39) splice site probably benign
R5255:Btn1a1 UTSW 13 23,648,324 (GRCm39) intron probably benign
R5554:Btn1a1 UTSW 13 23,643,295 (GRCm39) missense possibly damaging 0.55
R5726:Btn1a1 UTSW 13 23,643,522 (GRCm39) missense probably damaging 1.00
R6228:Btn1a1 UTSW 13 23,648,521 (GRCm39) missense probably damaging 0.98
R6664:Btn1a1 UTSW 13 23,643,490 (GRCm39) missense probably benign 0.00
R7117:Btn1a1 UTSW 13 23,643,415 (GRCm39) missense possibly damaging 0.91
R7150:Btn1a1 UTSW 13 23,643,521 (GRCm39) missense probably damaging 1.00
R7151:Btn1a1 UTSW 13 23,643,483 (GRCm39) missense probably damaging 1.00
R7396:Btn1a1 UTSW 13 23,645,668 (GRCm39) missense probably benign 0.01
R7504:Btn1a1 UTSW 13 23,645,886 (GRCm39) missense probably benign 0.10
R7874:Btn1a1 UTSW 13 23,643,385 (GRCm39) missense possibly damaging 0.50
R7878:Btn1a1 UTSW 13 23,643,214 (GRCm39) missense possibly damaging 0.86
R8271:Btn1a1 UTSW 13 23,645,919 (GRCm39) missense probably benign
R8354:Btn1a1 UTSW 13 23,648,420 (GRCm39) missense probably benign 0.00
R8454:Btn1a1 UTSW 13 23,648,420 (GRCm39) missense probably benign 0.00
R8960:Btn1a1 UTSW 13 23,648,741 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTCATCCAAACAGGCCTGAATTC -3'
(R):5'- CTTTCTGGAAAGCTTAGCCTGG -3'

Sequencing Primer
(F):5'- CGAGACACAAAGCCCTTGGG -3'
(R):5'- CCTGGAGGGGCAATTCTTG -3'
Posted On 2016-04-15