Incidental Mutation 'R3110:Btn1a1'
ID 263843
Institutional Source Beutler Lab
Gene Symbol Btn1a1
Ensembl Gene ENSMUSG00000000706
Gene Name butyrophilin, subfamily 1, member A1
Synonyms Btn
MMRRC Submission 040584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3110 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 23641162-23650071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23645721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 216 (N216I)
Ref Sequence ENSEMBL: ENSMUSP00000041013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041674] [ENSMUST00000110434]
AlphaFold Q62556
Predicted Effect possibly damaging
Transcript: ENSMUST00000041674
AA Change: N216I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041013
Gene: ENSMUSG00000000706
AA Change: N216I

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 0.5911 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Ebf1 T A 11: 44,534,225 (GRCm39) probably benign Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gm9932 A T 5: 100,346,794 (GRCm39) unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Jmjd1c T A 10: 67,075,863 (GRCm39) probably benign Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly 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
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
R4927:Btn1a1 UTSW 13 23,644,794 (GRCm39) splice site probably null
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'- AGCCCAGCCCTAAGTATCTTTATTC -3'
(R):5'- AAATGGAGCTGGAGTGCACC -3'

Sequencing Primer
(F):5'- AGGATTTCCTTAAGTCAGCAGGC -3'
(R):5'- AGTGCACCTCCTCTGGATG -3'
Posted On 2015-02-05