Incidental Mutation 'RF005:Bltp3a'
ID 602788
Institutional Source Beutler Lab
Gene Symbol Bltp3a
Ensembl Gene ENSMUSG00000039512
Gene Name bridge-like lipid transfer protein family member 3A
Synonyms 1110020K19Rik, F830021D11Rik, Uhrf1bp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF005 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28104505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 517 (D517V)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably damaging
Transcript: ENSMUST00000114849
AA Change: D517V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: D517V

DomainStartEndE-ValueType
Pfam:Chorein_N 1 104 2.6e-18 PFAM
low complexity region 234 247 N/A INTRINSIC
low complexity region 297 306 N/A INTRINSIC
low complexity region 1128 1144 N/A INTRINSIC
low complexity region 1200 1216 N/A INTRINSIC
low complexity region 1322 1333 N/A INTRINSIC
low complexity region 1375 1386 N/A INTRINSIC
coiled coil region 1394 1424 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 94% (65/69)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,847 (GRCm39) probably benign Het
A030005L19Rik CTGCTG CTGCTGTGGATGCTG 1: 82,891,306 (GRCm39) probably benign Het
Abca1 G T 4: 53,049,125 (GRCm39) T1651N probably damaging Het
Adamtsl3 A G 7: 82,261,603 (GRCm39) T40A Het
Adgra3 A T 5: 50,170,729 (GRCm39) probably null Het
Apcs A T 1: 172,721,809 (GRCm39) M179K probably damaging Het
Baiap2 G A 11: 119,887,355 (GRCm39) E217K possibly damaging Het
Ccdc69 A G 11: 54,951,349 (GRCm39) L24P probably damaging Het
Cdh16 T G 8: 105,343,684 (GRCm39) N604T probably damaging Het
Cfb C T 17: 35,077,022 (GRCm39) V538I possibly damaging Het
Col6a3 A G 1: 90,738,984 (GRCm39) S1022P probably benign Het
Cpeb1 A G 7: 81,011,554 (GRCm39) L129S possibly damaging Het
Crybg1 A G 10: 43,880,741 (GRCm39) V149A probably benign Het
Cyp4f16 C A 17: 32,764,169 (GRCm39) probably null Het
Dlg5 G A 14: 24,208,561 (GRCm39) Q882* probably null Het
Fsip2 T A 2: 82,822,876 (GRCm39) I6203K probably benign Het
Gabre CCGGCT CCGGCTACGGCT X: 71,313,651 (GRCm39) probably null Het
Gprc5d A T 6: 135,093,517 (GRCm39) L130Q probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Hmcn1 T A 1: 150,510,897 (GRCm39) K3609* probably null Het
Hsdl2 GCTGCAG GCTGCAGCAGCAGCCACATCTGCAG 4: 59,610,652 (GRCm39) probably benign Het
Kl A C 5: 150,876,885 (GRCm39) Y235S probably benign Het
Map6d1 G A 16: 20,059,750 (GRCm39) T105I probably benign Het
Mast4 GGTGGTGGTGG GGTGGTGGTGGTGGTGG 13: 102,872,815 (GRCm39) probably benign Het
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Mms22l A G 4: 24,517,207 (GRCm39) I363V probably benign Het
Myo7a T C 7: 97,742,824 (GRCm39) I391V probably benign Het
Nab2 A T 10: 127,500,233 (GRCm39) D286E probably benign Het
Nrxn1 G A 17: 90,670,304 (GRCm39) R1144C probably damaging Het
Or51q1 A G 7: 103,628,768 (GRCm39) D123G probably damaging Het
Or52j3 T C 7: 102,835,898 (GRCm39) I30T possibly damaging Het
Or5al5 T C 2: 85,961,414 (GRCm39) M198V probably benign Het
Pan2 G A 10: 128,151,404 (GRCm39) E842K probably benign Het
Pate11 T C 9: 36,386,970 (GRCm39) S13P possibly damaging Het
Polr1has CACCACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCACCAC 17: 37,275,940 (GRCm39) probably benign Het
Prex2 A C 1: 11,255,390 (GRCm39) D1145A possibly damaging Het
Prop1 A C 11: 50,841,957 (GRCm39) Y150D possibly damaging Het
Prp2 AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC 6: 132,577,464 (GRCm39) probably benign Het
Psip1 T C 4: 83,378,735 (GRCm39) I353M probably damaging Het
Rapgef1 C A 2: 29,597,207 (GRCm39) probably null Het
Rgl1 G A 1: 152,397,114 (GRCm39) S684L probably benign Het
Sbf2 T A 7: 109,916,215 (GRCm39) D1552V probably damaging Het
Scpppq1 A C 5: 104,222,725 (GRCm39) probably null Het
Serpinh1 C T 7: 98,995,410 (GRCm39) V391M probably damaging Het
Slc35e4 A T 11: 3,857,960 (GRCm39) L215Q possibly damaging Het
Tbl3 TCTT TCTTCTT 17: 24,921,515 (GRCm39) probably benign Het
Tex15 T A 8: 34,066,705 (GRCm39) M2045K probably benign Het
Tmprss15 T C 16: 78,750,689 (GRCm39) *1070W probably null Het
Trav15-2-dv6-2 GAA GAACAA 14: 53,887,211 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim33 GCCCCGGCCCCCG GCCCCG 3: 103,187,528 (GRCm39) probably null Het
Triobp GACAA GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA 15: 78,851,261 (GRCm39) probably benign Het
Tub C A 7: 108,621,846 (GRCm39) Q95K probably benign Het
Usp9y T A Y: 1,435,046 (GRCm39) Q261L probably benign Het
Utp20 A T 10: 88,661,319 (GRCm39) D29E probably damaging Het
Vill G A 9: 118,889,507 (GRCm39) V148M probably damaging Het
Vmn2r120 C T 17: 57,828,991 (GRCm39) E535K possibly damaging Het
Zfp451 A T 1: 33,815,873 (GRCm39) Y692* probably null Het
Zfp599 A C 9: 22,165,180 (GRCm39) V65G probably benign Het
Zfp808 T C 13: 62,319,113 (GRCm39) V114A probably benign Het
Other mutations in Bltp3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Bltp3a APN 17 28,095,891 (GRCm39) splice site probably benign
IGL00786:Bltp3a APN 17 28,098,266 (GRCm39) missense probably damaging 0.99
IGL01074:Bltp3a APN 17 28,098,265 (GRCm39) missense possibly damaging 0.94
IGL01780:Bltp3a APN 17 28,112,474 (GRCm39) missense probably damaging 1.00
IGL02668:Bltp3a APN 17 28,105,549 (GRCm39) missense possibly damaging 0.53
IGL02686:Bltp3a APN 17 28,113,563 (GRCm39) missense probably benign
IGL03240:Bltp3a APN 17 28,112,227 (GRCm39) missense probably benign 0.37
hades UTSW 17 28,113,720 (GRCm39) missense probably damaging 1.00
R0167:Bltp3a UTSW 17 28,099,176 (GRCm39) missense possibly damaging 0.46
R0240:Bltp3a UTSW 17 28,114,844 (GRCm39) splice site probably benign
R0332:Bltp3a UTSW 17 28,112,268 (GRCm39) critical splice donor site probably null
R0668:Bltp3a UTSW 17 28,114,913 (GRCm39) missense probably benign 0.16
R0726:Bltp3a UTSW 17 28,104,463 (GRCm39) missense possibly damaging 0.50
R0964:Bltp3a UTSW 17 28,106,152 (GRCm39) missense probably damaging 0.96
R1125:Bltp3a UTSW 17 28,112,423 (GRCm39) missense probably damaging 1.00
R1139:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1164:Bltp3a UTSW 17 28,114,354 (GRCm39) critical splice donor site probably null
R1192:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1277:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1279:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1340:Bltp3a UTSW 17 28,113,695 (GRCm39) missense probably benign 0.00
R1341:Bltp3a UTSW 17 28,096,393 (GRCm39) splice site probably benign
R1344:Bltp3a UTSW 17 28,113,551 (GRCm39) missense probably benign 0.41
R1418:Bltp3a UTSW 17 28,113,551 (GRCm39) missense probably benign 0.41
R1552:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R1726:Bltp3a UTSW 17 28,105,225 (GRCm39) splice site probably null
R1791:Bltp3a UTSW 17 28,113,720 (GRCm39) missense probably damaging 1.00
R1796:Bltp3a UTSW 17 28,109,045 (GRCm39) missense possibly damaging 0.87
R2858:Bltp3a UTSW 17 28,104,436 (GRCm39) missense probably damaging 0.99
R3034:Bltp3a UTSW 17 28,113,720 (GRCm39) missense probably damaging 1.00
R4111:Bltp3a UTSW 17 28,105,064 (GRCm39) nonsense probably null
R4159:Bltp3a UTSW 17 28,103,061 (GRCm39) missense probably damaging 1.00
R4160:Bltp3a UTSW 17 28,103,061 (GRCm39) missense probably damaging 1.00
R4161:Bltp3a UTSW 17 28,103,061 (GRCm39) missense probably damaging 1.00
R4431:Bltp3a UTSW 17 28,104,905 (GRCm39) missense probably damaging 1.00
R4575:Bltp3a UTSW 17 28,106,477 (GRCm39) missense probably benign 0.02
R4657:Bltp3a UTSW 17 28,109,079 (GRCm39) missense probably benign 0.09
R4666:Bltp3a UTSW 17 28,112,477 (GRCm39) missense possibly damaging 0.95
R4825:Bltp3a UTSW 17 28,096,368 (GRCm39) missense probably damaging 0.98
R4872:Bltp3a UTSW 17 28,109,110 (GRCm39) missense probably benign 0.10
R4956:Bltp3a UTSW 17 28,108,958 (GRCm39) splice site probably null
R4976:Bltp3a UTSW 17 28,103,000 (GRCm39) missense probably damaging 0.99
R4982:Bltp3a UTSW 17 28,105,580 (GRCm39) missense probably benign 0.05
R5017:Bltp3a UTSW 17 28,113,713 (GRCm39) nonsense probably null
R5033:Bltp3a UTSW 17 28,105,838 (GRCm39) missense probably damaging 0.99
R5137:Bltp3a UTSW 17 28,095,964 (GRCm39) splice site probably null
R5159:Bltp3a UTSW 17 28,100,530 (GRCm39) missense probably damaging 0.98
R5177:Bltp3a UTSW 17 28,103,992 (GRCm39) missense possibly damaging 0.94
R5196:Bltp3a UTSW 17 28,075,737 (GRCm39) missense probably benign 0.09
R5214:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5352:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5354:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5425:Bltp3a UTSW 17 28,106,489 (GRCm39) missense probably benign
R5601:Bltp3a UTSW 17 28,103,468 (GRCm39) missense probably damaging 1.00
R6080:Bltp3a UTSW 17 28,099,271 (GRCm39) missense probably benign
R6088:Bltp3a UTSW 17 28,103,579 (GRCm39) critical splice donor site probably null
R6331:Bltp3a UTSW 17 28,112,175 (GRCm39) missense probably benign 0.01
R6529:Bltp3a UTSW 17 28,098,750 (GRCm39) missense possibly damaging 0.90
R6614:Bltp3a UTSW 17 28,095,899 (GRCm39) missense probably benign 0.18
R6701:Bltp3a UTSW 17 28,106,331 (GRCm39) nonsense probably null
R7082:Bltp3a UTSW 17 28,109,039 (GRCm39) missense probably damaging 1.00
R7158:Bltp3a UTSW 17 28,105,407 (GRCm39) nonsense probably null
R8338:Bltp3a UTSW 17 28,095,669 (GRCm39) missense probably damaging 1.00
R8914:Bltp3a UTSW 17 28,105,887 (GRCm39) missense possibly damaging 0.66
R9135:Bltp3a UTSW 17 28,104,902 (GRCm39) nonsense probably null
R9218:Bltp3a UTSW 17 28,114,529 (GRCm39) missense probably benign 0.00
R9421:Bltp3a UTSW 17 28,095,660 (GRCm39) missense probably damaging 1.00
R9495:Bltp3a UTSW 17 28,112,414 (GRCm39) missense probably damaging 1.00
R9514:Bltp3a UTSW 17 28,112,414 (GRCm39) missense probably damaging 1.00
R9621:Bltp3a UTSW 17 28,105,753 (GRCm39) missense probably benign 0.00
R9766:Bltp3a UTSW 17 28,105,799 (GRCm39) missense probably damaging 1.00
X0017:Bltp3a UTSW 17 28,096,315 (GRCm39) missense probably benign 0.03
Z1176:Bltp3a UTSW 17 28,105,280 (GRCm39) missense probably damaging 1.00
Z1176:Bltp3a UTSW 17 28,095,650 (GRCm39) missense probably damaging 1.00
Z1177:Bltp3a UTSW 17 28,103,940 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- GAGCTTGGACTGGCTACATG -3'
(R):5'- ACACGGCATGGCTTTCCTTG -3'

Sequencing Primer
(F):5'- ACTGGCTACATGGGACCCATC -3'
(R):5'- CCTGGAGAGACTATCAACTTCTG -3'
Posted On 2019-12-04