Incidental Mutation 'R7158:Bltp3a'
ID 557471
Institutional Source Beutler Lab
Gene Symbol Bltp3a
Ensembl Gene ENSMUSG00000039512
Gene Name bridge-like lipid transfer protein family member 3A
Synonyms 1110020K19Rik, F830021D11Rik, Uhrf1bp1
MMRRC Submission 045329-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7158 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 28105407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 644 (C644*)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably null
Transcript: ENSMUST00000114849
AA Change: C644*
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: C644*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,223,982 (GRCm39) M454L probably benign Het
Abca8b T A 11: 109,825,415 (GRCm39) E1595V probably damaging Het
Actr5 T A 2: 158,468,334 (GRCm39) C155S possibly damaging Het
Acvr1b T A 15: 101,091,939 (GRCm39) V73E probably benign Het
Add2 T C 6: 86,062,934 (GRCm39) Y31H probably damaging Het
Akap13 G T 7: 75,229,342 (GRCm39) V92F probably damaging Het
Alox8 T A 11: 69,076,696 (GRCm39) M568L probably benign Het
Birc6 A T 17: 74,901,371 (GRCm39) E1145V probably benign Het
Cacng1 A T 11: 107,594,665 (GRCm39) M166K probably damaging Het
Ces1f A G 8: 93,994,644 (GRCm39) F256L probably benign Het
Clpb A G 7: 101,313,039 (GRCm39) R8G probably benign Het
Col6a5 A G 9: 105,741,407 (GRCm39) V2504A possibly damaging Het
Coq8a T C 1: 180,006,749 (GRCm39) D93G probably benign Het
Cry2 A T 2: 92,244,060 (GRCm39) I371N probably damaging Het
Ddx43 A C 9: 78,319,501 (GRCm39) Q276H probably damaging Het
Dock10 T C 1: 80,564,589 (GRCm39) probably null Het
Dst A G 1: 34,313,366 (GRCm39) T4378A probably benign Het
Fezf1 T C 6: 23,245,789 (GRCm39) T459A probably benign Het
Gm10097 C T 10: 5,019,407 (GRCm39) A72V unknown Het
Hydin A G 8: 111,336,303 (GRCm39) S5027G possibly damaging Het
Inhbb A T 1: 119,348,752 (GRCm39) L22* probably null Het
Kat8 G A 7: 127,521,331 (GRCm39) G228S probably benign Het
Kif15 T A 9: 122,828,379 (GRCm39) S897T probably benign Het
Kndc1 A G 7: 139,511,773 (GRCm39) Y1460C possibly damaging Het
Krt78 T A 15: 101,860,241 (GRCm39) D225V probably benign Het
Lama3 A T 18: 12,589,869 (GRCm39) I800F probably benign Het
Mdn1 C A 4: 32,725,121 (GRCm39) T2580K probably benign Het
Mest T C 6: 30,744,913 (GRCm39) F201S possibly damaging Het
Mtmr9 A G 14: 63,764,318 (GRCm39) F470L probably benign Het
Nfic C T 10: 81,256,439 (GRCm39) R75Q probably damaging Het
Nme2 G A 11: 93,846,484 (GRCm39) probably benign Het
Nrg4 A G 9: 55,149,384 (GRCm39) L71P probably damaging Het
Pacsin2 C T 15: 83,263,943 (GRCm39) E365K possibly damaging Het
Pappa T C 4: 65,123,104 (GRCm39) I813T possibly damaging Het
Pcdhgb4 A G 18: 37,853,938 (GRCm39) E111G probably damaging Het
Pdzd8 C T 19: 59,288,589 (GRCm39) R937H probably damaging Het
Per1 T G 11: 68,994,930 (GRCm39) probably benign Het
Pex2 A G 3: 5,626,396 (GRCm39) F138L probably benign Het
Pold1 A T 7: 44,188,290 (GRCm39) N529K probably damaging Het
Pou6f2 T C 13: 18,326,623 (GRCm39) I316V Het
Prom1 A C 5: 44,170,255 (GRCm39) I682S probably damaging Het
Prpf40a T C 2: 53,042,565 (GRCm39) K481E probably damaging Het
Prrg4 A T 2: 104,662,958 (GRCm39) V216E probably damaging Het
Ptch2 C T 4: 116,971,981 (GRCm39) P1168S possibly damaging Het
Pvr C A 7: 19,652,562 (GRCm39) E118* probably null Het
R3hcc1l C T 19: 42,571,868 (GRCm39) P716S probably damaging Het
Rasa4 A G 5: 136,130,875 (GRCm39) E382G probably damaging Het
Rbp3 T A 14: 33,677,513 (GRCm39) M487K probably benign Het
Rsad2 A T 12: 26,500,779 (GRCm39) probably null Het
Shmt1 T C 11: 60,681,068 (GRCm39) I353V probably benign Het
Shprh C T 10: 11,042,474 (GRCm39) T819I probably damaging Het
Skap1 T A 11: 96,416,883 (GRCm39) F56Y possibly damaging Het
Slc22a16 G T 10: 40,449,737 (GRCm39) V79L possibly damaging Het
Slc34a1 A G 13: 55,549,044 (GRCm39) T165A probably damaging Het
Smchd1 A C 17: 71,707,145 (GRCm39) I941R probably damaging Het
Syne1 C A 10: 5,007,931 (GRCm39) V98F probably damaging Het
Tcaim A G 9: 122,648,055 (GRCm39) D190G possibly damaging Het
Tdrd9 G C 12: 112,002,800 (GRCm39) E816D probably benign Het
Tmem132d T C 5: 128,214,083 (GRCm39) K326E possibly damaging Het
Usp35 T C 7: 96,975,171 (GRCm39) M1V probably null Het
Wdr62 C T 7: 29,970,163 (GRCm39) V215I possibly damaging Het
Zan T C 5: 137,398,906 (GRCm39) T4153A unknown Het
Zfp239 G T 6: 117,848,690 (GRCm39) E143* probably null Het
Zfp292 T C 4: 34,808,679 (GRCm39) D1460G probably benign Het
Zfp647 C T 15: 76,801,505 (GRCm39) G90R 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
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
RF005:Bltp3a UTSW 17 28,104,505 (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'- GCATGGCCTTAACTGTGTCTC -3'
(R):5'- AAAATTCAGGGTATGGCCTCTG -3'

Sequencing Primer
(F):5'- GCTCGCTCTCTGAAGGTGAG -3'
(R):5'- GAAGTTTTCTGTGCCTTCAAAGTC -3'
Posted On 2019-06-26