Incidental Mutation 'IGL02686:Bltp3a'
ID 303560
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02686
Quality Score
Status
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28113563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1245 (I1245T)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably benign
Transcript: ENSMUST00000114849
AA Change: I1245T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: I1245T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137825
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 C T 12: 81,468,448 (GRCm39) G58S possibly damaging Het
Adcyap1r1 G A 6: 55,458,110 (GRCm39) A304T probably benign Het
Adipoq A G 16: 22,975,865 (GRCm39) T110A possibly damaging Het
Ago2 T C 15: 72,985,591 (GRCm39) Y668C possibly damaging Het
Ampd2 A T 3: 107,983,811 (GRCm39) D575E possibly damaging Het
Anxa5 C T 3: 36,503,504 (GRCm39) E317K probably benign Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
Bicc1 C A 10: 70,779,190 (GRCm39) probably benign Het
Bicra A G 7: 15,721,840 (GRCm39) M559T probably benign Het
Bltp3b A T 10: 89,641,055 (GRCm39) Q742L probably benign Het
Cacna1e G A 1: 154,369,155 (GRCm39) A294V probably damaging Het
Cacna1h G A 17: 25,604,723 (GRCm39) P1197S possibly damaging Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cts8 T C 13: 61,398,784 (GRCm39) T241A probably benign Het
Cubn T C 2: 13,330,037 (GRCm39) I2615V possibly damaging Het
Cxcl12 A G 6: 117,150,546 (GRCm39) probably benign Het
Fig4 T C 10: 41,140,000 (GRCm39) D307G probably damaging Het
Flt1 T C 5: 147,525,412 (GRCm39) I909V probably damaging Het
Foxk1 T A 5: 142,439,340 (GRCm39) S427T probably damaging Het
Gosr1 G A 11: 76,641,688 (GRCm39) T130M probably benign Het
Grik1 G T 16: 87,806,649 (GRCm39) probably null Het
Hipk1 C T 3: 103,685,333 (GRCm39) S94N possibly damaging Het
Ints7 T C 1: 191,318,704 (GRCm39) L147P probably damaging Het
Nsd3 A G 8: 26,156,086 (GRCm39) D551G probably damaging Het
Or11g25 G A 14: 50,723,426 (GRCm39) M170I probably benign Het
Or5p81 A T 7: 108,267,093 (GRCm39) I157F probably benign Het
Prrc2c T C 1: 162,535,516 (GRCm39) probably benign Het
Ren1 A T 1: 133,286,207 (GRCm39) N250I possibly damaging Het
Ripply2 A C 9: 86,898,009 (GRCm39) probably benign Het
Ryr1 G T 7: 28,768,975 (GRCm39) probably benign Het
Smad3 T A 9: 63,575,064 (GRCm39) K51M probably damaging Het
Snapc1 C A 12: 74,011,370 (GRCm39) probably benign Het
Srfbp1 T G 18: 52,608,726 (GRCm39) V42G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tab1 T C 15: 80,033,031 (GRCm39) V105A probably benign Het
Tat T C 8: 110,723,481 (GRCm39) V323A probably damaging Het
Tdo2 T C 3: 81,875,462 (GRCm39) N164S probably benign Het
Tefm T A 11: 80,027,722 (GRCm39) L345F probably damaging Het
Tmem145 C A 7: 25,014,150 (GRCm39) N407K probably damaging Het
Vmn2r116 A G 17: 23,607,767 (GRCm39) N445S probably damaging Het
Vmn2r20 A G 6: 123,362,585 (GRCm39) M733T probably benign Het
Vmn2r93 G A 17: 18,533,526 (GRCm39) V477M possibly damaging Het
Zdhhc4 A G 5: 143,306,146 (GRCm39) F194S probably damaging Het
Zfp738 A T 13: 67,821,771 (GRCm39) S25T probably damaging 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
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
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
Posted On 2015-04-16