Incidental Mutation 'R1340:Bltp3a'
ID 157022
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 039405-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1340 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28113695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1289 (N1289S)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably benign
Transcript: ENSMUST00000114849
AA Change: N1289S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: N1289S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.9%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,628,581 (GRCm39) probably benign Het
Acat3 C T 17: 13,148,564 (GRCm39) probably benign Het
Actn1 T C 12: 80,219,918 (GRCm39) probably null Het
Adam8 G A 7: 139,571,290 (GRCm39) S38F probably damaging Het
Aldh9a1 T G 1: 167,184,913 (GRCm39) I275S probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Alms1 G A 6: 85,644,939 (GRCm39) probably null Het
Cacna1d A G 14: 29,794,024 (GRCm39) V1539A probably damaging Het
Cacna1e A G 1: 154,348,403 (GRCm39) L724P probably damaging Het
Ccdc110 A G 8: 46,395,218 (GRCm39) T370A probably benign Het
Ccdc9 G A 7: 16,009,315 (GRCm39) probably benign Het
Cep120 A T 18: 53,857,463 (GRCm39) V334E probably damaging Het
Ces3a C T 8: 105,784,545 (GRCm39) P462L probably damaging Het
Cgref1 A G 5: 31,102,690 (GRCm39) probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Csrnp3 T A 2: 65,832,740 (GRCm39) F81Y probably damaging Het
Ddr2 T C 1: 169,825,653 (GRCm39) T316A probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l5 A T 1: 119,476,861 (GRCm39) *740R probably null Het
Gfpt2 A G 11: 49,723,688 (GRCm39) K559E probably damaging Het
Gm2381 A G 7: 42,469,828 (GRCm39) Y99H possibly damaging Het
Gsdma2 T C 11: 98,548,475 (GRCm39) V242A probably damaging Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrriq4 A C 3: 30,704,472 (GRCm39) T167P possibly damaging Het
Mtarc2 T C 1: 184,554,744 (GRCm39) T254A probably benign Het
Naip2 G A 13: 100,325,630 (GRCm39) L93F possibly damaging Het
Nefh G GNNNNNNNNNNNNNNNNNN 11: 4,891,002 (GRCm39) probably benign Het
Nrp1 T C 8: 129,160,836 (GRCm39) S321P probably damaging Het
Nt5c1b T C 12: 10,427,276 (GRCm39) V342A probably damaging Het
Nt5c3 A G 6: 56,860,018 (GRCm39) M273T probably benign Het
Or12j2 A G 7: 139,916,038 (GRCm39) T88A probably benign Het
Or1l4b T G 2: 37,036,769 (GRCm39) L182V probably benign Het
Or6b1 G A 6: 42,814,943 (GRCm39) V43M probably benign Het
Polr3f A G 2: 144,380,548 (GRCm39) H297R probably benign Het
Ptgs2 T G 1: 149,981,228 (GRCm39) F504V probably damaging Het
Ptpro C T 6: 137,418,079 (GRCm39) P142L possibly damaging Het
Rps17 A G 7: 80,993,481 (GRCm39) probably null Het
Ryr1 A G 7: 28,815,437 (GRCm39) S132P probably damaging Het
Sacs T C 14: 61,441,958 (GRCm39) S1335P probably damaging Het
Senp6 T C 9: 80,029,305 (GRCm39) V383A possibly damaging Het
Skint7 T C 4: 111,837,416 (GRCm39) F65L probably damaging Het
Slc35f1 T C 10: 52,965,550 (GRCm39) Y322H probably damaging Het
Slc38a4 C A 15: 96,908,153 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sox15 T A 11: 69,546,373 (GRCm39) S59T probably damaging Het
Srcap T A 7: 127,159,910 (GRCm39) probably benign Het
Txlnb A T 10: 17,718,488 (GRCm39) I440F probably damaging Het
Vmn1r178 A G 7: 23,593,281 (GRCm39) S37G probably benign Het
Vmn2r75 T C 7: 85,797,798 (GRCm39) T672A probably damaging Het
Wscd1 T C 11: 71,659,586 (GRCm39) V222A 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
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
Predicted Primers PCR Primer
(F):5'- AGGCGCAGGTTTTCAAGAACCCTC -3'
(R):5'- GGGCACTTTGACACCATCATTCTCC -3'

Sequencing Primer
(F):5'- GGTTTTCAAGAACCCTCAAATCTG -3'
(R):5'- ggcaatttgtgagaacaggg -3'
Posted On 2014-02-11