Incidental Mutation 'R0332:Bltp3a'
ID 35954
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 038541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0332 (G1)
Quality Score 216
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 28112268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably null
Transcript: ENSMUST00000114849
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512

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 0.9485 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L 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
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
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
Predicted Primers PCR Primer
(F):5'- AAATCCATCAGCTCTCTGGTTCGC -3'
(R):5'- TGGTTATCACCCATACCTGGGCAC -3'

Sequencing Primer
(F):5'- GTTGAATGTGAACAGATCTTTCTGAC -3'
(R):5'- GCACTGTCCATGTAGAAACTG -3'
Posted On 2013-05-09