Incidental Mutation 'R0726:Bltp3a'
ID 63785
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 038908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0726 (G1)
Quality Score 125
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28104463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 503 (V503A)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect possibly damaging
Transcript: ENSMUST00000114849
AA Change: V503A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: V503A

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 0.2004 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.1%
  • 20x: 89.2%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A G 7: 143,425,498 (GRCm39) D49G probably damaging Het
Alg12 T C 15: 88,690,850 (GRCm39) Y256C probably damaging Het
Alox15 T A 11: 70,241,021 (GRCm39) D160V probably damaging Het
Aox1 T C 1: 58,373,941 (GRCm39) probably benign Het
Bbs9 G T 9: 22,705,119 (GRCm39) A729S probably damaging Het
Bmp2k T A 5: 97,235,353 (GRCm39) probably benign Het
Braf C T 6: 39,639,082 (GRCm39) R223Q possibly damaging Het
Cd101 A T 3: 100,927,938 (GRCm39) S48T possibly damaging Het
Cdh9 T G 15: 16,831,130 (GRCm39) D322E probably benign Het
Col28a1 C T 6: 8,014,495 (GRCm39) probably null Het
Cpxm1 G A 2: 130,232,859 (GRCm39) R712W probably damaging Het
Csnk1g1 T C 9: 65,939,637 (GRCm39) probably benign Het
Cyp2d37-ps A C 15: 82,574,650 (GRCm39) noncoding transcript Het
Cyth3 T C 5: 143,678,397 (GRCm39) V115A probably benign Het
Dnah9 C T 11: 65,856,507 (GRCm39) V2885M probably damaging Het
Dock9 G T 14: 121,889,180 (GRCm39) Y326* probably null Het
Espl1 T C 15: 102,231,033 (GRCm39) I1844T probably benign Het
Fam20a T A 11: 109,568,020 (GRCm39) N357Y probably damaging Het
Fancc C A 13: 63,471,225 (GRCm39) R385L probably benign Het
Foxe3 A T 4: 114,782,447 (GRCm39) L255H unknown Het
Frem2 T C 3: 53,427,047 (GRCm39) D2967G possibly damaging Het
Gabra6 T G 11: 42,205,954 (GRCm39) T301P probably damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Grm4 T A 17: 27,657,412 (GRCm39) probably benign Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnj9 G A 1: 172,153,488 (GRCm39) S212F probably damaging Het
Kif15 C A 9: 122,788,993 (GRCm39) H62N probably benign Het
Kptn A G 7: 15,854,647 (GRCm39) D106G probably damaging Het
Krtap13-1 T A 16: 88,526,192 (GRCm39) S139T probably damaging Het
Lepr C A 4: 101,622,131 (GRCm39) N354K probably benign Het
Lypd3 G T 7: 24,337,969 (GRCm39) E112* probably null Het
Med13l A T 5: 118,886,749 (GRCm39) N1550I probably damaging Het
Mettl2 C T 11: 105,017,670 (GRCm39) P60L probably benign Het
Mtcl2 G T 2: 156,902,182 (GRCm39) R278S probably damaging Het
Muc4 A G 16: 32,590,201 (GRCm39) E850G probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nek1 A G 8: 61,542,626 (GRCm39) R739G probably damaging Het
Nipbl A T 15: 8,381,039 (GRCm39) D584E probably benign Het
Nkain3 C T 4: 20,158,388 (GRCm39) V162M possibly damaging Het
Nmrk1 T C 19: 18,618,844 (GRCm39) probably benign Het
Nsd2 T C 5: 34,018,372 (GRCm39) probably benign Het
Or2n1b T C 17: 38,459,515 (GRCm39) F12S probably damaging Het
Or4b1 T A 2: 89,979,627 (GRCm39) H241L probably damaging Het
Or4p23 A T 2: 88,576,352 (GRCm39) N293K probably benign Het
Or5b24 T A 19: 12,912,969 (GRCm39) V289D probably damaging Het
Or8b44 T A 9: 38,410,418 (GRCm39) M151K possibly damaging Het
Otulinl A T 15: 27,657,033 (GRCm39) I338N probably damaging Het
Phex T A X: 156,155,557 (GRCm39) probably benign Het
Pip5k1b G T 19: 24,356,256 (GRCm39) D227E probably damaging Het
Prdm13 A G 4: 21,683,914 (GRCm39) I119T unknown Het
Rab19 G T 6: 39,360,893 (GRCm39) V14L probably benign Het
Rasa3 A G 8: 13,630,118 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,678,074 (GRCm39) S118N probably damaging Het
Rif1 C T 2: 52,000,365 (GRCm39) T1273M possibly damaging Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Sema6a T C 18: 47,425,048 (GRCm39) T188A probably damaging Het
Sh3pxd2a C T 19: 47,257,201 (GRCm39) E506K probably damaging Het
Smarca2 A T 19: 26,675,803 (GRCm39) K1014N probably damaging Het
Smarca4 T G 9: 21,611,435 (GRCm39) probably null Het
Sntb1 T C 15: 55,539,752 (GRCm39) R361G probably benign Het
Stx5a T A 19: 8,732,275 (GRCm39) I208N probably damaging Het
Tas2r102 T A 6: 132,739,415 (GRCm39) W108R probably damaging Het
Tcl1 A G 12: 105,184,929 (GRCm39) Y94H probably damaging Het
Tenm3 T A 8: 48,689,629 (GRCm39) Y1986F probably damaging Het
Tet2 G A 3: 133,173,945 (GRCm39) P1439L probably benign Het
Tiam2 T C 17: 3,563,108 (GRCm39) probably benign Het
Ubap2l G A 3: 89,928,553 (GRCm39) T526M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ushbp1 T A 8: 71,841,391 (GRCm39) probably benign Het
Usp28 C T 9: 48,915,169 (GRCm39) R115C probably damaging Het
Vldlr A T 19: 27,215,786 (GRCm39) D261V probably damaging Het
Vmn2r5 C T 3: 64,411,186 (GRCm39) D461N probably benign Het
Vmn2r86 A T 10: 130,282,265 (GRCm39) F784I probably damaging Het
Zfp59 A T 7: 27,553,513 (GRCm39) I322F probably damaging Het
Zfp607a A T 7: 27,578,574 (GRCm39) H548L probably benign Het
Zfp626 G A 7: 27,518,048 (GRCm39) C343Y 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
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
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'- GCTGAAATGAGCTTGGACTGGCTAC -3'
(R):5'- ACCCCAGGGCAGTTTTAACTTCAAC -3'

Sequencing Primer
(F):5'- CTTGGACTGGCTACATGGGAC -3'
(R):5'- TTTAACTTCAACAAAACTGACTCGC -3'
Posted On 2013-07-30