Incidental Mutation 'R6990:Bltp3b'
ID 543207
Institutional Source Beutler Lab
Gene Symbol Bltp3b
Ensembl Gene ENSMUSG00000019951
Gene Name bridge-like lipid transfer protein family member 3B
Synonyms Uhrf1bp1l, 2010319N22Rik, E030041M21Rik, 4930506D01Rik
MMRRC Submission 045096-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 89580853-89655733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89641979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1050 (D1050G)
Ref Sequence ENSEMBL: ENSMUSP00000020112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020112] [ENSMUST00000218607] [ENSMUST00000220375]
AlphaFold A2RSJ4
Predicted Effect probably benign
Transcript: ENSMUST00000020112
AA Change: D1050G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: D1050G

DomainStartEndE-ValueType
Pfam:Chorein_N 1 103 9.3e-21 PFAM
SCOP:d1c52__ 243 304 5e-3 SMART
low complexity region 788 801 N/A INTRINSIC
low complexity region 862 872 N/A INTRINSIC
coiled coil region 1410 1455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218607
Predicted Effect probably benign
Transcript: ENSMUST00000218776
Predicted Effect probably benign
Transcript: ENSMUST00000220375
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T G 10: 78,902,925 (GRCm39) T464P probably damaging Het
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Fam13b A G 18: 34,630,500 (GRCm39) V86A possibly damaging Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Ms4a7 A T 19: 11,310,605 (GRCm39) L38Q probably damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Tmem63a T C 1: 180,788,686 (GRCm39) V341A probably benign Het
Trpt1 A G 19: 6,975,683 (GRCm39) T146A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Uchl1 A G 5: 66,839,818 (GRCm39) E120G possibly damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I probably benign Het
Other mutations in Bltp3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Bltp3b APN 10 89,615,846 (GRCm39) missense probably damaging 1.00
IGL01102:Bltp3b APN 10 89,627,240 (GRCm39) missense probably benign 0.00
IGL01457:Bltp3b APN 10 89,641,624 (GRCm39) missense probably benign 0.06
IGL01647:Bltp3b APN 10 89,609,982 (GRCm39) critical splice donor site probably null
IGL02552:Bltp3b APN 10 89,642,605 (GRCm39) nonsense probably null
IGL02686:Bltp3b APN 10 89,641,055 (GRCm39) missense probably benign
miscreant UTSW 10 89,615,825 (GRCm39) missense probably damaging 0.97
scofflaw UTSW 10 89,641,546 (GRCm39) missense probably benign 0.01
R0019:Bltp3b UTSW 10 89,611,831 (GRCm39) missense probably damaging 1.00
R0505:Bltp3b UTSW 10 89,627,305 (GRCm39) missense probably damaging 1.00
R0746:Bltp3b UTSW 10 89,641,316 (GRCm39) missense probably benign 0.37
R1255:Bltp3b UTSW 10 89,581,132 (GRCm39) missense probably damaging 0.98
R1385:Bltp3b UTSW 10 89,626,503 (GRCm39) missense possibly damaging 0.92
R1720:Bltp3b UTSW 10 89,618,448 (GRCm39) missense probably damaging 1.00
R2142:Bltp3b UTSW 10 89,647,910 (GRCm39) missense probably damaging 1.00
R2312:Bltp3b UTSW 10 89,616,995 (GRCm39) missense probably damaging 0.99
R2986:Bltp3b UTSW 10 89,641,931 (GRCm39) missense probably benign 0.00
R4063:Bltp3b UTSW 10 89,651,917 (GRCm39) missense probably benign 0.38
R4278:Bltp3b UTSW 10 89,642,571 (GRCm39) splice site probably null
R4854:Bltp3b UTSW 10 89,630,346 (GRCm39) missense probably damaging 1.00
R4857:Bltp3b UTSW 10 89,615,825 (GRCm39) missense probably damaging 0.97
R5135:Bltp3b UTSW 10 89,625,217 (GRCm39) missense probably damaging 1.00
R5467:Bltp3b UTSW 10 89,640,961 (GRCm39) missense probably damaging 1.00
R5567:Bltp3b UTSW 10 89,644,383 (GRCm39) missense probably benign 0.18
R5767:Bltp3b UTSW 10 89,623,061 (GRCm39) missense possibly damaging 0.68
R6191:Bltp3b UTSW 10 89,641,180 (GRCm39) missense possibly damaging 0.78
R6196:Bltp3b UTSW 10 89,641,195 (GRCm39) missense probably benign 0.00
R6387:Bltp3b UTSW 10 89,638,919 (GRCm39) nonsense probably null
R6729:Bltp3b UTSW 10 89,641,546 (GRCm39) missense probably benign 0.01
R6746:Bltp3b UTSW 10 89,623,020 (GRCm39) missense probably benign 0.19
R6794:Bltp3b UTSW 10 89,641,624 (GRCm39) missense probably benign 0.06
R6892:Bltp3b UTSW 10 89,640,985 (GRCm39) missense probably benign 0.02
R7188:Bltp3b UTSW 10 89,615,744 (GRCm39) missense probably damaging 0.96
R7226:Bltp3b UTSW 10 89,644,503 (GRCm39) missense probably benign 0.00
R7376:Bltp3b UTSW 10 89,645,518 (GRCm39) missense probably damaging 1.00
R7836:Bltp3b UTSW 10 89,651,968 (GRCm39) missense probably benign 0.00
R8188:Bltp3b UTSW 10 89,647,928 (GRCm39) missense possibly damaging 0.50
R8343:Bltp3b UTSW 10 89,627,281 (GRCm39) missense probably benign
R8356:Bltp3b UTSW 10 89,647,954 (GRCm39) missense probably benign 0.00
R8367:Bltp3b UTSW 10 89,641,239 (GRCm39) missense probably damaging 1.00
R8391:Bltp3b UTSW 10 89,645,605 (GRCm39) missense possibly damaging 0.58
R8456:Bltp3b UTSW 10 89,647,954 (GRCm39) missense probably benign 0.00
R8546:Bltp3b UTSW 10 89,630,397 (GRCm39) missense probably damaging 1.00
R8728:Bltp3b UTSW 10 89,618,582 (GRCm39) missense probably benign 0.00
R8816:Bltp3b UTSW 10 89,626,597 (GRCm39) critical splice donor site probably benign
R9138:Bltp3b UTSW 10 89,615,738 (GRCm39) missense probably damaging 1.00
R9220:Bltp3b UTSW 10 89,626,457 (GRCm39) missense probably benign 0.29
R9649:Bltp3b UTSW 10 89,626,593 (GRCm39) missense probably benign 0.32
R9701:Bltp3b UTSW 10 89,615,755 (GRCm39) missense probably benign
R9720:Bltp3b UTSW 10 89,641,219 (GRCm39) missense probably benign 0.22
R9802:Bltp3b UTSW 10 89,615,755 (GRCm39) missense probably benign
X0060:Bltp3b UTSW 10 89,641,241 (GRCm39) missense probably damaging 0.98
Z1177:Bltp3b UTSW 10 89,647,934 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GCTCAGGAGAAATGACCTCAG -3'
(R):5'- CCTGACAATGCCACACTTTG -3'

Sequencing Primer
(F):5'- CCTCAGAAGGGAGTCACACAAAG -3'
(R):5'- AATGCCACACTTTGTCCTGAGG -3'
Posted On 2018-11-28