Incidental Mutation 'R6729:Bltp3b'
ID 529980
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 044847-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R6729 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 89580853-89655733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89641546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 906 (S906T)
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: S906T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: S906T

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 noncoding transcript
Transcript: ENSMUST00000219117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219749
Predicted Effect probably benign
Transcript: ENSMUST00000220375
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A T 5: 121,745,998 (GRCm39) H230Q probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,644,755 (GRCm39) V73A probably damaging Het
Apbb1 A T 7: 105,214,588 (GRCm39) M28K probably damaging Het
Atp6v1f A G 6: 29,467,964 (GRCm39) D50G probably benign Het
Cdkal1 G A 13: 29,658,678 (GRCm39) T356M probably damaging Het
Clca3a1 A G 3: 144,711,727 (GRCm39) I756T probably damaging Het
Cplane1 T C 15: 8,218,085 (GRCm39) probably null Het
Cyp17a1 A G 19: 46,659,020 (GRCm39) V207A probably benign Het
Dnah7c A G 1: 46,711,681 (GRCm39) E2636G possibly damaging Het
Gm13090 A T 4: 151,174,085 (GRCm39) probably benign Het
Nceh1 T A 3: 27,295,420 (GRCm39) L227* probably null Het
Nedd9 A G 13: 41,469,278 (GRCm39) M625T probably damaging Het
Or10n1 A T 9: 39,525,069 (GRCm39) M69L probably benign Het
Or4d1 G A 11: 87,805,676 (GRCm39) Q19* probably null Het
Or4d10c T A 19: 12,065,860 (GRCm39) M99L probably benign Het
Or8b53 A G 9: 38,667,124 (GRCm39) I47V probably benign Het
Pcsk4 T C 10: 80,160,935 (GRCm39) N297S probably damaging Het
Psg21 T A 7: 18,386,516 (GRCm39) I157F probably damaging Het
Rabep2 T C 7: 126,039,369 (GRCm39) V294A probably benign Het
Rsph1 A G 17: 31,496,226 (GRCm39) S2P unknown Het
Sacs A G 14: 61,447,967 (GRCm39) K3338E probably damaging Het
Slc35f4 T G 14: 49,556,417 (GRCm39) N112T probably benign Het
Slc43a3 T C 2: 84,768,629 (GRCm39) F83L probably damaging Het
Slc6a15 T C 10: 103,229,775 (GRCm39) V154A probably damaging Het
Synj2 T A 17: 6,036,289 (GRCm39) M1K probably null Het
Tcp1 G A 17: 13,142,140 (GRCm39) R378Q probably damaging Het
Tead2 A G 7: 44,866,658 (GRCm39) T6A probably benign Het
Tpte G T 8: 22,845,491 (GRCm39) V514L probably damaging Het
Trpm6 A G 19: 18,807,661 (GRCm39) N1069D probably damaging Het
Vmn2r105 C A 17: 20,428,605 (GRCm39) G824C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp934 A T 13: 62,640,746 (GRCm39) N2K probably damaging 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
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
R6990:Bltp3b UTSW 10 89,641,979 (GRCm39) missense probably benign 0.12
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'- AAGCTGTGATTGGAAGCCCC -3'
(R):5'- CACTCTTGTGAGAAAGTCCACTAC -3'

Sequencing Primer
(F):5'- AGCCCCGCTTCCCAGAC -3'
(R):5'- GATAAGTAGTCTAGAAAAGAAGTGCC -3'
Posted On 2018-08-01