Incidental Mutation 'R8356:Bltp3b'
ID 645785
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 067870-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R8356 (G1)
Quality Score 203.009
Status Not validated
Chromosome 10
Chromosomal Location 89580853-89655733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89647954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1339 (T1339A)
Ref Sequence ENSEMBL: ENSMUSP00000020112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020112] [ENSMUST00000218607]
AlphaFold A2RSJ4
Predicted Effect probably benign
Transcript: ENSMUST00000020112
AA Change: T1339A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: T1339A

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
AA Change: T222A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000218776
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,842,360 (GRCm39) E1098G probably benign Het
Akap1 T A 11: 88,725,557 (GRCm39) probably null Het
Arhgap26 T C 18: 39,244,901 (GRCm39) V182A possibly damaging Het
Arhgef19 A G 4: 140,977,926 (GRCm39) K545R probably benign Het
Asph C T 4: 9,537,722 (GRCm39) R352Q probably benign Het
B3glct T A 5: 149,650,254 (GRCm39) I119N probably damaging Het
Camsap3 C T 8: 3,650,679 (GRCm39) R236* probably null Het
Ccser2 A T 14: 36,612,331 (GRCm39) M792K probably benign Het
Ceacam5 C T 7: 17,479,624 (GRCm39) T247I possibly damaging Het
Dnah9 A G 11: 66,047,764 (GRCm39) S19P probably damaging Het
Dtwd1 A G 2: 126,000,451 (GRCm39) E129G probably damaging Het
Ebf3 T A 7: 136,800,916 (GRCm39) M490L probably benign Het
Erbb4 A G 1: 68,110,789 (GRCm39) L1008S probably damaging Het
Ereg C T 5: 91,237,993 (GRCm39) P160S possibly damaging Het
Exoc6b ATTT ATTTT 6: 84,821,077 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,385 (GRCm39) T362A unknown Het
Gm14326 A T 2: 177,590,312 (GRCm39) D16E probably benign Het
H1f8 A T 6: 115,925,745 (GRCm39) M181L probably benign Het
H3c1 A T 13: 23,946,083 (GRCm39) F85Y probably damaging Het
Herc6 A T 6: 57,575,548 (GRCm39) T190S probably benign Het
Lama1 T G 17: 68,044,491 (GRCm39) I130S Het
Letm2 T C 8: 26,071,729 (GRCm39) D391G probably damaging Het
Map3k9 T C 12: 81,780,892 (GRCm39) I423V probably damaging Het
Melk T A 4: 44,312,191 (GRCm39) C168S possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Naa16 A T 14: 79,596,915 (GRCm39) N356K probably benign Het
Nup214 A G 2: 31,929,372 (GRCm39) N1873S probably benign Het
Or2y1f C T 11: 49,184,385 (GRCm39) P79L probably damaging Het
Or8b41 T A 9: 38,054,981 (GRCm39) C178* probably null Het
Pom121 A G 5: 135,410,032 (GRCm39) F1042L unknown Het
Pramel51 T A 12: 88,143,986 (GRCm39) T284S probably benign Het
Pxdn T C 12: 30,061,889 (GRCm39) S1334P probably damaging Het
Ranbp1 C T 16: 18,063,170 (GRCm39) E69K probably damaging Het
Rasl11a T C 5: 146,782,045 (GRCm39) S7P probably damaging Het
Rev1 G A 1: 38,098,324 (GRCm39) R740* probably null Het
Rnf157 C T 11: 116,240,246 (GRCm39) V443M probably benign Het
Scn3a T A 2: 65,291,017 (GRCm39) T1910S probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Siah2 T C 3: 58,583,503 (GRCm39) N261S probably benign Het
Sumf2 T G 5: 129,889,003 (GRCm39) W264G possibly damaging Het
Tal1 G T 4: 114,920,625 (GRCm39) A100S probably benign Het
Tox2 G T 2: 163,046,550 (GRCm39) R9L unknown Het
Traj46 A G 14: 54,409,795 (GRCm39) E1G Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging Het
Usp21 A T 1: 171,112,290 (GRCm39) F308I probably damaging Het
Vgf A T 5: 137,061,265 (GRCm39) I476F probably damaging Het
Vmn1r142 T A 7: 21,862,748 (GRCm39) H238L probably benign Het
Vps35 G A 8: 85,987,934 (GRCm39) T739I possibly damaging Het
Wdr95 G T 5: 149,502,572 (GRCm39) C279F probably damaging Het
Zbtb32 T C 7: 30,289,381 (GRCm39) S94G unknown Het
Zdhhc13 T A 7: 48,452,747 (GRCm39) I153N 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
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
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
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'- TGACAGTGAATGCTACAGAGATC -3'
(R):5'- AGACTAACGTGGCAAAAGCATTC -3'

Sequencing Primer
(F):5'- GTGAATGCTACAGAGATCCTTTTTAG -3'
(R):5'- AGCATTCCCCAATCGTCACTACTG -3'
Posted On 2020-09-02