Incidental Mutation 'R5214:Bltp3a'
ID 403377
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 042787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5214 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28106489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1005 (S1005N)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably benign
Transcript: ENSMUST00000114849
AA Change: S1005N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: S1005N

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik A G 3: 116,861,424 (GRCm39) noncoding transcript Het
4930449A18Rik A T 3: 59,733,305 (GRCm39) noncoding transcript Het
Acsbg3 T C 17: 57,193,493 (GRCm39) V613A probably benign Het
Adgrl1 G A 8: 84,642,202 (GRCm39) probably null Het
Aldh1l1 A G 6: 90,540,399 (GRCm39) D228G probably damaging Het
Ankrd17 T C 5: 90,431,319 (GRCm39) I822V possibly damaging Het
Atm C A 9: 53,402,327 (GRCm39) A1382S probably benign Het
Cacna1e T A 1: 154,577,110 (GRCm39) I96F possibly damaging Het
Calhm5 A G 10: 33,968,487 (GRCm39) S189P probably damaging Het
Ccar1 G A 10: 62,606,740 (GRCm39) R335C probably damaging Het
Ccdc113 T C 8: 96,272,601 (GRCm39) I236T possibly damaging Het
Ccdc14 T A 16: 34,525,225 (GRCm39) S125T probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdon T C 9: 35,394,504 (GRCm39) C917R probably damaging Het
Ckap2l T C 2: 129,127,389 (GRCm39) D263G probably benign Het
Cntnap3 G T 13: 64,909,824 (GRCm39) H760Q probably damaging Het
Dennd2d G A 3: 106,393,637 (GRCm39) probably null Het
Dock4 A G 12: 40,754,465 (GRCm39) I485V probably benign Het
Dspp A G 5: 104,326,364 (GRCm39) D909G unknown Het
Eps8 A T 6: 137,504,490 (GRCm39) M81K probably damaging Het
Fras1 T C 5: 96,917,452 (GRCm39) S3491P probably damaging Het
Gm17669 C T 18: 67,695,479 (GRCm39) T8I possibly damaging Het
Gm5114 G T 7: 39,057,792 (GRCm39) T609K probably benign Het
Gm973 A G 1: 59,565,880 (GRCm39) N32S probably damaging Het
Herpud1 G T 8: 95,117,479 (GRCm39) probably null Het
Jcad T A 18: 4,674,134 (GRCm39) L632Q probably damaging Het
Kcnh8 T C 17: 53,205,486 (GRCm39) L527S probably damaging Het
Klk1b11 C A 7: 43,647,266 (GRCm39) H67N probably benign Het
Ldhb T A 6: 142,441,321 (GRCm39) I190F probably damaging Het
Lrrc34 A T 3: 30,690,397 (GRCm39) C168* probably null Het
Lrtm1 C T 14: 28,743,651 (GRCm39) H40Y possibly damaging Het
Mageb3 T C 2: 121,785,319 (GRCm39) M128V possibly damaging Het
Miga2 A G 2: 30,261,208 (GRCm39) T90A probably benign Het
Msantd5 C A 11: 51,125,675 (GRCm39) H199Q possibly damaging Het
Ndrg1 G A 15: 66,831,239 (GRCm39) T24I probably damaging Het
Nos2 T C 11: 78,846,267 (GRCm39) L878P probably damaging Het
Or11g27 T G 14: 50,771,804 (GRCm39) *312E probably null Het
Pcdhgb1 T A 18: 37,814,478 (GRCm39) I323N probably damaging Het
Plec A G 15: 76,061,921 (GRCm39) I2537T probably damaging Het
Pnpo C A 11: 96,833,295 (GRCm39) E68D probably benign Het
Ppp6r1 C T 7: 4,646,176 (GRCm39) R175Q probably benign Het
Prnp C T 2: 131,778,924 (GRCm39) T192I probably damaging Het
Ptprb T C 10: 116,205,229 (GRCm39) I2148T possibly damaging Het
Raf1 G T 6: 115,614,583 (GRCm39) F99L possibly damaging Het
Rbks A G 5: 31,807,736 (GRCm39) probably benign Het
Rlf T C 4: 121,007,897 (GRCm39) D361G probably damaging Het
Rnpepl1 G T 1: 92,847,001 (GRCm39) D608Y probably benign Het
Scaf1 G A 7: 44,652,662 (GRCm39) probably benign Het
Sh3rf1 A T 8: 61,825,765 (GRCm39) M587L probably damaging Het
Slc22a21 A T 11: 53,843,869 (GRCm39) S473T probably damaging Het
Syt15 A G 14: 33,943,703 (GRCm39) D84G possibly damaging Het
Tbc1d19 T C 5: 54,007,183 (GRCm39) L236P probably benign Het
Tbx2 G T 11: 85,729,263 (GRCm39) A549S probably benign Het
Tc2n A T 12: 101,659,461 (GRCm39) C157* probably null Het
Tecta C T 9: 42,256,964 (GRCm39) V1571I probably benign Het
Them4 A G 3: 94,224,818 (GRCm39) K65R probably benign Het
Tmc5 C T 7: 118,247,155 (GRCm39) T553M probably damaging Het
Tmem200c C T 17: 69,148,122 (GRCm39) A235V probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tmf1 G C 6: 97,144,253 (GRCm39) A701G possibly damaging Het
Tomm70a G A 16: 56,942,300 (GRCm39) G26S unknown Het
Treh T C 9: 44,594,173 (GRCm39) Y140H probably damaging Het
Ttc28 A G 5: 111,325,489 (GRCm39) probably benign Het
Uba7 T C 9: 107,854,713 (GRCm39) probably benign Het
Ube4a T C 9: 44,860,166 (GRCm39) I299V probably benign Het
Zfhx4 A C 3: 5,468,701 (GRCm39) K2953T probably damaging Het
Zfp280d T A 9: 72,215,395 (GRCm39) probably benign Het
Zscan20 G A 4: 128,482,109 (GRCm39) R518C probably benign Het
Zw10 T C 9: 48,975,463 (GRCm39) I296T possibly 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
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
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'- AAGTCTGATGCCTCCTCAGACC -3'
(R):5'- GGCAAGGACAACATCTTGTG -3'

Sequencing Primer
(F):5'- TGGAGAGCTACCAGACCCAG -3'
(R):5'- GCATGGTAGAAGTCATTCGATCTCTC -3'
Posted On 2016-07-22