Incidental Mutation 'IGL03240:Bltp3a'
ID 414243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bltp3a
Ensembl Gene ENSMUSG00000039512
Gene Name bridge-like lipid transfer protein family member 3A
Synonyms 1110020K19Rik, F830021D11Rik, Uhrf1bp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03240
Quality Score
Status
Chromosome 17
Chromosomal Location 28075481-28119014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28112227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1167 (N1167K)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
AlphaFold B2KF50
Predicted Effect probably benign
Transcript: ENSMUST00000114849
AA Change: N1167K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: N1167K

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,350,365 (GRCm39) probably benign Het
AA467197 A G 2: 122,481,182 (GRCm39) T57A probably benign Het
Akap11 A T 14: 78,733,345 (GRCm39) D1852E probably damaging Het
Arg2 T A 12: 79,178,605 (GRCm39) probably null Het
Arhgef4 A G 1: 34,845,107 (GRCm39) D1437G probably benign Het
AW551984 C A 9: 39,500,418 (GRCm39) R780L probably benign Het
Baz1a T A 12: 54,974,352 (GRCm39) K503* probably null Het
Cdk2ap1 A T 5: 124,484,207 (GRCm39) H96Q probably damaging Het
Col11a1 T A 3: 114,010,859 (GRCm39) probably null Het
Col12a1 A T 9: 79,585,665 (GRCm39) probably null Het
Col22a1 G A 15: 71,679,777 (GRCm39) P877S unknown Het
Col7a1 A T 9: 108,797,441 (GRCm39) N1681Y probably null Het
Dennd1b T G 1: 139,067,130 (GRCm39) S398A possibly damaging Het
Fgd2 C T 17: 29,580,135 (GRCm39) probably benign Het
Hadh T C 3: 131,042,192 (GRCm39) S98G probably benign Het
Has2 C T 15: 56,531,656 (GRCm39) R353H probably damaging Het
Heg1 T C 16: 33,547,783 (GRCm39) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm39) R43* probably null Het
Htr4 A T 18: 62,570,692 (GRCm39) H249L possibly damaging Het
Hycc2 A G 1: 58,569,076 (GRCm39) L501P probably damaging Het
Iqgap3 T C 3: 88,022,281 (GRCm39) S495P probably benign Het
Kars1 T C 8: 112,732,271 (GRCm39) D99G probably benign Het
Krt40 T A 11: 99,428,394 (GRCm39) S333C probably damaging Het
Lamc2 T C 1: 152,999,871 (GRCm39) I1163V probably damaging Het
Lrrn2 A T 1: 132,866,065 (GRCm39) I377F possibly damaging Het
Mcm5 T A 8: 75,842,530 (GRCm39) I268N probably damaging Het
Mmp21 G T 7: 133,276,300 (GRCm39) H514Q probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Mybbp1a A G 11: 72,336,492 (GRCm39) T495A possibly damaging Het
Myo10 T A 15: 25,701,688 (GRCm39) V21E probably damaging Het
Nap1l4 A G 7: 143,091,982 (GRCm39) S49P probably benign Het
Ncoa2 G A 1: 13,247,316 (GRCm39) S369F probably damaging Het
Niban2 A C 2: 32,812,109 (GRCm39) Y397S probably benign Het
Or5g9 A T 2: 85,552,675 (GRCm39) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm39) probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,368,957 (GRCm39) R643L probably damaging Het
Ptprq T A 10: 107,524,368 (GRCm39) Y455F probably benign Het
Sec23b G A 2: 144,408,679 (GRCm39) probably benign Het
Sh3pxd2a A G 19: 47,256,465 (GRCm39) L751P probably damaging Het
Snx6 T A 12: 54,830,228 (GRCm39) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm39) C3472F possibly damaging Het
Trpd52l3 A T 19: 29,981,396 (GRCm39) E50D probably damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Tubgcp3 A T 8: 12,699,797 (GRCm39) V352E probably benign Het
Tulp2 T G 7: 45,171,734 (GRCm39) F436C probably damaging Het
Vmn1r123 T A 7: 20,896,282 (GRCm39) M58K possibly damaging Het
Vmn2r113 T C 17: 23,174,931 (GRCm39) V514A probably benign Het
Vps13c T C 9: 67,862,329 (GRCm39) V2982A probably benign Het
Ywhaq T C 12: 21,445,001 (GRCm39) T215A possibly damaging Het
Zfp677 A T 17: 21,617,135 (GRCm39) H64L 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
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
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
Posted On 2016-08-02