Incidental Mutation 'IGL01653:Bpifb4'
ID 102882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb4
Ensembl Gene ENSMUSG00000074665
Gene Name BPI fold containing family B, member 4
Synonyms LOC381399, Gm1006
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01653
Quality Score
Status
Chromosome 2
Chromosomal Location 153938212-153964101 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153944783 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 285 (D285G)
Ref Sequence ENSEMBL: ENSMUSP00000105381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]
AlphaFold A2BGH0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099181
AA Change: D71G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: D71G

DomainStartEndE-ValueType
BPI1 2 177 3.47e-25 SMART
BPI2 201 403 3.62e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109757
AA Change: D285G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: D285G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 171 391 1.23e-48 SMART
BPI2 415 617 3.62e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109759
AA Change: D285G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: D285G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 171 391 1.23e-48 SMART
BPI2 415 617 3.62e-78 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Bpifb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Bpifb4 APN 2 153947278 splice site probably benign
IGL01641:Bpifb4 APN 2 153942681 missense possibly damaging 0.96
IGL02745:Bpifb4 APN 2 153947221 missense probably damaging 1.00
R0106:Bpifb4 UTSW 2 153940968 missense probably benign 0.02
R0309:Bpifb4 UTSW 2 153959683 missense probably damaging 0.97
R0561:Bpifb4 UTSW 2 153944822 missense probably damaging 1.00
R0601:Bpifb4 UTSW 2 153947283 splice site probably benign
R1937:Bpifb4 UTSW 2 153944076 missense probably damaging 0.98
R2433:Bpifb4 UTSW 2 153959677 missense probably damaging 0.98
R2679:Bpifb4 UTSW 2 153948624 missense probably damaging 0.97
R2896:Bpifb4 UTSW 2 153954437 splice site probably benign
R4701:Bpifb4 UTSW 2 153950385 missense probably damaging 1.00
R4772:Bpifb4 UTSW 2 153942983 missense possibly damaging 0.93
R5403:Bpifb4 UTSW 2 153943992 missense probably damaging 0.99
R5695:Bpifb4 UTSW 2 153942923 missense probably damaging 0.99
R5894:Bpifb4 UTSW 2 153940932 missense possibly damaging 0.49
R6007:Bpifb4 UTSW 2 153942560 missense possibly damaging 0.49
R6302:Bpifb4 UTSW 2 153959667 missense probably benign 0.00
R6351:Bpifb4 UTSW 2 153957134 missense probably damaging 0.96
R6755:Bpifb4 UTSW 2 153957738 missense probably damaging 0.98
R6796:Bpifb4 UTSW 2 153961547 missense probably damaging 1.00
R6932:Bpifb4 UTSW 2 153942627 missense possibly damaging 0.49
R7489:Bpifb4 UTSW 2 153944004 missense probably damaging 1.00
R7986:Bpifb4 UTSW 2 153957730 missense probably benign 0.00
R8826:Bpifb4 UTSW 2 153941897 missense probably benign 0.01
R9019:Bpifb4 UTSW 2 153948687 nonsense probably null
RF061:Bpifb4 UTSW 2 153957128 critical splice acceptor site probably benign
X0018:Bpifb4 UTSW 2 153944061 missense probably damaging 1.00
Z1176:Bpifb4 UTSW 2 153942832 missense probably benign 0.33
Posted On 2014-01-21