Incidental Mutation 'IGL01567:Bpifb4'
ID91028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb4
Ensembl Gene ENSMUSG00000074665
Gene NameBPI fold containing family B, member 4
SynonymsLOC381399, Gm1006
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01567
Quality Score
Status
Chromosome2
Chromosomal Location153938212-153964101 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 153947278 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]
Predicted Effect probably benign
Transcript: ENSMUST00000099181
SMART Domains Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665

DomainStartEndE-ValueType
BPI1 2 177 3.47e-25 SMART
BPI2 201 403 3.62e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109757
SMART Domains Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665

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 benign
Transcript: ENSMUST00000109759
SMART Domains Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign Het
Other mutations in Bpifb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Bpifb4 APN 2 153942681 missense possibly damaging 0.96
IGL01653:Bpifb4 APN 2 153944783 missense probably damaging 1.00
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
X0018:Bpifb4 UTSW 2 153944061 missense probably damaging 1.00
Posted On2013-12-09