Incidental Mutation 'IGL01788:N4bp1'
ID155139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol N4bp1
Ensembl Gene ENSMUSG00000031652
Gene NameNEDD4 binding protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01788
Quality Score
Status
Chromosome8
Chromosomal Location86808160-86885258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86860996 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 438 (V438E)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
Predicted Effect probably benign
Transcript: ENSMUST00000034074
AA Change: V438E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: V438E

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
low complexity region 375 390 N/A INTRINSIC
low complexity region 548 571 N/A INTRINSIC
Pfam:RNase_Zc3h12a 614 767 4.7e-59 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 51,091,715 noncoding transcript Het
Acp6 A G 3: 97,165,882 T80A probably damaging Het
Adamtsl5 T C 10: 80,344,923 T102A probably benign Het
Adcy6 C A 15: 98,596,519 E812* probably null Het
Apol6 G A 15: 77,051,016 V162I possibly damaging Het
Atp6v1h T A 1: 5,149,983 M396K possibly damaging Het
B3gnt8 A G 7: 25,629,188 T348A probably damaging Het
Cgnl1 A G 9: 71,655,390 V869A probably benign Het
Dcaf5 A T 12: 80,348,324 I357N probably damaging Het
Dennd4a A G 9: 64,842,621 I165V probably benign Het
Dlgap2 T A 8: 14,843,631 I982K probably benign Het
Dopey1 A T 9: 86,531,719 H1891L probably benign Het
Fhad1 A C 4: 141,932,802 S65R probably benign Het
Fn1 A G 1: 71,613,837 I1331T probably damaging Het
Fto A T 8: 91,409,731 Y211F probably benign Het
Gm3278 A C 14: 4,893,332 R60S probably benign Het
Ifna9 A G 4: 88,591,860 S176P probably damaging Het
Klk1 T C 7: 44,228,983 I189T probably benign Het
Mcph1 G A 8: 18,632,403 G519R probably damaging Het
Mcph1 G A 8: 18,632,404 G519E probably damaging Het
Ncapg T A 5: 45,671,081 V58E probably damaging Het
Nid2 T A 14: 19,807,979 S1054T probably damaging Het
Nlrp4a A T 7: 26,454,067 Y681F probably benign Het
Olfr1308 T C 2: 111,961,007 D22G probably benign Het
Olfr1442 G A 19: 12,675,078 R291K probably damaging Het
Olfr603 C A 7: 103,383,563 M146I probably benign Het
Olfr726 A G 14: 50,084,502 Y60H probably damaging Het
Papln A T 12: 83,775,462 T364S probably benign Het
Pcdh18 C A 3: 49,755,922 E315* probably null Het
Pmel G A 10: 128,717,832 R445Q probably damaging Het
Ppp1r12b C T 1: 134,893,507 V182I possibly damaging Het
Ptprn2 A G 12: 116,900,987 T541A probably damaging Het
Rbl1 A T 2: 157,163,656 N813K probably benign Het
Sash1 C A 10: 8,733,646 R713L probably benign Het
Slc13a1 T G 6: 24,134,372 T171P probably damaging Het
Slc18b1 G T 10: 23,826,001 E407D probably damaging Het
Slc2a6 G A 2: 27,024,215 Q297* probably null Het
Vmn1r209 T C 13: 22,805,662 H286R probably damaging Het
Vmn1r28 C A 6: 58,265,537 H122N probably benign Het
Wfs1 A G 5: 36,968,636 Y304H probably benign Het
Zfp512b A G 2: 181,588,763 S445P possibly damaging Het
Other mutations in N4bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:N4bp1 APN 8 86861726 missense probably benign 0.01
IGL00659:N4bp1 APN 8 86861802 missense probably damaging 1.00
IGL01484:N4bp1 APN 8 86844772 missense probably damaging 0.99
IGL01989:N4bp1 APN 8 86848487 missense probably damaging 1.00
IGL02619:N4bp1 APN 8 86860901 missense probably benign 0.01
IGL03290:N4bp1 APN 8 86848533 missense probably benign 0.31
Acorn UTSW 8 86861906 nonsense probably null
oak UTSW 8 86861796 nonsense probably null
Squirrel UTSW 8 86851709 missense probably damaging 1.00
Stash UTSW 8 86860424 critical splice donor site probably null
walnut UTSW 8 86846912 missense probably damaging 1.00
winter UTSW 8 86861683 missense probably benign
R0760:N4bp1 UTSW 8 86846912 missense probably damaging 1.00
R1202:N4bp1 UTSW 8 86844887 missense probably benign 0.02
R1653:N4bp1 UTSW 8 86844948 missense probably benign 0.10
R1878:N4bp1 UTSW 8 86861541 missense probably damaging 0.98
R2325:N4bp1 UTSW 8 86848460 missense probably damaging 1.00
R2442:N4bp1 UTSW 8 86862040 missense probably damaging 1.00
R2867:N4bp1 UTSW 8 86861405 missense probably benign 0.02
R2867:N4bp1 UTSW 8 86861405 missense probably benign 0.02
R2926:N4bp1 UTSW 8 86861796 nonsense probably null
R3625:N4bp1 UTSW 8 86851709 missense probably damaging 1.00
R3689:N4bp1 UTSW 8 86860556 missense probably damaging 1.00
R3863:N4bp1 UTSW 8 86860427 missense probably benign 0.13
R4872:N4bp1 UTSW 8 86861048 missense probably benign 0.01
R4902:N4bp1 UTSW 8 86861683 missense probably benign
R4965:N4bp1 UTSW 8 86851686 missense possibly damaging 0.69
R5070:N4bp1 UTSW 8 86860537 missense probably damaging 0.98
R5392:N4bp1 UTSW 8 86860420 splice site probably null
R5719:N4bp1 UTSW 8 86851684 missense probably damaging 1.00
R6280:N4bp1 UTSW 8 86853166 missense possibly damaging 0.68
R6292:N4bp1 UTSW 8 86853239 missense probably damaging 0.99
R6350:N4bp1 UTSW 8 86861968 missense probably damaging 0.99
R6543:N4bp1 UTSW 8 86861906 nonsense probably null
R6965:N4bp1 UTSW 8 86844833 missense probably damaging 1.00
R7120:N4bp1 UTSW 8 86860867 missense probably benign 0.01
R7172:N4bp1 UTSW 8 86860424 critical splice donor site probably null
X0067:N4bp1 UTSW 8 86861920 missense probably damaging 1.00
Posted On2014-02-04