Incidental Mutation 'IGL01484:N4bp1'
ID88854
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 #IGL01484
Quality Score
Status
Chromosome8
Chromosomal Location86808160-86885258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86844772 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 866 (E866G)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
Predicted Effect probably damaging
Transcript: ENSMUST00000034074
AA Change: E866G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: E866G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210029
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D 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
IGL01788:N4bp1 APN 8 86860996 missense probably benign 0.06
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
R7791:N4bp1 UTSW 8 86853203 missense probably damaging 0.99
R8084:N4bp1 UTSW 8 86861008 missense probably benign 0.28
R8220:N4bp1 UTSW 8 86844687 makesense probably null
R8523:N4bp1 UTSW 8 86853161 missense probably damaging 1.00
R8753:N4bp1 UTSW 8 86848457 missense probably damaging 1.00
X0067:N4bp1 UTSW 8 86861920 missense probably damaging 1.00
Z1177:N4bp1 UTSW 8 86853159 nonsense probably null
Posted On2013-11-18