Incidental Mutation 'IGL01621:N4bp2'
ID 92560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms B3bp, LOC333789, LOC386488
Accession Numbers

Genbank: NM_001024917.1; Ensembl: ENSMUST00000113738

Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL01621
Quality Score
Status
Chromosome 5
Chromosomal Location 65763521-65830108 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65790924 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 299 (H299L)
Ref Sequence ENSEMBL: ENSMUSP00000144278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000201489] [ENSMUST00000201615]
AlphaFold F8VQG7
Predicted Effect probably damaging
Transcript: ENSMUST00000087264
AA Change: H299L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: H299L

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1.1e-15 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 1e-9 BLAST
low complexity region 1496 1511 N/A INTRINSIC
DUF1771 1526 1591 1.88e-21 SMART
SMR 1596 1678 1.09e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113738
AA Change: H299L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: H299L

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1e-14 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 1e-9 BLAST
low complexity region 1496 1511 N/A INTRINSIC
DUF1771 1526 1591 1.88e-21 SMART
SMR 1596 1678 1.09e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201489
AA Change: H299L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: H299L

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1e-14 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 1e-9 BLAST
low complexity region 1496 1511 N/A INTRINSIC
DUF1771 1526 1591 1.88e-21 SMART
SMR 1596 1678 1.09e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201615
AA Change: H299L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: H299L

DomainStartEndE-ValueType
low complexity region 109 130 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
Pfam:AAA_33 365 499 1.2e-14 PFAM
low complexity region 533 546 N/A INTRINSIC
low complexity region 619 629 N/A INTRINSIC
low complexity region 681 692 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 1079 1090 N/A INTRINSIC
Blast:CUE 1430 1472 8e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202934
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI

All alleles(9) : Targeted, other(2) Gene trapped(7)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C probably damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S probably damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in N4bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:N4bp2 APN 5 65807524 missense probably damaging 0.96
IGL01503:N4bp2 APN 5 65803547 nonsense probably null 0.00
IGL02109:N4bp2 APN 5 65798134 missense probably damaging 1.00
IGL02286:N4bp2 APN 5 65803552 missense probably damaging 1.00
1mM(1):N4bp2 UTSW 5 65807677 missense probably damaging 1.00
IGL03046:N4bp2 UTSW 5 65790960 missense probably damaging 1.00
R0164:N4bp2 UTSW 5 65803573 splice site probably benign
R0285:N4bp2 UTSW 5 65806559 missense probably benign 0.00
R0366:N4bp2 UTSW 5 65806396 missense possibly damaging 0.95
R0548:N4bp2 UTSW 5 65808153 missense probably benign 0.39
R0551:N4bp2 UTSW 5 65820341 splice site probably null
R0671:N4bp2 UTSW 5 65807437 missense probably damaging 0.99
R1136:N4bp2 UTSW 5 65808472 missense probably damaging 1.00
R1515:N4bp2 UTSW 5 65790498 missense probably benign 0.01
R1597:N4bp2 UTSW 5 65807140 missense probably benign 0.45
R1628:N4bp2 UTSW 5 65803572 splice site probably null
R1722:N4bp2 UTSW 5 65806882 missense probably benign 0.08
R1735:N4bp2 UTSW 5 65808316 missense probably damaging 1.00
R1745:N4bp2 UTSW 5 65790822 missense probably benign 0.12
R1759:N4bp2 UTSW 5 65826613 missense probably damaging 1.00
R1799:N4bp2 UTSW 5 65806825 missense possibly damaging 0.62
R1846:N4bp2 UTSW 5 65808519 missense probably damaging 1.00
R1872:N4bp2 UTSW 5 65794518 splice site probably benign
R2042:N4bp2 UTSW 5 65826621 missense probably damaging 1.00
R2082:N4bp2 UTSW 5 65807565 missense probably damaging 1.00
R2101:N4bp2 UTSW 5 65790881 missense probably damaging 1.00
R2147:N4bp2 UTSW 5 65809200 missense probably damaging 1.00
R2251:N4bp2 UTSW 5 65806728 missense probably damaging 1.00
R2507:N4bp2 UTSW 5 65790061 missense probably benign 0.01
R2508:N4bp2 UTSW 5 65790061 missense probably benign 0.01
R2919:N4bp2 UTSW 5 65807098 missense probably benign 0.22
R3086:N4bp2 UTSW 5 65791053 missense probably damaging 1.00
R4092:N4bp2 UTSW 5 65790456 missense probably benign 0.02
R4177:N4bp2 UTSW 5 65798170 splice site probably null
R4718:N4bp2 UTSW 5 65803463 missense probably damaging 1.00
R4859:N4bp2 UTSW 5 65825298 missense probably damaging 1.00
R4863:N4bp2 UTSW 5 65808130 missense probably benign 0.22
R4915:N4bp2 UTSW 5 65803504 missense probably damaging 1.00
R4949:N4bp2 UTSW 5 65821799 splice site probably null
R4978:N4bp2 UTSW 5 65790240 missense probably damaging 1.00
R5029:N4bp2 UTSW 5 65814780 missense probably damaging 1.00
R5079:N4bp2 UTSW 5 65811977 missense probably damaging 1.00
R5097:N4bp2 UTSW 5 65817218 missense probably damaging 1.00
R5158:N4bp2 UTSW 5 65808462 missense probably damaging 0.99
R5228:N4bp2 UTSW 5 65807518 missense probably benign
R5322:N4bp2 UTSW 5 65790457 missense possibly damaging 0.76
R5554:N4bp2 UTSW 5 65808114 missense probably benign 0.44
R5731:N4bp2 UTSW 5 65809157 missense probably damaging 1.00
R5840:N4bp2 UTSW 5 65808094 missense probably damaging 0.99
R6393:N4bp2 UTSW 5 65791001 missense possibly damaging 0.81
R6767:N4bp2 UTSW 5 65817187 missense probably damaging 1.00
R7103:N4bp2 UTSW 5 65806846 missense probably benign 0.01
R7112:N4bp2 UTSW 5 65790707 missense possibly damaging 0.74
R7171:N4bp2 UTSW 5 65808022 missense probably benign 0.00
R7177:N4bp2 UTSW 5 65807548 missense probably damaging 1.00
R7240:N4bp2 UTSW 5 65794545 missense probably damaging 0.96
R7353:N4bp2 UTSW 5 65806371 missense probably benign 0.01
R7450:N4bp2 UTSW 5 65825300 nonsense probably null
R7560:N4bp2 UTSW 5 65791115 missense probably damaging 0.99
R7698:N4bp2 UTSW 5 65808157 missense probably benign 0.00
R7743:N4bp2 UTSW 5 65808459 missense probably damaging 1.00
R7871:N4bp2 UTSW 5 65807103 missense probably benign 0.00
R7981:N4bp2 UTSW 5 65812142 missense probably benign 0.41
R8065:N4bp2 UTSW 5 65807296 missense probably damaging 0.99
R8067:N4bp2 UTSW 5 65807296 missense probably damaging 0.99
R8164:N4bp2 UTSW 5 65809223 missense probably damaging 1.00
R8166:N4bp2 UTSW 5 65820312 missense probably benign 0.39
R8331:N4bp2 UTSW 5 65807600 missense probably damaging 1.00
R8559:N4bp2 UTSW 5 65825285 missense possibly damaging 0.62
R8806:N4bp2 UTSW 5 65808208 missense possibly damaging 0.63
R9287:N4bp2 UTSW 5 65803512 missense probably benign 0.38
R9369:N4bp2 UTSW 5 65806916 missense probably damaging 0.97
Z1177:N4bp2 UTSW 5 65807637 missense probably damaging 1.00
Posted On 2013-12-09