Incidental Mutation 'R6767:N4bp2'
ID 531966
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 044883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R6767 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65974530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1467 (F1467L)
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: F1467L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: F1467L

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: ENSMUST00000201489
AA Change: F1467L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: F1467L

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: F1467L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: F1467L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G A 8: 44,079,951 (GRCm39) T91I probably damaging Het
Ak7 A G 12: 105,732,866 (GRCm39) N537D probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Atp8a2 A G 14: 60,284,171 (GRCm39) F47S probably damaging Het
Cadps T A 14: 12,550,888 (GRCm38) T449S probably damaging Het
Ccdc33 C G 9: 57,940,527 (GRCm39) Q489H possibly damaging Het
Cd163 T G 6: 124,281,738 (GRCm39) S14A possibly damaging Het
Cemip G A 7: 83,647,832 (GRCm39) L83F probably damaging Het
Chrd C T 16: 20,557,376 (GRCm39) P665L probably benign Het
Cib4 T A 5: 30,691,589 (GRCm39) H44L probably benign Het
Clic1 T A 17: 35,272,029 (GRCm39) L99Q probably benign Het
Cnst C T 1: 179,437,519 (GRCm39) T361I possibly damaging Het
Dnah6 C A 6: 73,110,591 (GRCm39) V1613L probably benign Het
Dnajb8 T C 6: 88,199,634 (GRCm39) S57P probably damaging Het
Dyrk3 T C 1: 131,057,327 (GRCm39) H282R probably damaging Het
Fasn T C 11: 120,708,313 (GRCm39) I651V possibly damaging Het
Gas6 A G 8: 13,515,784 (GRCm39) S663P probably damaging Het
Gbp8 T C 5: 105,166,478 (GRCm39) M284V probably benign Het
Gm12695 T C 4: 96,650,933 (GRCm39) probably null Het
Gm6034 T A 17: 36,354,023 (GRCm39) M1K probably null Het
Gm9376 A G 14: 118,504,648 (GRCm39) T27A unknown Het
Grid2 A G 6: 63,907,999 (GRCm39) D213G probably benign Het
Gsdma3 A T 11: 98,528,710 (GRCm39) D388V possibly damaging Het
H4c2 T A 13: 23,941,005 (GRCm39) M1K probably null Het
Hdac9 T A 12: 34,337,528 (GRCm39) H716L probably damaging Het
Hivep1 T C 13: 42,308,203 (GRCm39) S148P probably damaging Het
Kctd1 T C 18: 15,195,232 (GRCm39) T464A possibly damaging Het
Kera A G 10: 97,445,034 (GRCm39) D131G possibly damaging Het
Kif2c C T 4: 117,035,385 (GRCm39) R21Q probably benign Het
Luc7l3 G T 11: 94,183,779 (GRCm39) D453E probably damaging Het
Mrpl9 A G 3: 94,357,528 (GRCm39) probably benign Het
Mtss1 T C 15: 58,825,430 (GRCm39) S257G probably benign Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Nrg1 T C 8: 32,407,923 (GRCm39) I103M probably damaging Het
Or2w1b C T 13: 21,300,227 (GRCm39) R122C probably benign Het
Orm3 C T 4: 63,274,531 (GRCm39) T32I probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Plch1 A T 3: 63,662,765 (GRCm39) M246K probably damaging Het
Pld4 A C 12: 112,730,549 (GRCm39) D144A possibly damaging Het
Prelp C A 1: 133,840,448 (GRCm39) V345L probably benign Het
Rnf121 A G 7: 101,672,619 (GRCm39) F238L probably damaging Het
Rnf40 A G 7: 127,195,757 (GRCm39) K667R possibly damaging Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Serpina3n T G 12: 104,375,321 (GRCm39) V131G probably benign Het
Slc22a21 T C 11: 53,870,328 (GRCm39) Y119C probably damaging Het
Slc22a28 A G 19: 8,094,409 (GRCm39) F204S probably damaging Het
Smc6 T A 12: 11,321,821 (GRCm39) D29E possibly damaging Het
Smgc T A 15: 91,725,601 (GRCm39) F40Y possibly damaging Het
Sorcs3 G T 19: 48,702,010 (GRCm39) L630F probably damaging Het
Sphk1 A G 11: 116,426,982 (GRCm39) K306E possibly damaging Het
Spmip2 A T 3: 79,337,330 (GRCm39) D46V probably benign Het
Spsb1 C T 4: 149,991,301 (GRCm39) G89D probably damaging Het
Stat4 G T 1: 52,115,742 (GRCm39) M227I probably benign Het
Syngr4 A G 7: 45,536,915 (GRCm39) V116A possibly damaging Het
Tacc1 T C 8: 25,730,816 (GRCm39) M1V probably null Het
Tcf7l1 T G 6: 72,608,275 (GRCm39) K355Q probably damaging Het
Tmem192 T C 8: 65,416,888 (GRCm39) S36P probably damaging Het
Top3a G T 11: 60,641,579 (GRCm39) N368K possibly damaging Het
Tpk1 T A 6: 43,323,727 (GRCm39) I241F possibly damaging Het
Trappc10 A G 10: 78,029,345 (GRCm39) I1064T possibly damaging Het
Vmn1r18 T A 6: 57,367,206 (GRCm39) K116M probably damaging Het
Vmn2r40 A T 7: 8,923,139 (GRCm39) H407Q unknown Het
Vmn2r91 T A 17: 18,327,807 (GRCm39) L467H probably damaging Het
Wdr59 G T 8: 112,202,733 (GRCm39) S603R probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp324 A C 7: 12,704,527 (GRCm39) K74N probably null Het
Zfyve16 A G 13: 92,644,707 (GRCm39) L1165P probably damaging Het
Other mutations in N4bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:N4bp2 APN 5 65,964,867 (GRCm39) missense probably damaging 0.96
IGL01503:N4bp2 APN 5 65,960,890 (GRCm39) nonsense probably null 0.00
IGL01621:N4bp2 APN 5 65,948,267 (GRCm39) missense probably damaging 1.00
IGL02109:N4bp2 APN 5 65,955,477 (GRCm39) missense probably damaging 1.00
IGL02286:N4bp2 APN 5 65,960,895 (GRCm39) missense probably damaging 1.00
1mM(1):N4bp2 UTSW 5 65,965,020 (GRCm39) missense probably damaging 1.00
IGL03046:N4bp2 UTSW 5 65,948,303 (GRCm39) missense probably damaging 1.00
R0164:N4bp2 UTSW 5 65,960,916 (GRCm39) splice site probably benign
R0285:N4bp2 UTSW 5 65,963,902 (GRCm39) missense probably benign 0.00
R0366:N4bp2 UTSW 5 65,963,739 (GRCm39) missense possibly damaging 0.95
R0548:N4bp2 UTSW 5 65,965,496 (GRCm39) missense probably benign 0.39
R0551:N4bp2 UTSW 5 65,977,684 (GRCm39) splice site probably null
R0671:N4bp2 UTSW 5 65,964,780 (GRCm39) missense probably damaging 0.99
R1136:N4bp2 UTSW 5 65,965,815 (GRCm39) missense probably damaging 1.00
R1515:N4bp2 UTSW 5 65,947,841 (GRCm39) missense probably benign 0.01
R1597:N4bp2 UTSW 5 65,964,483 (GRCm39) missense probably benign 0.45
R1628:N4bp2 UTSW 5 65,960,915 (GRCm39) splice site probably null
R1722:N4bp2 UTSW 5 65,964,225 (GRCm39) missense probably benign 0.08
R1735:N4bp2 UTSW 5 65,965,659 (GRCm39) missense probably damaging 1.00
R1745:N4bp2 UTSW 5 65,948,165 (GRCm39) missense probably benign 0.12
R1759:N4bp2 UTSW 5 65,983,956 (GRCm39) missense probably damaging 1.00
R1799:N4bp2 UTSW 5 65,964,168 (GRCm39) missense possibly damaging 0.62
R1846:N4bp2 UTSW 5 65,965,862 (GRCm39) missense probably damaging 1.00
R1872:N4bp2 UTSW 5 65,951,861 (GRCm39) splice site probably benign
R2042:N4bp2 UTSW 5 65,983,964 (GRCm39) missense probably damaging 1.00
R2082:N4bp2 UTSW 5 65,964,908 (GRCm39) missense probably damaging 1.00
R2101:N4bp2 UTSW 5 65,948,224 (GRCm39) missense probably damaging 1.00
R2147:N4bp2 UTSW 5 65,966,543 (GRCm39) missense probably damaging 1.00
R2251:N4bp2 UTSW 5 65,964,071 (GRCm39) missense probably damaging 1.00
R2507:N4bp2 UTSW 5 65,947,404 (GRCm39) missense probably benign 0.01
R2508:N4bp2 UTSW 5 65,947,404 (GRCm39) missense probably benign 0.01
R2919:N4bp2 UTSW 5 65,964,441 (GRCm39) missense probably benign 0.22
R3086:N4bp2 UTSW 5 65,948,396 (GRCm39) missense probably damaging 1.00
R4092:N4bp2 UTSW 5 65,947,799 (GRCm39) missense probably benign 0.02
R4177:N4bp2 UTSW 5 65,955,513 (GRCm39) splice site probably null
R4718:N4bp2 UTSW 5 65,960,806 (GRCm39) missense probably damaging 1.00
R4859:N4bp2 UTSW 5 65,982,641 (GRCm39) missense probably damaging 1.00
R4863:N4bp2 UTSW 5 65,965,473 (GRCm39) missense probably benign 0.22
R4915:N4bp2 UTSW 5 65,960,847 (GRCm39) missense probably damaging 1.00
R4949:N4bp2 UTSW 5 65,979,142 (GRCm39) splice site probably null
R4978:N4bp2 UTSW 5 65,947,583 (GRCm39) missense probably damaging 1.00
R5029:N4bp2 UTSW 5 65,972,123 (GRCm39) missense probably damaging 1.00
R5079:N4bp2 UTSW 5 65,969,320 (GRCm39) missense probably damaging 1.00
R5097:N4bp2 UTSW 5 65,974,561 (GRCm39) missense probably damaging 1.00
R5158:N4bp2 UTSW 5 65,965,805 (GRCm39) missense probably damaging 0.99
R5228:N4bp2 UTSW 5 65,964,861 (GRCm39) missense probably benign
R5322:N4bp2 UTSW 5 65,947,800 (GRCm39) missense possibly damaging 0.76
R5554:N4bp2 UTSW 5 65,965,457 (GRCm39) missense probably benign 0.44
R5731:N4bp2 UTSW 5 65,966,500 (GRCm39) missense probably damaging 1.00
R5840:N4bp2 UTSW 5 65,965,437 (GRCm39) missense probably damaging 0.99
R6393:N4bp2 UTSW 5 65,948,344 (GRCm39) missense possibly damaging 0.81
R7103:N4bp2 UTSW 5 65,964,189 (GRCm39) missense probably benign 0.01
R7112:N4bp2 UTSW 5 65,948,050 (GRCm39) missense possibly damaging 0.74
R7171:N4bp2 UTSW 5 65,965,365 (GRCm39) missense probably benign 0.00
R7177:N4bp2 UTSW 5 65,964,891 (GRCm39) missense probably damaging 1.00
R7240:N4bp2 UTSW 5 65,951,888 (GRCm39) missense probably damaging 0.96
R7353:N4bp2 UTSW 5 65,963,714 (GRCm39) missense probably benign 0.01
R7450:N4bp2 UTSW 5 65,982,643 (GRCm39) nonsense probably null
R7560:N4bp2 UTSW 5 65,948,458 (GRCm39) missense probably damaging 0.99
R7698:N4bp2 UTSW 5 65,965,500 (GRCm39) missense probably benign 0.00
R7743:N4bp2 UTSW 5 65,965,802 (GRCm39) missense probably damaging 1.00
R7871:N4bp2 UTSW 5 65,964,446 (GRCm39) missense probably benign 0.00
R7981:N4bp2 UTSW 5 65,969,485 (GRCm39) missense probably benign 0.41
R8065:N4bp2 UTSW 5 65,964,639 (GRCm39) missense probably damaging 0.99
R8067:N4bp2 UTSW 5 65,964,639 (GRCm39) missense probably damaging 0.99
R8164:N4bp2 UTSW 5 65,966,566 (GRCm39) missense probably damaging 1.00
R8166:N4bp2 UTSW 5 65,977,655 (GRCm39) missense probably benign 0.39
R8331:N4bp2 UTSW 5 65,964,943 (GRCm39) missense probably damaging 1.00
R8559:N4bp2 UTSW 5 65,982,628 (GRCm39) missense possibly damaging 0.62
R8806:N4bp2 UTSW 5 65,965,551 (GRCm39) missense possibly damaging 0.63
R9287:N4bp2 UTSW 5 65,960,855 (GRCm39) missense probably benign 0.38
R9369:N4bp2 UTSW 5 65,964,259 (GRCm39) missense probably damaging 0.97
R9460:N4bp2 UTSW 5 65,963,886 (GRCm39) missense probably benign 0.00
R9462:N4bp2 UTSW 5 65,947,898 (GRCm39) missense probably benign 0.02
R9605:N4bp2 UTSW 5 65,963,879 (GRCm39) missense probably benign 0.02
R9641:N4bp2 UTSW 5 65,948,035 (GRCm39) missense probably benign 0.15
Z1177:N4bp2 UTSW 5 65,964,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCTGGTAACTTTGAGCG -3'
(R):5'- GAAAAGTCTACACAGAATCTACAGG -3'

Sequencing Primer
(F):5'- ACTGGAGTTCCACACAGTTG -3'
(R):5'- CTCAAACTGGTAAAACAATAACCAC -3'
Posted On 2018-08-29