Incidental Mutation 'R5554:N4bp2'
ID 435279
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 043111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R5554 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65965457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1169 (Y1169H)
Ref Sequence ENSEMBL: ENSMUSP00000144278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000201489] [ENSMUST00000201615]
AlphaFold F8VQG7
Predicted Effect probably benign
Transcript: ENSMUST00000087264
AA Change: Y1169H

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: Y1169H

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 noncoding transcript
Transcript: ENSMUST00000200843
Predicted Effect probably benign
Transcript: ENSMUST00000201489
AA Change: Y1169H

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: Y1169H

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 benign
Transcript: ENSMUST00000201615
AA Change: Y1169H

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: Y1169H

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: ENSMUST00000202411
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (73/75)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,304,807 (GRCm39) R227L probably benign Het
Adamtsl1 A G 4: 86,195,182 (GRCm39) Q533R possibly damaging Het
Adgb C T 10: 10,216,217 (GRCm39) R1524H probably damaging Het
Ank2 A T 3: 126,792,622 (GRCm39) N739K possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Anxa10 G A 8: 62,514,080 (GRCm39) P249L possibly damaging Het
Banp G A 8: 122,718,334 (GRCm39) E183K probably damaging Het
BC051665 C G 13: 60,932,435 (GRCm39) L83F probably damaging Het
Btn1a1 A T 13: 23,643,295 (GRCm39) F385I possibly damaging Het
Chchd4 A T 6: 91,441,999 (GRCm39) *140R probably null Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dlx2 G A 2: 71,375,805 (GRCm39) R173C possibly damaging Het
Dmbt1 C A 7: 130,701,030 (GRCm39) Y1069* probably null Het
Dop1a T A 9: 86,403,710 (GRCm39) F1637I probably damaging Het
Dusp18 T C 11: 3,847,202 (GRCm39) I64T probably damaging Het
Evi5l A G 8: 4,256,491 (GRCm39) probably benign Het
Fiz1 T C 7: 5,015,849 (GRCm39) H47R probably damaging Het
Fndc3b G T 3: 27,697,162 (GRCm39) P17T possibly damaging Het
Foxa1 T A 12: 57,589,077 (GRCm39) Q381L probably benign Het
Gda A G 19: 21,405,837 (GRCm39) probably null Het
Gm10044 T C 14: 7,771,181 (GRCm38) noncoding transcript Het
Gm12258 T A 11: 58,749,294 (GRCm39) S156R possibly damaging Het
Gm973 A G 1: 59,566,131 (GRCm39) R117G probably benign Het
Grwd1 C T 7: 45,480,064 (GRCm39) V48I probably damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Inka2 T A 3: 105,623,930 (GRCm39) S82R possibly damaging Het
Itga1 A T 13: 115,129,010 (GRCm39) C549* probably null Het
Kmt2c C A 5: 25,499,608 (GRCm39) G511C probably damaging Het
Knstrn T C 2: 118,664,444 (GRCm39) probably benign Het
Lrp2 T C 2: 69,382,768 (GRCm39) Y39C possibly damaging Het
Maco1 T C 4: 134,555,445 (GRCm39) I343V probably benign Het
Micos10 T C 4: 138,833,218 (GRCm39) probably benign Het
Nbr1 C T 11: 101,455,633 (GRCm39) T129I probably benign Het
Or52e8 A C 7: 104,625,189 (GRCm39) M1R probably null Het
Or5k15 A T 16: 58,710,169 (GRCm39) M138K possibly damaging Het
Or7g25 T C 9: 19,160,039 (GRCm39) I219V probably benign Het
Oxct1 T A 15: 4,120,677 (GRCm39) F254I probably benign Het
Patj T A 4: 98,342,633 (GRCm39) S576T possibly damaging Het
Pdxdc1 A T 16: 13,690,363 (GRCm39) C202S probably benign Het
Pet100 A T 8: 3,672,381 (GRCm39) I19F probably damaging Het
Pik3r5 T C 11: 68,385,059 (GRCm39) Y655H probably damaging Het
Pkhd1 A G 1: 20,151,476 (GRCm39) S3807P probably damaging Het
Ptma A G 1: 86,454,649 (GRCm39) T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 (GRCm39) N257K probably damaging Het
R3hdm1 C A 1: 128,164,409 (GRCm39) Q1108K probably benign Het
Rimbp2 T C 5: 128,857,406 (GRCm39) D815G probably damaging Het
Scn10a A G 9: 119,523,196 (GRCm39) F66L probably benign Het
Selenot T C 3: 58,484,296 (GRCm39) probably null Het
Serpinb8 A G 1: 107,526,705 (GRCm39) T82A probably benign Het
Serpini2 G A 3: 75,175,295 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,631,816 (GRCm39) G214V probably benign Het
Slc5a6 C A 5: 31,195,444 (GRCm39) A425S probably damaging Het
Smo C A 6: 29,736,123 (GRCm39) N38K possibly damaging Het
Smtn A T 11: 3,470,811 (GRCm39) C909* probably null Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Stk4 T A 2: 163,941,645 (GRCm39) V287E probably benign Het
Tdrd7 A G 4: 46,005,358 (GRCm39) D388G possibly damaging Het
Ttn A T 2: 76,642,652 (GRCm39) F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 (GRCm39) F84V probably damaging Het
Ugt3a1 A G 15: 9,370,287 (GRCm39) Q477R probably damaging Het
Utf1 T C 7: 139,523,859 (GRCm39) S25P probably benign Het
Vmn1r184 A T 7: 25,966,413 (GRCm39) H53L probably damaging Het
Vmn2r13 A T 5: 109,339,860 (GRCm39) N38K possibly damaging Het
Vps13a C T 19: 16,699,775 (GRCm39) D756N probably damaging Het
Vwa1 G T 4: 155,857,695 (GRCm39) D34E probably damaging Het
Zfhx2 A C 14: 55,301,774 (GRCm39) L2070R probably damaging Het
Zfp984 A G 4: 147,840,362 (GRCm39) V163A probably benign Het
Zp3r A T 1: 130,511,208 (GRCm39) M325K probably benign 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
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
R6767:N4bp2 UTSW 5 65,974,530 (GRCm39) missense probably damaging 1.00
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'- TATCCGGAACACCAGTGCAC -3'
(R):5'- ACCAACCACTTCCTGGCATTAG -3'

Sequencing Primer
(F):5'- AACACCAGTGCACGGTCTG -3'
(R):5'- AACCACTTCCTGGCATTAGATTTTTC -3'
Posted On 2016-10-24