Incidental Mutation 'R7177:N4bp2'
ID 558672
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 045268-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R7177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65964891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 980 (V980A)
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: V980A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: V980A

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: V980A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: V980A

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: V980A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: V980A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,325,685 (GRCm39) L74S probably damaging Het
5730409E04Rik A G 4: 126,505,525 (GRCm39) S18G probably benign Het
Adam29 A G 8: 56,325,659 (GRCm39) I265T probably benign Het
Aff4 C T 11: 53,297,466 (GRCm39) S896L probably benign Het
Ankrd27 T C 7: 35,318,822 (GRCm39) I571T probably damaging Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Carm1 C T 9: 21,458,323 (GRCm39) T7M unknown Het
Ccdc183 A G 2: 25,506,296 (GRCm39) V100A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam2 T G 7: 25,220,341 (GRCm39) D239A probably benign Het
Cfap96 T A 8: 46,423,444 (GRCm39) E89D possibly damaging Het
Cimap1c T A 9: 56,757,262 (GRCm39) M139L possibly damaging Het
Cmya5 T C 13: 93,231,836 (GRCm39) D1084G probably benign Het
Cog5 T A 12: 31,810,888 (GRCm39) I194K probably damaging Het
Col20a1 C T 2: 180,636,007 (GRCm39) Q211* probably null Het
Col9a1 T A 1: 24,234,498 (GRCm39) L13Q unknown Het
Cracr2a A T 6: 127,585,669 (GRCm39) M156L probably benign Het
Cts8 C T 13: 61,399,505 (GRCm39) M151I possibly damaging Het
Cyp2ab1 A T 16: 20,135,469 (GRCm39) L11Q probably null Het
Dhrs13 T A 11: 77,925,208 (GRCm39) C160S probably benign Het
Enthd1 T A 15: 80,358,415 (GRCm39) E368D probably damaging Het
Fbh1 A G 2: 11,760,522 (GRCm39) I676T probably damaging Het
Fcgrt T C 7: 44,751,421 (GRCm39) R176G probably benign Het
Gatd1 A G 7: 140,990,947 (GRCm39) F67L possibly damaging Het
Gm4353 G A 7: 115,683,727 (GRCm39) P23S probably damaging Het
Gm6882 T A 7: 21,161,677 (GRCm39) I64F possibly damaging Het
Grwd1 A T 7: 45,480,204 (GRCm39) M1K probably null Het
Hook2 T A 8: 85,718,046 (GRCm39) S58T probably benign Het
Iqch T G 9: 63,329,117 (GRCm39) *1072C probably null Het
Kmt2d G A 15: 98,748,267 (GRCm39) T3019I unknown Het
Lmx1a T C 1: 167,674,247 (GRCm39) S356P probably benign Het
Lrig3 A G 10: 125,842,712 (GRCm39) M546V probably benign Het
Lrrc1 C A 9: 77,379,504 (GRCm39) E96* probably null Het
Lrtm2 C A 6: 119,294,113 (GRCm39) M339I probably damaging Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Map7d1 A G 4: 126,130,778 (GRCm39) C384R probably damaging Het
Mcur1 T C 13: 43,698,012 (GRCm39) D296G probably damaging Het
Mettl24 A T 10: 40,686,508 (GRCm39) H295L probably damaging Het
Mgat4f T C 1: 134,318,163 (GRCm39) S312P probably benign Het
Mpl A G 4: 118,305,741 (GRCm39) probably null Het
Mrps5 T C 2: 127,437,617 (GRCm39) V148A probably benign Het
Ncaph A T 2: 126,958,506 (GRCm39) D504E probably damaging Het
Nxph1 A G 6: 9,247,497 (GRCm39) N156S probably damaging Het
Or2t26 T A 11: 49,040,012 (GRCm39) C309* probably null Het
Or4f14b T A 2: 111,775,501 (GRCm39) Q100L probably damaging Het
Pafah1b3 T A 7: 24,994,657 (GRCm39) I186L probably benign Het
Papola C A 12: 105,775,790 (GRCm39) N235K possibly damaging Het
Pcnx3 A T 19: 5,737,527 (GRCm39) M98K probably benign Het
Pip4p1 A C 14: 51,167,634 (GRCm39) M104R possibly damaging Het
Pkhd1l1 A G 15: 44,330,800 (GRCm39) N125S probably damaging Het
Pls1 T A 9: 95,655,612 (GRCm39) H380L probably benign Het
Plxna1 T C 6: 89,300,311 (GRCm39) T1591A possibly damaging Het
Pparg T G 6: 115,418,581 (GRCm39) S147A probably benign Het
Prdm10 T C 9: 31,279,003 (GRCm39) S1025P probably benign Het
Prkcd T A 14: 30,321,664 (GRCm39) H510L probably damaging Het
Ptprh T A 7: 4,572,480 (GRCm39) E499D possibly damaging Het
Rad51ap1 A G 6: 126,901,983 (GRCm39) S256P probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Rnf207 A G 4: 152,396,634 (GRCm39) I459T probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Ryr3 A T 2: 112,731,188 (GRCm39) D727E probably damaging Het
Sdk2 C T 11: 113,720,795 (GRCm39) R1378H possibly damaging Het
Slc7a11 A G 3: 50,397,680 (GRCm39) S11P probably benign Het
Sox4 A G 13: 29,137,000 (GRCm39) V2A probably damaging Het
Srf A G 17: 46,866,318 (GRCm39) F146S probably damaging Het
Srrm2 T C 17: 24,035,747 (GRCm39) V797A unknown Het
Stk32c T C 7: 138,684,218 (GRCm39) D463G possibly damaging Het
Syne2 C A 12: 76,018,654 (GRCm39) Y3384* probably null Het
Tektl1 T C 10: 78,588,324 (GRCm39) D162G probably damaging Het
Traip T A 9: 107,838,184 (GRCm39) M139K possibly damaging Het
Trappc2l T A 8: 123,341,051 (GRCm39) F100Y probably damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Uty A G Y: 1,099,691 (GRCm39) V1168A probably benign Het
Vmn2r25 T C 6: 123,816,882 (GRCm39) D233G possibly damaging Het
Zdbf2 C T 1: 63,334,120 (GRCm39) R31C possibly 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
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
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'- GATACAGGCACTTGTACCCAGAC -3'
(R):5'- AACCTGTGACTCGCTGTACG -3'

Sequencing Primer
(F):5'- GACTGAACCCCAAGATTTTGCTC -3'
(R):5'- GCAGTGTCCTCGCACAGTTTAG -3'
Posted On 2019-06-26