Incidental Mutation 'R1735:N4bp2'
ID 199628
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms LOC333789, B3bp, LOC386488
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65920864-65987451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65965659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1236 (F1236S)
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: F1236S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: F1236S

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: F1236S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: F1236S

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 noncoding transcript
Transcript: ENSMUST00000200843
Predicted Effect probably damaging
Transcript: ENSMUST00000201489
AA Change: F1236S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: F1236S

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: F1236S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: F1236S

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
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Cog3 T A 14: 75,966,761 (GRCm39) K470* probably null Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rasal2 T C 1: 157,001,730 (GRCm39) Y518C probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Rtn3 T C 19: 7,435,276 (GRCm39) I220V probably damaging Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Scube1 T C 15: 83,491,638 (GRCm39) H952R probably damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
St3gal3 T C 4: 117,871,971 (GRCm39) Y77C probably damaging Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Xrn2 T A 2: 146,903,343 (GRCm39) L781Q probably damaging Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* probably null 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
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
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'- CCCCAATGCTGCTGTAAAGGTCAAG -3'
(R):5'- AGCTCCAGACAGTCTATGGTCAGAG -3'

Sequencing Primer
(F):5'- GCGCGTACACCTTTAAGCAG -3'
(R):5'- ACAGTCTATGGTCAGAGATGTG -3'
Posted On 2014-05-23