Incidental Mutation 'R1735:N4bp2'
ID 199628
Institutional Source Beutler Lab
Gene Symbol N4bp2
Ensembl Gene ENSMUSG00000037795
Gene Name NEDD4 binding protein 2
Synonyms B3bp, LOC333789, LOC386488
MMRRC Submission 039767-MU
Accession Numbers

Genbank: NM_001024917.1; Ensembl: ENSMUST00000113738

Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65763521-65830108 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65808316 bp (GRCm38)
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
9230110C19Rik A C 9: 8,027,265 (GRCm38) S91A probably benign Het
Acot5 A T 12: 84,075,487 (GRCm38) I282F probably benign Het
Adam19 C A 11: 46,138,917 (GRCm38) Q730K probably benign Het
Adgrv1 A G 13: 81,487,947 (GRCm38) V3481A possibly damaging Het
Akr1c20 T C 13: 4,487,208 (GRCm38) D316G probably benign Het
Ap3b1 G A 13: 94,493,717 (GRCm38) V827I unknown Het
Aph1a T A 3: 95,895,509 (GRCm38) D140E probably damaging Het
Arhgef19 G T 4: 141,249,618 (GRCm38) V502L possibly damaging Het
Arl9 T C 5: 77,006,626 (GRCm38) F67S probably damaging Het
B430305J03Rik G A 3: 61,363,940 (GRCm38) probably benign Het
B4galnt2 A G 11: 95,890,983 (GRCm38) F119L probably damaging Het
Bcap29 T A 12: 31,630,840 (GRCm38) N49I probably damaging Het
C77080 G T 4: 129,223,577 (GRCm38) S476R probably damaging Het
Capn11 T A 17: 45,632,401 (GRCm38) K616* probably null Het
Cdh12 T A 15: 21,520,366 (GRCm38) Y306N probably damaging Het
Cep350 T A 1: 155,953,214 (GRCm38) N315Y probably damaging Het
Cited2 C A 10: 17,724,046 (GRCm38) P34Q probably damaging Het
Cmya5 A T 13: 93,089,789 (GRCm38) D2930E probably benign Het
Cog3 T A 14: 75,729,321 (GRCm38) K470* probably null Het
Commd10 A G 18: 46,990,485 (GRCm38) T136A probably benign Het
Csf2ra C A 19: 61,226,344 (GRCm38) D181Y probably damaging Het
Csmd1 T A 8: 15,932,610 (GRCm38) I2686F probably damaging Het
Dhx29 T C 13: 112,945,086 (GRCm38) S415P probably benign Het
Dsel A T 1: 111,860,915 (GRCm38) F630Y probably damaging Het
Ell T A 8: 70,578,940 (GRCm38) I96N possibly damaging Het
Ephx2 T A 14: 66,088,303 (GRCm38) I358L probably benign Het
Fam162b A G 10: 51,587,211 (GRCm38) I120T probably damaging Het
Fam187a T C 11: 102,885,780 (GRCm38) Y137H probably damaging Het
Fastk T C 5: 24,441,803 (GRCm38) E403G probably damaging Het
Fcrlb C A 1: 170,907,332 (GRCm38) V409F probably benign Het
Flot2 G T 11: 78,058,005 (GRCm38) A269S probably benign Het
Gpd2 T A 2: 57,355,551 (GRCm38) N419K probably damaging Het
Hecw1 A T 13: 14,377,765 (GRCm38) M61K probably null Het
Htr2a T C 14: 74,706,128 (GRCm38) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,350,965 (GRCm38) T125A probably benign Het
Klhl40 T C 9: 121,779,938 (GRCm38) S390P probably benign Het
Lonp1 G A 17: 56,614,956 (GRCm38) T808I probably damaging Het
Loxhd1 A C 18: 77,404,889 (GRCm38) D1342A probably damaging Het
Lrat T C 3: 82,897,110 (GRCm38) I187V probably benign Het
Lrif1 T C 3: 106,735,846 (GRCm38) *238Q probably null Het
Lrp2bp T C 8: 46,011,988 (GRCm38) F48S probably benign Het
Mafg A G 11: 120,629,678 (GRCm38) M32T possibly damaging Het
Map4 C T 9: 110,034,955 (GRCm38) T416I probably benign Het
Nfatc3 A G 8: 106,083,834 (GRCm38) D414G probably damaging Het
Nrip2 T G 6: 128,405,074 (GRCm38) V50G probably damaging Het
Olfr1449 T A 19: 12,934,843 (GRCm38) I35N probably damaging Het
Olfr16 A G 1: 172,956,807 (GRCm38) N4S probably benign Het
Olfr432 A T 1: 174,050,799 (GRCm38) K142I probably benign Het
Olfr608 T A 7: 103,470,146 (GRCm38) F36I possibly damaging Het
Pcdhb18 A T 18: 37,490,769 (GRCm38) H384L probably benign Het
Pik3r1 A T 13: 101,686,374 (GRCm38) Y607N probably damaging Het
Plagl2 G A 2: 153,232,477 (GRCm38) T168I probably damaging Het
Polr2a A G 11: 69,742,396 (GRCm38) S912P probably damaging Het
Ppp1r16b A G 2: 158,761,495 (GRCm38) K447E possibly damaging Het
Prkd1 T C 12: 50,342,039 (GRCm38) E907G possibly damaging Het
Rabep2 A G 7: 126,444,540 (GRCm38) R470G probably damaging Het
Rasal2 T C 1: 157,174,160 (GRCm38) Y518C probably damaging Het
Rbmxl1 A G 8: 78,506,082 (GRCm38) Y211H probably damaging Het
Rdh7 T C 10: 127,884,585 (GRCm38) Y306C probably benign Het
Rtn3 T C 19: 7,457,911 (GRCm38) I220V probably damaging Het
Scn8a A G 15: 101,015,861 (GRCm38) N1045D possibly damaging Het
Scube1 T C 15: 83,607,437 (GRCm38) H952R probably damaging Het
Sf3b1 A G 1: 55,000,652 (GRCm38) I690T probably damaging Het
Sharpin T C 15: 76,347,936 (GRCm38) K240R probably benign Het
Skint5 A G 4: 113,563,459 (GRCm38) I1108T unknown Het
Snip1 A G 4: 125,071,201 (GRCm38) D133G probably benign Het
St3gal3 T C 4: 118,014,774 (GRCm38) Y77C probably damaging Het
Sytl3 T C 17: 6,715,481 (GRCm38) V112A probably benign Het
Tnxb C T 17: 34,717,970 (GRCm38) P3718S probably damaging Het
Ttc24 A T 3: 88,073,094 (GRCm38) probably null Het
Ubr3 A T 2: 70,009,129 (GRCm38) E1529V probably damaging Het
Utrn T A 10: 12,710,138 (GRCm38) H965L probably benign Het
Xrn2 T A 2: 147,061,423 (GRCm38) L781Q probably damaging Het
Zbtb11 T C 16: 55,990,682 (GRCm38) I401T probably benign Het
Zc3h14 C T 12: 98,758,580 (GRCm38) P167L probably damaging Het
Zfp609 G T 9: 65,703,092 (GRCm38) S863* probably null Het
Other mutations in N4bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:N4bp2 APN 5 65,807,524 (GRCm38) missense probably damaging 0.96
IGL01503:N4bp2 APN 5 65,803,547 (GRCm38) nonsense probably null 0.00
IGL01621:N4bp2 APN 5 65,790,924 (GRCm38) missense probably damaging 1.00
IGL02109:N4bp2 APN 5 65,798,134 (GRCm38) missense probably damaging 1.00
IGL02286:N4bp2 APN 5 65,803,552 (GRCm38) missense probably damaging 1.00
1mM(1):N4bp2 UTSW 5 65,807,677 (GRCm38) missense probably damaging 1.00
IGL03046:N4bp2 UTSW 5 65,790,960 (GRCm38) missense probably damaging 1.00
R0164:N4bp2 UTSW 5 65,803,573 (GRCm38) splice site probably benign
R0285:N4bp2 UTSW 5 65,806,559 (GRCm38) missense probably benign 0.00
R0366:N4bp2 UTSW 5 65,806,396 (GRCm38) missense possibly damaging 0.95
R0548:N4bp2 UTSW 5 65,808,153 (GRCm38) missense probably benign 0.39
R0551:N4bp2 UTSW 5 65,820,341 (GRCm38) splice site probably null
R0671:N4bp2 UTSW 5 65,807,437 (GRCm38) missense probably damaging 0.99
R1136:N4bp2 UTSW 5 65,808,472 (GRCm38) missense probably damaging 1.00
R1515:N4bp2 UTSW 5 65,790,498 (GRCm38) missense probably benign 0.01
R1597:N4bp2 UTSW 5 65,807,140 (GRCm38) missense probably benign 0.45
R1628:N4bp2 UTSW 5 65,803,572 (GRCm38) splice site probably null
R1722:N4bp2 UTSW 5 65,806,882 (GRCm38) missense probably benign 0.08
R1745:N4bp2 UTSW 5 65,790,822 (GRCm38) missense probably benign 0.12
R1759:N4bp2 UTSW 5 65,826,613 (GRCm38) missense probably damaging 1.00
R1799:N4bp2 UTSW 5 65,806,825 (GRCm38) missense possibly damaging 0.62
R1846:N4bp2 UTSW 5 65,808,519 (GRCm38) missense probably damaging 1.00
R1872:N4bp2 UTSW 5 65,794,518 (GRCm38) splice site probably benign
R2042:N4bp2 UTSW 5 65,826,621 (GRCm38) missense probably damaging 1.00
R2082:N4bp2 UTSW 5 65,807,565 (GRCm38) missense probably damaging 1.00
R2101:N4bp2 UTSW 5 65,790,881 (GRCm38) missense probably damaging 1.00
R2147:N4bp2 UTSW 5 65,809,200 (GRCm38) missense probably damaging 1.00
R2251:N4bp2 UTSW 5 65,806,728 (GRCm38) missense probably damaging 1.00
R2507:N4bp2 UTSW 5 65,790,061 (GRCm38) missense probably benign 0.01
R2508:N4bp2 UTSW 5 65,790,061 (GRCm38) missense probably benign 0.01
R2919:N4bp2 UTSW 5 65,807,098 (GRCm38) missense probably benign 0.22
R3086:N4bp2 UTSW 5 65,791,053 (GRCm38) missense probably damaging 1.00
R4092:N4bp2 UTSW 5 65,790,456 (GRCm38) missense probably benign 0.02
R4177:N4bp2 UTSW 5 65,798,170 (GRCm38) splice site probably null
R4718:N4bp2 UTSW 5 65,803,463 (GRCm38) missense probably damaging 1.00
R4859:N4bp2 UTSW 5 65,825,298 (GRCm38) missense probably damaging 1.00
R4863:N4bp2 UTSW 5 65,808,130 (GRCm38) missense probably benign 0.22
R4915:N4bp2 UTSW 5 65,803,504 (GRCm38) missense probably damaging 1.00
R4949:N4bp2 UTSW 5 65,821,799 (GRCm38) splice site probably null
R4978:N4bp2 UTSW 5 65,790,240 (GRCm38) missense probably damaging 1.00
R5029:N4bp2 UTSW 5 65,814,780 (GRCm38) missense probably damaging 1.00
R5079:N4bp2 UTSW 5 65,811,977 (GRCm38) missense probably damaging 1.00
R5097:N4bp2 UTSW 5 65,817,218 (GRCm38) missense probably damaging 1.00
R5158:N4bp2 UTSW 5 65,808,462 (GRCm38) missense probably damaging 0.99
R5228:N4bp2 UTSW 5 65,807,518 (GRCm38) missense probably benign
R5322:N4bp2 UTSW 5 65,790,457 (GRCm38) missense possibly damaging 0.76
R5554:N4bp2 UTSW 5 65,808,114 (GRCm38) missense probably benign 0.44
R5731:N4bp2 UTSW 5 65,809,157 (GRCm38) missense probably damaging 1.00
R5840:N4bp2 UTSW 5 65,808,094 (GRCm38) missense probably damaging 0.99
R6393:N4bp2 UTSW 5 65,791,001 (GRCm38) missense possibly damaging 0.81
R6767:N4bp2 UTSW 5 65,817,187 (GRCm38) missense probably damaging 1.00
R7103:N4bp2 UTSW 5 65,806,846 (GRCm38) missense probably benign 0.01
R7112:N4bp2 UTSW 5 65,790,707 (GRCm38) missense possibly damaging 0.74
R7171:N4bp2 UTSW 5 65,808,022 (GRCm38) missense probably benign 0.00
R7177:N4bp2 UTSW 5 65,807,548 (GRCm38) missense probably damaging 1.00
R7240:N4bp2 UTSW 5 65,794,545 (GRCm38) missense probably damaging 0.96
R7353:N4bp2 UTSW 5 65,806,371 (GRCm38) missense probably benign 0.01
R7450:N4bp2 UTSW 5 65,825,300 (GRCm38) nonsense probably null
R7560:N4bp2 UTSW 5 65,791,115 (GRCm38) missense probably damaging 0.99
R7698:N4bp2 UTSW 5 65,808,157 (GRCm38) missense probably benign 0.00
R7743:N4bp2 UTSW 5 65,808,459 (GRCm38) missense probably damaging 1.00
R7871:N4bp2 UTSW 5 65,807,103 (GRCm38) missense probably benign 0.00
R7981:N4bp2 UTSW 5 65,812,142 (GRCm38) missense probably benign 0.41
R8065:N4bp2 UTSW 5 65,807,296 (GRCm38) missense probably damaging 0.99
R8067:N4bp2 UTSW 5 65,807,296 (GRCm38) missense probably damaging 0.99
R8164:N4bp2 UTSW 5 65,809,223 (GRCm38) missense probably damaging 1.00
R8166:N4bp2 UTSW 5 65,820,312 (GRCm38) missense probably benign 0.39
R8331:N4bp2 UTSW 5 65,807,600 (GRCm38) missense probably damaging 1.00
R8559:N4bp2 UTSW 5 65,825,285 (GRCm38) missense possibly damaging 0.62
R8806:N4bp2 UTSW 5 65,808,208 (GRCm38) missense possibly damaging 0.63
R9287:N4bp2 UTSW 5 65,803,512 (GRCm38) missense probably benign 0.38
R9369:N4bp2 UTSW 5 65,806,916 (GRCm38) missense probably damaging 0.97
R9460:N4bp2 UTSW 5 65,806,543 (GRCm38) missense probably benign 0.00
R9462:N4bp2 UTSW 5 65,790,555 (GRCm38) missense probably benign 0.02
R9605:N4bp2 UTSW 5 65,806,536 (GRCm38) missense probably benign 0.02
R9641:N4bp2 UTSW 5 65,790,692 (GRCm38) missense probably benign 0.15
Z1177:N4bp2 UTSW 5 65,807,637 (GRCm38) 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