Incidental Mutation 'R3689:N4bp1'
ID 269671
Institutional Source Beutler Lab
Gene Symbol N4bp1
Ensembl Gene ENSMUSG00000031652
Gene Name NEDD4 binding protein 1
Synonyms
MMRRC Submission 040684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3689 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 87567764-87612489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87587184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 585 (D585N)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
AlphaFold Q6A037
Predicted Effect probably damaging
Transcript: ENSMUST00000034074
AA Change: D585N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: D585N

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
low complexity region 375 390 N/A INTRINSIC
low complexity region 548 571 N/A INTRINSIC
Pfam:RNase_Zc3h12a 614 767 4.7e-59 PFAM
Meta Mutation Damage Score 0.6183 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,779,088 (GRCm39) L984Q probably damaging Het
Atg16l1 T C 1: 87,713,626 (GRCm39) V427A probably damaging Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Blm G C 7: 80,162,827 (GRCm39) P175A possibly damaging Het
Bpifb1 A G 2: 154,051,819 (GRCm39) D208G probably benign Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cep162 G A 9: 87,107,747 (GRCm39) Q548* probably null Het
Chchd10 T C 10: 75,771,835 (GRCm39) probably benign Het
Cog3 T C 14: 75,991,878 (GRCm39) M1V probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Erich2 T C 2: 70,371,097 (GRCm39) V419A unknown Het
Fam53c A G 18: 34,903,886 (GRCm39) D386G probably damaging Het
Fgd2 A G 17: 29,597,924 (GRCm39) T620A probably benign Het
G930045G22Rik A T 6: 50,823,535 (GRCm39) noncoding transcript Het
Grpel1 G A 5: 36,626,769 (GRCm39) probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Mtss1 A G 15: 58,825,385 (GRCm39) S272P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Niban1 A G 1: 151,579,447 (GRCm39) probably null Het
Nms T C 1: 38,986,075 (GRCm39) probably benign Het
Nsun2 A G 13: 69,760,456 (GRCm39) N45D probably damaging Het
Or4c116 T A 2: 88,942,386 (GRCm39) I157L possibly damaging Het
Pak6 C T 2: 118,523,921 (GRCm39) Q359* probably null Het
Pcdhb12 C T 18: 37,569,127 (GRCm39) A91V probably benign Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Plscr1l1 A C 9: 92,234,673 (GRCm39) N60T probably damaging Het
Sec31a T A 5: 100,530,766 (GRCm39) D239V probably damaging Het
Slc13a4 T C 6: 35,245,845 (GRCm39) N600S possibly damaging Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Sprr2j-ps A G 3: 92,326,290 (GRCm39) H55R probably benign Het
Srsf9 A G 5: 115,465,387 (GRCm39) D7G probably benign Het
Stt3a T C 9: 36,670,618 (GRCm39) Y51C probably damaging Het
Taf5 A G 19: 47,067,224 (GRCm39) K519E probably damaging Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tnk1 C A 11: 69,746,425 (GRCm39) D263Y probably damaging Het
Ttc21b T A 2: 66,054,488 (GRCm39) I714F probably benign Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Txn1 T C 4: 57,950,846 (GRCm39) D61G probably benign Het
Ugcg T C 4: 59,211,883 (GRCm39) V83A probably benign Het
Ulk3 T C 9: 57,501,077 (GRCm39) V348A probably benign Het
Wdr93 A G 7: 79,421,333 (GRCm39) T409A possibly damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zc3h12c C T 9: 52,027,256 (GRCm39) R721H probably benign Het
Zfp169 A G 13: 48,660,377 (GRCm39) probably benign Het
Other mutations in N4bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:N4bp1 APN 8 87,588,354 (GRCm39) missense probably benign 0.01
IGL00659:N4bp1 APN 8 87,588,430 (GRCm39) missense probably damaging 1.00
IGL01484:N4bp1 APN 8 87,571,400 (GRCm39) missense probably damaging 0.99
IGL01788:N4bp1 APN 8 87,587,624 (GRCm39) missense probably benign 0.06
IGL01989:N4bp1 APN 8 87,575,115 (GRCm39) missense probably damaging 1.00
IGL02619:N4bp1 APN 8 87,587,529 (GRCm39) missense probably benign 0.01
IGL03290:N4bp1 APN 8 87,575,161 (GRCm39) missense probably benign 0.31
Acorn UTSW 8 87,588,534 (GRCm39) nonsense probably null
oak UTSW 8 87,588,424 (GRCm39) nonsense probably null
Squirrel UTSW 8 87,578,337 (GRCm39) missense probably damaging 1.00
Stash UTSW 8 87,587,052 (GRCm39) critical splice donor site probably null
walnut UTSW 8 87,573,540 (GRCm39) missense probably damaging 1.00
winter UTSW 8 87,588,311 (GRCm39) missense probably benign
R0760:N4bp1 UTSW 8 87,573,540 (GRCm39) missense probably damaging 1.00
R1202:N4bp1 UTSW 8 87,571,515 (GRCm39) missense probably benign 0.02
R1653:N4bp1 UTSW 8 87,571,576 (GRCm39) missense probably benign 0.10
R1878:N4bp1 UTSW 8 87,588,169 (GRCm39) missense probably damaging 0.98
R2325:N4bp1 UTSW 8 87,575,088 (GRCm39) missense probably damaging 1.00
R2442:N4bp1 UTSW 8 87,588,668 (GRCm39) missense probably damaging 1.00
R2867:N4bp1 UTSW 8 87,588,033 (GRCm39) missense probably benign 0.02
R2867:N4bp1 UTSW 8 87,588,033 (GRCm39) missense probably benign 0.02
R2926:N4bp1 UTSW 8 87,588,424 (GRCm39) nonsense probably null
R3625:N4bp1 UTSW 8 87,578,337 (GRCm39) missense probably damaging 1.00
R3863:N4bp1 UTSW 8 87,587,055 (GRCm39) missense probably benign 0.13
R4872:N4bp1 UTSW 8 87,587,676 (GRCm39) missense probably benign 0.01
R4902:N4bp1 UTSW 8 87,588,311 (GRCm39) missense probably benign
R4965:N4bp1 UTSW 8 87,578,314 (GRCm39) missense possibly damaging 0.69
R5070:N4bp1 UTSW 8 87,587,165 (GRCm39) missense probably damaging 0.98
R5392:N4bp1 UTSW 8 87,587,048 (GRCm39) splice site probably null
R5719:N4bp1 UTSW 8 87,578,312 (GRCm39) missense probably damaging 1.00
R6280:N4bp1 UTSW 8 87,579,794 (GRCm39) missense possibly damaging 0.68
R6292:N4bp1 UTSW 8 87,579,867 (GRCm39) missense probably damaging 0.99
R6350:N4bp1 UTSW 8 87,588,596 (GRCm39) missense probably damaging 0.99
R6543:N4bp1 UTSW 8 87,588,534 (GRCm39) nonsense probably null
R6965:N4bp1 UTSW 8 87,571,461 (GRCm39) missense probably damaging 1.00
R7120:N4bp1 UTSW 8 87,587,495 (GRCm39) missense probably benign 0.01
R7172:N4bp1 UTSW 8 87,587,052 (GRCm39) critical splice donor site probably null
R7791:N4bp1 UTSW 8 87,579,831 (GRCm39) missense probably damaging 0.99
R8084:N4bp1 UTSW 8 87,587,636 (GRCm39) missense probably benign 0.28
R8220:N4bp1 UTSW 8 87,571,315 (GRCm39) makesense probably null
R8523:N4bp1 UTSW 8 87,579,789 (GRCm39) missense probably damaging 1.00
R8753:N4bp1 UTSW 8 87,575,085 (GRCm39) missense probably damaging 1.00
R9445:N4bp1 UTSW 8 87,587,238 (GRCm39) nonsense probably null
R9464:N4bp1 UTSW 8 87,587,165 (GRCm39) missense probably damaging 0.98
X0067:N4bp1 UTSW 8 87,588,548 (GRCm39) missense probably damaging 1.00
Z1177:N4bp1 UTSW 8 87,579,787 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTGCTTAGAAAACTGTGTAAGGG -3'
(R):5'- TGTTTCAAGGGGAGCTTCAG -3'

Sequencing Primer
(F):5'- TAAGGGTGATCTGCAGAGTGACTTAC -3'
(R):5'- ACCCAGCTTTTCCTGAAAATGG -3'
Posted On 2015-02-19