Incidental Mutation 'R3863:N4bp1'
ID 276429
Institutional Source Beutler Lab
Gene Symbol N4bp1
Ensembl Gene ENSMUSG00000031652
Gene Name NEDD4 binding protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3863 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 87567764-87612489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87587055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 628 (T628A)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
AlphaFold Q6A037
Predicted Effect probably benign
Transcript: ENSMUST00000034074
AA Change: T628A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: T628A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A T 19: 40,539,758 (GRCm39) I739N probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Ccdc85a T A 11: 28,527,335 (GRCm39) probably null Het
D430041D05Rik T C 2: 104,044,522 (GRCm39) I825M possibly damaging Het
Evi2 T A 11: 79,406,472 (GRCm39) I368F probably benign Het
Greb1 G A 12: 16,752,421 (GRCm39) R974W probably damaging Het
Ighv1-7 A G 12: 114,502,266 (GRCm39) I67T probably damaging Het
Kcnd2 C G 6: 21,217,262 (GRCm39) S322* probably null Het
Lats1 T C 10: 7,581,510 (GRCm39) V765A probably damaging Het
Lrrd1 G A 5: 3,901,248 (GRCm39) V518I probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Marchf11 C T 15: 26,387,952 (GRCm39) A269V probably damaging Het
Mep1b A G 18: 21,217,226 (GRCm39) N115S possibly damaging Het
Nuak1 C T 10: 84,213,951 (GRCm39) probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Parp8 A G 13: 117,031,303 (GRCm39) S470P probably benign Het
Pcdhb3 A G 18: 37,436,329 (GRCm39) E765G probably damaging Het
Rbm26 G T 14: 105,358,504 (GRCm39) Q912K probably damaging Het
Sgcz T C 8: 37,990,565 (GRCm39) I263V probably benign Het
Slc15a1 C T 14: 121,722,269 (GRCm39) V211I probably benign Het
Slc4a4 T C 5: 89,283,507 (GRCm39) F442S possibly damaging Het
Sorcs2 G T 5: 36,555,007 (GRCm39) S128* probably null Het
Vmn1r173 T A 7: 23,401,977 (GRCm39) F71I probably damaging 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
R3689:N4bp1 UTSW 8 87,587,184 (GRCm39) missense probably damaging 1.00
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'- TCTTACCCACAGGAATAGGGTA -3'
(R):5'- AGTTACTGAGGCTCGATTGG -3'

Sequencing Primer
(F):5'- TCCCGAGCAGCCAAGATAGTTTG -3'
(R):5'- CGATTGGGAGGGTCCTCTGAC -3'
Posted On 2015-04-06