Incidental Mutation 'R9326:N4bp3'
ID 706537
Institutional Source Beutler Lab
Gene Symbol N4bp3
Ensembl Gene ENSMUSG00000001053
Gene Name NEDD4 binding protein 3
Synonyms C330016O10Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9326 (G1)
Quality Score 222.009
Status Validated
Chromosome 11
Chromosomal Location 51533908-51541664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51535313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 292 (R292H)
Ref Sequence ENSEMBL: ENSMUSP00000001080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000142721] [ENSMUST00000156835]
AlphaFold Q8C7U1
Predicted Effect probably benign
Transcript: ENSMUST00000001080
AA Change: R292H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053
AA Change: R292H

DomainStartEndE-ValueType
low complexity region 176 207 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
coiled coil region 295 334 N/A INTRINSIC
Pfam:Fez1 359 442 2.3e-21 PFAM
Pfam:Fez1 433 519 4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142721
Predicted Effect probably benign
Transcript: ENSMUST00000156835
Meta Mutation Damage Score 0.0694 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,849,882 (GRCm39) Y230* probably null Het
Adamts14 A G 10: 61,036,238 (GRCm39) S1015P probably benign Het
Adamts8 A G 9: 30,854,886 (GRCm39) T252A probably benign Het
Adamtsl1 T A 4: 86,150,804 (GRCm39) S149T possibly damaging Het
Afp A G 5: 90,652,205 (GRCm39) K399E probably damaging Het
Atp8b1 T A 18: 64,706,344 (GRCm39) S222C probably damaging Het
Ccdc88c C A 12: 100,995,109 (GRCm39) probably benign Het
Cfap276 C T 3: 108,451,931 (GRCm39) R159W probably damaging Het
Cip2a G A 16: 48,834,235 (GRCm39) probably null Het
Cluh A G 11: 74,554,902 (GRCm39) K780R probably benign Het
Cope C A 8: 70,755,516 (GRCm39) F20L possibly damaging Het
Cps1 G T 1: 67,248,795 (GRCm39) R1174L probably damaging Het
Csmd1 G A 8: 16,049,803 (GRCm39) T2271I probably benign Het
Ctbp2 A G 7: 132,616,359 (GRCm39) I192T probably benign Het
Dcun1d4 A G 5: 73,680,018 (GRCm39) T106A probably benign Het
Ddb2 A T 2: 91,047,559 (GRCm39) M240K probably benign Het
Ddx20 A T 3: 105,591,735 (GRCm39) V145D probably damaging Het
Ddx31 A G 2: 28,749,008 (GRCm39) D268G probably damaging Het
Drc7 A G 8: 95,801,886 (GRCm39) I716V probably benign Het
Epb41l4a G T 18: 33,961,261 (GRCm39) Y424* probably null Het
Exog A G 9: 119,291,554 (GRCm39) N277S probably damaging Het
Fzd7 T C 1: 59,522,837 (GRCm39) L240P possibly damaging Het
Gpr87 T C 3: 59,086,609 (GRCm39) T299A probably damaging Het
Hecw2 A G 1: 54,079,369 (GRCm39) Y95H probably damaging Het
Idh1 T C 1: 65,205,416 (GRCm39) Y183C probably damaging Het
Ighv14-4 T A 12: 114,140,469 (GRCm39) I7F possibly damaging Het
Il1rap A T 16: 26,495,641 (GRCm39) I83F probably damaging Het
Jag1 A G 2: 136,931,745 (GRCm39) S609P probably benign Het
Klhl33 T C 14: 51,134,615 (GRCm39) E9G possibly damaging Het
Lama2 A G 10: 26,906,193 (GRCm39) F2421L probably benign Het
Lmod2 A T 6: 24,597,999 (GRCm39) I40F probably damaging Het
Lsm5 A T 6: 56,681,616 (GRCm39) L13Q possibly damaging Het
Man2c1 G T 9: 57,042,904 (GRCm39) C258F probably damaging Het
Mgst1 T C 6: 138,120,023 (GRCm39) S28P probably benign Het
Msh3 A T 13: 92,400,307 (GRCm39) V744E probably benign Het
Mtx2 C T 2: 74,656,287 (GRCm39) probably benign Het
Neto2 A T 8: 86,369,063 (GRCm39) W354R probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nutm1 A T 2: 112,078,692 (GRCm39) S1074R possibly damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or10ag56 T A 2: 87,139,730 (GRCm39) M219K probably benign Het
Or5aq1 T C 2: 86,966,647 (GRCm39) H6R probably benign Het
Or7g29 A T 9: 19,286,346 (GRCm39) M277K probably damaging Het
Or8s8 T C 15: 98,354,935 (GRCm39) V248A probably damaging Het
Pi4kb T A 3: 94,900,506 (GRCm39) probably null Het
Rgsl1 C T 1: 153,679,768 (GRCm39) D103N probably benign Het
Rrbp1 G A 2: 143,806,744 (GRCm39) T958M probably damaging Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Setd2 T C 9: 110,378,671 (GRCm39) C829R probably benign Het
Snd1 A T 6: 28,795,842 (GRCm39) R562* probably null Het
Snx27 A T 3: 94,409,369 (GRCm39) Y526N probably damaging Het
Stab2 A G 10: 86,791,010 (GRCm39) L483P probably damaging Het
Sybu A G 15: 44,537,019 (GRCm39) S436P probably damaging Het
Thy1 A G 9: 43,957,983 (GRCm39) D37G probably damaging Het
Tmed8 A T 12: 87,221,395 (GRCm39) I126N probably damaging Het
Tmem161b T A 13: 84,440,602 (GRCm39) L340* probably null Het
Tpr C T 1: 150,301,407 (GRCm39) A1331V possibly damaging Het
Tprg1 G A 16: 25,136,107 (GRCm39) E33K probably benign Het
Vps26b T C 9: 26,930,627 (GRCm39) N123D probably damaging Het
Wdr7 G A 18: 63,872,260 (GRCm39) S398N probably benign Het
Zbtb48 T C 4: 152,111,509 (GRCm39) D2G probably damaging Het
Zfp975 G A 7: 42,311,837 (GRCm39) R259* probably null Het
Zfp986 T A 4: 145,626,451 (GRCm39) H370Q probably damaging Het
Other mutations in N4bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:N4bp3 APN 11 51,536,143 (GRCm39) missense probably benign 0.28
IGL02130:N4bp3 APN 11 51,534,773 (GRCm39) missense possibly damaging 0.77
IGL02265:N4bp3 APN 11 51,534,645 (GRCm39) missense probably benign 0.14
IGL02516:N4bp3 APN 11 51,535,161 (GRCm39) missense probably benign 0.00
R1435:N4bp3 UTSW 11 51,535,167 (GRCm39) missense probably damaging 0.97
R2270:N4bp3 UTSW 11 51,535,132 (GRCm39) missense probably benign 0.00
R2291:N4bp3 UTSW 11 51,536,930 (GRCm39) missense probably damaging 1.00
R3236:N4bp3 UTSW 11 51,536,761 (GRCm39) missense probably damaging 1.00
R3237:N4bp3 UTSW 11 51,536,761 (GRCm39) missense probably damaging 1.00
R4695:N4bp3 UTSW 11 51,535,306 (GRCm39) splice site probably null
R5154:N4bp3 UTSW 11 51,536,139 (GRCm39) missense probably benign 0.09
R5839:N4bp3 UTSW 11 51,536,909 (GRCm39) missense probably benign
R6632:N4bp3 UTSW 11 51,534,776 (GRCm39) missense possibly damaging 0.94
R7346:N4bp3 UTSW 11 51,536,433 (GRCm39) missense probably benign 0.14
R8369:N4bp3 UTSW 11 51,535,253 (GRCm39) missense probably damaging 1.00
R8898:N4bp3 UTSW 11 51,535,256 (GRCm39) missense probably benign 0.00
R9595:N4bp3 UTSW 11 51,536,932 (GRCm39) missense probably damaging 1.00
R9604:N4bp3 UTSW 11 51,536,493 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTCAGATGGTGTCCTAC -3'
(R):5'- GGTGCATAAGACATTAATGGTGGC -3'

Sequencing Primer
(F):5'- ATTGGGGTCAGCCTCCATG -3'
(R):5'- GCTGGCTATGGGCACAAATG -3'
Posted On 2022-04-18