Incidental Mutation 'R6632:N4bp3'
ID 525235
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 # R6632 (G1)
Quality Score 174.009
Status Validated
Chromosome 11
Chromosomal Location 51643063-51650842 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51643949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 429 (E429G)
Ref Sequence ENSEMBL: ENSMUSP00000001080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000142721] [ENSMUST00000156835]
AlphaFold Q8C7U1
Predicted Effect possibly damaging
Transcript: ENSMUST00000001080
AA Change: E429G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053
AA Change: E429G

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 0.0812 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,067 S758P possibly damaging Het
Abca3 C G 17: 24,384,470 D545E probably benign Het
Akap9 T A 5: 4,013,842 probably null Het
Akr1b3 C T 6: 34,310,004 V206M possibly damaging Het
Arpp21 G A 9: 112,127,356 Q518* probably null Het
Atp9b G A 18: 80,808,649 R410W probably damaging Het
Cacna2d3 T C 14: 28,905,265 *265W probably null Het
Ccdc96 G A 5: 36,485,189 E180K probably benign Het
Cep164 T C 9: 45,779,790 K1231E possibly damaging Het
Cnot1 A G 8: 95,773,267 probably benign Het
Cpne2 T C 8: 94,554,955 V206A probably benign Het
Dchs1 A G 7: 105,761,878 Y1647H probably damaging Het
Dnaaf5 A G 5: 139,170,333 T590A probably benign Het
Eif4g1 A T 16: 20,685,520 I1068F probably damaging Het
Ephb4 A T 5: 137,366,587 K639N probably damaging Het
Gcc2 A G 10: 58,270,049 probably null Het
Gm35315 A C 5: 110,079,263 Y103* probably null Het
Hsd17b4 A G 18: 50,179,102 K578R possibly damaging Het
Ice2 T C 9: 69,428,452 S906P probably benign Het
Irx4 G T 13: 73,268,426 A314S probably benign Het
Lama5 G A 2: 180,191,662 P1519L probably damaging Het
Lrp1b A T 2: 40,725,442 W3650R probably benign Het
Mcoln3 C T 3: 146,128,187 H161Y probably benign Het
Mphosph10 A T 7: 64,385,819 M368K probably damaging Het
Msh2 A C 17: 87,712,666 K567Q possibly damaging Het
Nrxn3 G A 12: 89,193,154 A17T probably damaging Het
Olfr1459 T A 19: 13,146,188 Y157F probably benign Het
Olfr171 T C 16: 19,625,023 T26A probably benign Het
P4ha2 G T 11: 54,117,648 R227L probably benign Het
Pfkfb4 G A 9: 109,009,562 probably null Het
Ror1 A G 4: 100,442,106 N892S probably benign Het
Scn9a G T 2: 66,483,502 D1957E probably benign Het
Sec24a A T 11: 51,713,649 Y713* probably null Het
Serpinb1b T A 13: 33,087,455 F70I probably damaging Het
Setdb1 T C 3: 95,324,149 Y1284C probably damaging Het
Suco A T 1: 161,828,240 M1030K possibly damaging Het
Syne1 A T 10: 5,215,667 probably null Het
Other mutations in N4bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:N4bp3 APN 11 51645316 missense probably benign 0.28
IGL02130:N4bp3 APN 11 51643946 missense possibly damaging 0.77
IGL02265:N4bp3 APN 11 51643818 missense probably benign 0.14
IGL02516:N4bp3 APN 11 51644334 missense probably benign 0.00
R1435:N4bp3 UTSW 11 51644340 missense probably damaging 0.97
R2270:N4bp3 UTSW 11 51644305 missense probably benign 0.00
R2291:N4bp3 UTSW 11 51646103 missense probably damaging 1.00
R3236:N4bp3 UTSW 11 51645934 missense probably damaging 1.00
R3237:N4bp3 UTSW 11 51645934 missense probably damaging 1.00
R4695:N4bp3 UTSW 11 51644479 splice site probably null
R5154:N4bp3 UTSW 11 51645312 missense probably benign 0.09
R5839:N4bp3 UTSW 11 51646082 missense probably benign
R7346:N4bp3 UTSW 11 51645606 missense probably benign 0.14
R8369:N4bp3 UTSW 11 51644426 missense probably damaging 1.00
R8898:N4bp3 UTSW 11 51644429 missense probably benign 0.00
R9326:N4bp3 UTSW 11 51644486 missense probably benign 0.03
R9595:N4bp3 UTSW 11 51646105 missense probably damaging 1.00
R9604:N4bp3 UTSW 11 51645666 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCCATGTAGCTCCCTTGG -3'
(R):5'- TGTTGAAACAGCAGCTCCG -3'

Sequencing Primer
(F):5'- CCCTTGGATTTCTCGCTGGTAG -3'
(R):5'- AACAGCAGCTCCGGGAAGC -3'
Posted On 2018-06-22