Incidental Mutation 'R8753:N4bp1'
ID 663979
Institutional Source Beutler Lab
Gene Symbol N4bp1
Ensembl Gene ENSMUSG00000031652
Gene Name NEDD4 binding protein 1
Synonyms
MMRRC Submission 068619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8753 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 87567764-87612489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87575085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 737 (I737V)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
AlphaFold Q6A037
Predicted Effect probably damaging
Transcript: ENSMUST00000034074
AA Change: I737V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: I737V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,332,706 (GRCm39) Y1496H probably damaging Het
Acan G A 7: 78,748,516 (GRCm39) E1096K possibly damaging Het
Adprhl1 T C 8: 13,272,118 (GRCm39) K1547E possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arf4 T A 14: 26,374,114 (GRCm39) probably benign Het
Boc A T 16: 44,320,775 (GRCm39) M295K Het
C2cd3 T A 7: 100,049,024 (GRCm39) probably null Het
Calcrl C G 2: 84,178,659 (GRCm39) G223A probably benign Het
Calcrl C A 2: 84,178,661 (GRCm39) M222I probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Ccz1 A G 5: 143,925,050 (GRCm39) C469R probably benign Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Clpx G A 9: 65,223,958 (GRCm39) G251S probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Cpox T A 16: 58,498,391 (GRCm39) M408K probably damaging Het
Crybb3 A G 5: 113,226,247 (GRCm39) probably null Het
Cubn A T 2: 13,313,377 (GRCm39) C3064* probably null Het
Cxcl3 CCTGCTGCTGCTGCTG CCTGCTGCTGCTG 5: 90,934,071 (GRCm39) probably benign Het
Cyp4a31 A T 4: 115,432,158 (GRCm39) S432C probably benign Het
Ddias A T 7: 92,508,668 (GRCm39) F416I probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnttip2 A G 3: 122,074,398 (GRCm39) T612A probably damaging Het
Fnip1 A G 11: 54,400,867 (GRCm39) T1089A probably damaging Het
Gm12117 A T 11: 33,225,953 (GRCm39) L128M probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Ibtk T C 9: 85,610,819 (GRCm39) T285A probably benign Het
Ifi206 A T 1: 173,301,223 (GRCm39) N818K unknown Het
Itga10 T G 3: 96,558,471 (GRCm39) L305R probably damaging Het
Khnyn T C 14: 56,125,223 (GRCm39) Y461H possibly damaging Het
Macroh2a2 T C 10: 61,585,113 (GRCm39) D177G possibly damaging Het
Mbtps1 T C 8: 120,235,601 (GRCm39) S1026G possibly damaging Het
Msantd4 A G 9: 4,385,013 (GRCm39) E246G probably damaging Het
Nav2 T G 7: 49,102,320 (GRCm39) S373A probably benign Het
Nbea T C 3: 55,534,329 (GRCm39) Y2936C probably damaging Het
Nbeal1 A T 1: 60,307,542 (GRCm39) I1685F probably damaging Het
Nt5c3 C G 6: 56,860,677 (GRCm39) G293R probably damaging Het
Or4f14c A T 2: 111,940,802 (GRCm39) V265E probably benign Het
Or52z1 T A 7: 103,436,567 (GRCm39) I306F probably benign Het
Pcnx2 A T 8: 126,613,999 (GRCm39) V484E probably benign Het
Pcsk5 C T 19: 17,446,408 (GRCm39) R1195Q probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pitpnm3 A G 11: 71,942,704 (GRCm39) V861A probably benign Het
Pkd1 A G 17: 24,793,176 (GRCm39) Y1621C probably damaging Het
Polr3a C A 14: 24,513,702 (GRCm39) E846* probably null Het
Polr3e T C 7: 120,539,540 (GRCm39) V455A possibly damaging Het
Prr5l C T 2: 101,571,723 (GRCm39) G118D probably damaging Het
Pygl G T 12: 70,242,400 (GRCm39) N685K probably damaging Het
Rfx8 A G 1: 39,757,600 (GRCm39) V56A probably damaging Het
Sbf1 T C 15: 89,179,662 (GRCm39) D1341G probably benign Het
Selenon T C 4: 134,275,330 (GRCm39) T123A probably benign Het
Slc23a1 T G 18: 35,752,631 (GRCm39) K549Q probably benign Het
Slc7a13 T C 4: 19,841,443 (GRCm39) F430S probably damaging Het
Smarcc2 G A 10: 128,319,070 (GRCm39) V707M probably damaging Het
St18 A G 1: 6,916,015 (GRCm39) S887G probably damaging Het
T2 T C 17: 8,615,477 (GRCm39) probably benign Het
Tbc1d16 A G 11: 119,101,492 (GRCm39) L6P probably damaging Het
Tcf7l2 T C 19: 55,920,195 (GRCm39) L576P possibly damaging Het
Tnr A G 1: 159,677,936 (GRCm39) D107G probably benign Het
Trpv1 G T 11: 73,135,082 (GRCm39) K426N probably damaging Het
Vmn1r15 A T 6: 57,235,895 (GRCm39) L254F probably benign Het
Vmn1r219 A T 13: 23,347,191 (GRCm39) I127F probably damaging Het
Zc3h14 A T 12: 98,724,831 (GRCm39) E164D 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
R3689:N4bp1 UTSW 8 87,587,184 (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
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'- TCAGCAAGAAAGCCTGCAGG -3'
(R):5'- TTCATGTCCTTGACCCAGCG -3'

Sequencing Primer
(F):5'- CCTGCAGGCTAAACTCATGG -3'
(R):5'- TTGACCCAGCGGCTCCAG -3'
Posted On 2021-03-08