Incidental Mutation 'R1878:N4bp1'
ID 211313
Institutional Source Beutler Lab
Gene Symbol N4bp1
Ensembl Gene ENSMUSG00000031652
Gene Name NEDD4 binding protein 1
Synonyms
MMRRC Submission 039899-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1878 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 87567764-87612489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87588169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 256 (S256R)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
AlphaFold Q6A037
Predicted Effect probably damaging
Transcript: ENSMUST00000034074
AA Change: S256R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: S256R

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,825,564 (GRCm39) probably null Het
Abcb9 A G 5: 124,228,199 (GRCm39) V14A probably benign Het
Adcy4 T C 14: 56,007,362 (GRCm39) D950G probably damaging Het
Ahctf1 T C 1: 179,603,074 (GRCm39) D828G possibly damaging Het
Ak2 T A 4: 128,895,960 (GRCm39) V79D probably damaging Het
Arhgap29 T C 3: 121,805,020 (GRCm39) Y870H probably damaging Het
Arid4a A G 12: 71,134,363 (GRCm39) K1222E probably damaging Het
Armc1 A T 3: 19,211,708 (GRCm39) D37E probably damaging Het
Cenpm A T 15: 82,118,616 (GRCm39) M166K probably benign Het
Cep97 G T 16: 55,725,589 (GRCm39) P766Q probably damaging Het
Col19a1 G T 1: 24,356,476 (GRCm39) D672E probably benign Het
Col6a2 T C 10: 76,450,622 (GRCm39) D103G probably benign Het
Ddi2 T C 4: 141,411,460 (GRCm39) E484G probably benign Het
Dph1 T C 11: 75,075,053 (GRCm39) D100G probably damaging Het
Dsp A T 13: 38,348,831 (GRCm39) I100F possibly damaging Het
Fam222b T C 11: 78,034,042 (GRCm39) probably null Het
Folh1 A T 7: 86,420,950 (GRCm39) H126Q probably benign Het
Gapvd1 A T 2: 34,615,212 (GRCm39) D428E probably benign Het
Gfus A G 15: 75,797,218 (GRCm39) S306P probably benign Het
Gm11564 A T 11: 99,706,266 (GRCm39) C55S unknown Het
Gne T C 4: 44,040,434 (GRCm39) I577V probably damaging Het
Gpr4 A G 7: 18,957,049 (GRCm39) T324A probably damaging Het
Hhipl1 A T 12: 108,286,319 (GRCm39) N542I possibly damaging Het
Ice2 T C 9: 69,335,858 (GRCm39) probably null Het
Irgm1 C T 11: 48,756,897 (GRCm39) V305I probably benign Het
Itgal C A 7: 126,909,843 (GRCm39) Q73K probably benign Het
Jcad C A 18: 4,673,857 (GRCm39) H540N possibly damaging Het
Jkamp T A 12: 72,140,878 (GRCm39) V141D possibly damaging Het
Lrrc9 T C 12: 72,522,938 (GRCm39) probably null Het
Mcc T C 18: 44,601,467 (GRCm39) R621G possibly damaging Het
Myd88 T A 9: 119,167,686 (GRCm39) Q140L probably benign Het
Mylk3 A T 8: 86,082,028 (GRCm39) N323K possibly damaging Het
Myrip C T 9: 120,253,721 (GRCm39) R265W probably damaging Het
Nhsl1 T G 10: 18,400,027 (GRCm39) S418A probably damaging Het
Nlrp9b A G 7: 19,762,489 (GRCm39) T269A probably benign Het
Nmt1 A G 11: 102,943,077 (GRCm39) N144S probably benign Het
Npvf G A 6: 50,631,303 (GRCm39) T24I probably benign Het
Obscn T G 11: 58,886,379 (GRCm39) Y2347S probably damaging Het
Or10d5 T A 9: 39,862,053 (GRCm39) T5S probably benign Het
Or14j1 T C 17: 38,146,253 (GRCm39) V121A probably benign Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or2aj5 G T 16: 19,424,501 (GRCm39) Q306K probably benign Het
Or2n1c T C 17: 38,519,265 (GRCm39) I43T probably benign Het
Or4c105 A G 2: 88,647,805 (GRCm39) T97A probably benign Het
Or51v8 A C 7: 103,319,389 (GRCm39) M283R probably damaging Het
Or7a42 T A 10: 78,791,639 (GRCm39) M200K possibly damaging Het
Osgin2 A T 4: 16,005,493 (GRCm39) V131D probably damaging Het
Pcdhac2 A T 18: 37,278,215 (GRCm39) K398N possibly damaging Het
Pcnp A T 16: 55,838,850 (GRCm39) M143K probably damaging Het
Ppp3ca A G 3: 136,503,639 (GRCm39) I71V probably benign Het
Ppp4c G T 7: 126,386,779 (GRCm39) R103S probably damaging Het
Prl2c2 T A 13: 13,179,911 (GRCm39) M1L probably damaging Het
Recql5 A T 11: 115,785,927 (GRCm39) D615E probably benign Het
Robo3 T C 9: 37,333,461 (GRCm39) E728G probably damaging Het
Rps27l T A 9: 66,854,911 (GRCm39) probably null Het
Scube3 T A 17: 28,371,387 (GRCm39) V34E probably benign Het
Sez6l A G 5: 112,623,089 (GRCm39) I154T probably damaging Het
Sgsm1 G A 5: 113,411,381 (GRCm39) L782F probably damaging Het
Slc35c1 A G 2: 92,289,398 (GRCm39) V36A probably benign Het
Snapc4 A G 2: 26,266,165 (GRCm39) probably null Het
Sohlh2 C A 3: 55,115,064 (GRCm39) R350S probably damaging Het
Spag1 G A 15: 36,181,916 (GRCm39) E25K probably damaging Het
Sspo G A 6: 48,436,300 (GRCm39) A1217T possibly damaging Het
Stil T C 4: 114,898,423 (GRCm39) S1018P probably damaging Het
Strn T C 17: 78,984,755 (GRCm39) E117G possibly damaging Het
Syt17 A T 7: 118,033,468 (GRCm39) M180K probably benign Het
Trem1 T C 17: 48,548,516 (GRCm39) S18P possibly damaging Het
Umad1 T A 6: 8,427,181 (GRCm39) F145I probably damaging Het
Unc80 A C 1: 66,548,561 (GRCm39) H611P probably damaging Het
Zfp1004 T A 2: 150,034,989 (GRCm39) C437S probably damaging Het
Zfp709 A G 8: 72,643,891 (GRCm39) E440G probably damaging Het
Zfp764 C A 7: 127,004,214 (GRCm39) A306S probably benign Het
Zfp949 T A 9: 88,451,356 (GRCm39) S309T probably damaging Het
Zswim4 T C 8: 84,939,405 (GRCm39) N826D possibly 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
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
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'- AGCTGACCCCTTACCATCTG -3'
(R):5'- GAAGGAACTACTGAGTCTCACAC -3'

Sequencing Primer
(F):5'- TGGCAAAAGCTCCCCTTCTGG -3'
(R):5'- CTACTGAGTCTCACACAAGGGG -3'
Posted On 2014-06-30