Incidental Mutation 'R6626:Ncbp3'
ID 524819
Institutional Source Beutler Lab
Gene Symbol Ncbp3
Ensembl Gene ENSMUSG00000020783
Gene Name nuclear cap binding subunit 3
Synonyms 1200014J11Rik
MMRRC Submission 044748-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6626 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 72937443-72974405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72964210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 387 (S387T)
Ref Sequence ENSEMBL: ENSMUSP00000021135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021135]
AlphaFold Q8BZR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021135
AA Change: S387T

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021135
Gene: ENSMUSG00000020783
AA Change: S387T

DomainStartEndE-ValueType
low complexity region 13 27 N/A INTRINSIC
low complexity region 33 52 N/A INTRINSIC
Pfam:DUF2414 123 177 4.5e-24 PFAM
low complexity region 191 231 N/A INTRINSIC
coiled coil region 345 364 N/A INTRINSIC
low complexity region 379 403 N/A INTRINSIC
low complexity region 581 592 N/A INTRINSIC
low complexity region 602 615 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T C 11: 3,888,056 (GRCm39) H110R unknown Het
Adgrv1 T A 13: 81,666,245 (GRCm39) D1937V probably damaging Het
Ank1 T A 8: 23,465,207 (GRCm39) L19H probably damaging Het
Bcl9 C T 3: 97,122,712 (GRCm39) R29H probably benign Het
Boc A T 16: 44,340,803 (GRCm39) I49N possibly damaging Het
C8a T C 4: 104,703,164 (GRCm39) I298V probably benign Het
Cacna1s T C 1: 136,022,703 (GRCm39) S879P probably damaging Het
Cacna2d3 T C 14: 28,786,143 (GRCm39) probably benign Het
Dnm1 A G 2: 32,230,892 (GRCm39) I63T probably damaging Het
Flnb C T 14: 7,929,012 (GRCm38) R1914C probably damaging Het
Gm9493 A T 19: 23,597,209 (GRCm39) K35M possibly damaging Het
Gpld1 T C 13: 25,163,953 (GRCm39) S552P probably damaging Het
Hacd1 T A 2: 14,031,755 (GRCm39) I243F probably benign Het
Klhdc4 A G 8: 122,546,901 (GRCm39) V110A probably benign Het
Krt26 C T 11: 99,220,528 (GRCm39) V441M probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nav2 A G 7: 49,244,100 (GRCm39) Y2109C probably damaging Het
Notch2 T G 3: 98,008,921 (GRCm39) V513G probably damaging Het
Nt5c1b A T 12: 10,424,837 (GRCm39) R128* probably null Het
Olig2 T C 16: 91,024,044 (GRCm39) S253P unknown Het
Or6b1 A G 6: 42,815,582 (GRCm39) M256V probably benign Het
Or8g17 A G 9: 38,930,402 (GRCm39) V145A possibly damaging Het
Or8k53 C T 2: 86,177,364 (GRCm39) V249I possibly damaging Het
Phkb T A 8: 86,648,780 (GRCm39) F199I probably damaging Het
Rnf17 A G 14: 56,665,381 (GRCm39) T178A possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Slc16a4 G A 3: 107,208,512 (GRCm39) A341T possibly damaging Het
Spata31h1 A G 10: 82,128,667 (GRCm39) F1448L probably benign Het
Tank T A 2: 61,480,640 (GRCm39) probably benign Het
Tnr A T 1: 159,677,822 (GRCm39) Y69F probably damaging Het
Trp53bp1 T C 2: 121,038,284 (GRCm39) D1518G probably damaging Het
Txndc16 T C 14: 45,398,792 (GRCm39) probably null Het
Ugp2 A G 11: 21,281,028 (GRCm39) Y227H probably damaging Het
Vps50 G A 6: 3,551,101 (GRCm39) W388* probably null Het
Zfp516 T A 18: 83,006,232 (GRCm39) D1045E probably damaging Het
Zscan10 C T 17: 23,824,831 (GRCm39) P96S probably damaging Het
Other mutations in Ncbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Ncbp3 APN 11 72,964,355 (GRCm39) splice site probably benign
R0180:Ncbp3 UTSW 11 72,955,804 (GRCm39) splice site probably null
R0464:Ncbp3 UTSW 11 72,960,647 (GRCm39) splice site probably benign
R0620:Ncbp3 UTSW 11 72,940,671 (GRCm39) splice site probably benign
R2024:Ncbp3 UTSW 11 72,944,346 (GRCm39) missense possibly damaging 0.95
R2121:Ncbp3 UTSW 11 72,944,304 (GRCm39) missense possibly damaging 0.56
R4610:Ncbp3 UTSW 11 72,969,844 (GRCm39) missense probably damaging 0.98
R4693:Ncbp3 UTSW 11 72,966,503 (GRCm39) missense probably benign 0.00
R4883:Ncbp3 UTSW 11 72,960,578 (GRCm39) missense probably damaging 0.99
R4974:Ncbp3 UTSW 11 72,944,355 (GRCm39) critical splice donor site probably null
R5212:Ncbp3 UTSW 11 72,944,373 (GRCm39) intron probably benign
R5740:Ncbp3 UTSW 11 72,944,323 (GRCm39) missense possibly damaging 0.88
R5906:Ncbp3 UTSW 11 72,964,327 (GRCm39) missense probably benign 0.04
R6026:Ncbp3 UTSW 11 72,958,548 (GRCm39) missense probably benign 0.00
R6154:Ncbp3 UTSW 11 72,940,700 (GRCm39) missense probably damaging 1.00
R6403:Ncbp3 UTSW 11 72,969,802 (GRCm39) missense probably benign 0.00
R6838:Ncbp3 UTSW 11 72,964,300 (GRCm39) missense possibly damaging 0.89
R7155:Ncbp3 UTSW 11 72,938,835 (GRCm39) missense probably damaging 0.99
R7369:Ncbp3 UTSW 11 72,968,747 (GRCm39) missense probably benign 0.00
R7587:Ncbp3 UTSW 11 72,957,591 (GRCm39) splice site probably null
R7657:Ncbp3 UTSW 11 72,964,193 (GRCm39) missense probably damaging 1.00
R8774:Ncbp3 UTSW 11 72,938,808 (GRCm39) missense probably benign
R8774-TAIL:Ncbp3 UTSW 11 72,938,808 (GRCm39) missense probably benign
R9063:Ncbp3 UTSW 11 72,964,253 (GRCm39) missense probably damaging 1.00
R9478:Ncbp3 UTSW 11 72,968,768 (GRCm39) missense probably damaging 0.99
R9513:Ncbp3 UTSW 11 72,938,727 (GRCm39) start codon destroyed probably null 0.95
R9670:Ncbp3 UTSW 11 72,944,323 (GRCm39) missense possibly damaging 0.88
R9762:Ncbp3 UTSW 11 72,961,668 (GRCm39) missense probably benign 0.35
Y5379:Ncbp3 UTSW 11 72,964,086 (GRCm39) small deletion probably benign
Z1177:Ncbp3 UTSW 11 72,938,794 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCATCCTTTCCTTCTACCAATGGAG -3'
(R):5'- CTGGGCTCAATCCTCAGTATTGAC -3'

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