Incidental Mutation 'R2121:Ncbp3'
ID 231463
Institutional Source Beutler Lab
Gene Symbol Ncbp3
Ensembl Gene ENSMUSG00000020783
Gene Name nuclear cap binding subunit 3
Synonyms 1200014J11Rik
MMRRC Submission 040125-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R2121 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 72937443-72974405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72944304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 102 (V102A)
Ref Sequence ENSEMBL: ENSMUSP00000021135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021135]
AlphaFold Q8BZR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021135
AA Change: V102A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021135
Gene: ENSMUSG00000020783
AA Change: V102A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151823
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adnp2 A G 18: 80,172,385 (GRCm39) F675L probably benign Het
Akna G A 4: 63,295,137 (GRCm39) T1024I probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Aox3 T C 1: 58,191,708 (GRCm39) probably benign Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef26 A T 3: 62,247,704 (GRCm39) N263Y probably damaging Het
Arpp21 A G 9: 111,965,738 (GRCm39) S375P probably damaging Het
Bscl2 G T 19: 8,817,146 (GRCm39) E25* probably null Het
Ccl12 T A 11: 81,992,776 (GRCm39) S17R probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Ceacam9 T A 7: 16,455,928 (GRCm39) F12I probably benign Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Cldn23 A G 8: 36,293,389 (GRCm39) V33A probably benign Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Col20a1 G C 2: 180,638,249 (GRCm39) A346P probably damaging Het
Col6a3 T C 1: 90,738,087 (GRCm39) D537G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Diaph1 A T 18: 38,029,442 (GRCm39) M330K unknown Het
Dnah5 C T 15: 28,297,151 (GRCm39) probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancl G T 11: 26,409,841 (GRCm39) probably benign Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gstm7 T C 3: 107,834,230 (GRCm39) M175V probably benign Het
Hcn4 T C 9: 58,731,341 (GRCm39) S183P unknown Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Kdm3b T C 18: 34,929,833 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Lyst A G 13: 13,835,556 (GRCm39) Y1746C probably damaging Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mlc1 A G 15: 88,847,634 (GRCm39) Y305H probably benign Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Muc4 A G 16: 32,580,612 (GRCm39) Y2474C unknown Het
Mybphl A C 3: 108,282,492 (GRCm39) N175T probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Odad4 T A 11: 100,457,837 (GRCm39) probably null Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Or8j3 T A 2: 86,028,340 (GRCm39) Y252F possibly damaging Het
Palb2 T C 7: 121,727,004 (GRCm39) T289A possibly damaging Het
Pde10a A T 17: 9,196,047 (GRCm39) Q657L probably damaging Het
Ppp2r2a A T 14: 67,260,577 (GRCm39) F234I probably damaging Het
Prl3c1 T A 13: 27,383,325 (GRCm39) probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Serpina3m A G 12: 104,355,941 (GRCm39) M203V possibly damaging Het
Slc6a21 A T 7: 44,937,886 (GRCm39) I726F probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tfdp2 T C 9: 96,177,067 (GRCm39) S75P probably damaging Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmed11 G A 5: 108,943,198 (GRCm39) probably benign Het
Tmem81 C A 1: 132,435,847 (GRCm39) Q218K probably benign Het
Tnfsf11 G A 14: 78,537,333 (GRCm39) T110I probably benign Het
Tub G A 7: 108,625,944 (GRCm39) G232S probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,315,880 (GRCm39) T621A probably benign Het
Ythdf3 T C 3: 16,259,356 (GRCm39) F501S possibly 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
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
R6626:Ncbp3 UTSW 11 72,964,210 (GRCm39) missense possibly damaging 0.88
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'- GCTATGCATGTCCAGTTTTCTG -3'
(R):5'- CTGACAGCGTCTCACATTTAC -3'

Sequencing Primer
(F):5'- TCTGCAAAACACATTCAAGGTTGC -3'
(R):5'- AAGGTGATGTTAGAACCCCTTCC -3'
Posted On 2014-09-18