Incidental Mutation 'R5212:Nufip1'
ID 403203
Institutional Source Beutler Lab
Gene Symbol Nufip1
Ensembl Gene ENSMUSG00000022009
Gene Name nuclear FMR1 interacting protein 1
Synonyms
MMRRC Submission 042786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5212 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 76348331-76374819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76370538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 413 (N413I)
Ref Sequence ENSEMBL: ENSMUSP00000022586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022586]
AlphaFold Q9QXX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000022586
AA Change: N413I

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: N413I

DomainStartEndE-ValueType
low complexity region 38 48 N/A INTRINSIC
low complexity region 80 99 N/A INTRINSIC
ZnF_C2H2 165 187 3.58e-2 SMART
ZnF_C2H2 188 212 5.4e1 SMART
low complexity region 291 304 N/A INTRINSIC
Meta Mutation Damage Score 0.1150 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S probably benign Het
Other mutations in Nufip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03035:Nufip1 APN 14 76,353,258 (GRCm39) missense probably damaging 1.00
R0748:Nufip1 UTSW 14 76,348,508 (GRCm39) missense probably damaging 1.00
R1576:Nufip1 UTSW 14 76,372,310 (GRCm39) missense probably benign 0.00
R1641:Nufip1 UTSW 14 76,363,692 (GRCm39) missense possibly damaging 0.55
R1992:Nufip1 UTSW 14 76,372,287 (GRCm39) missense probably damaging 1.00
R5093:Nufip1 UTSW 14 76,348,413 (GRCm39) missense probably benign 0.12
R5191:Nufip1 UTSW 14 76,349,429 (GRCm39) missense probably damaging 1.00
R5282:Nufip1 UTSW 14 76,351,715 (GRCm39) critical splice donor site probably null
R5635:Nufip1 UTSW 14 76,363,586 (GRCm39) missense probably damaging 1.00
R5916:Nufip1 UTSW 14 76,372,340 (GRCm39) makesense probably null
R5990:Nufip1 UTSW 14 76,351,628 (GRCm39) missense probably damaging 0.99
R6328:Nufip1 UTSW 14 76,348,494 (GRCm39) missense possibly damaging 0.62
R6333:Nufip1 UTSW 14 76,349,425 (GRCm39) missense probably damaging 1.00
R6697:Nufip1 UTSW 14 76,370,513 (GRCm39) missense probably benign 0.09
R7129:Nufip1 UTSW 14 76,372,325 (GRCm39) missense possibly damaging 0.82
R7585:Nufip1 UTSW 14 76,348,427 (GRCm39) missense probably benign 0.02
R7670:Nufip1 UTSW 14 76,349,414 (GRCm39) frame shift probably null
R7848:Nufip1 UTSW 14 76,351,661 (GRCm39) missense probably damaging 1.00
R7912:Nufip1 UTSW 14 76,352,442 (GRCm39) missense possibly damaging 0.90
R7982:Nufip1 UTSW 14 76,363,679 (GRCm39) missense probably benign
R8202:Nufip1 UTSW 14 76,348,604 (GRCm39) missense probably benign 0.03
R9141:Nufip1 UTSW 14 76,370,413 (GRCm39) missense possibly damaging 0.92
R9558:Nufip1 UTSW 14 76,348,481 (GRCm39) missense probably benign 0.34
X0067:Nufip1 UTSW 14 76,368,301 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTGGGAGAGTTAGTGCAC -3'
(R):5'- AGCCTTAGGAGCAAGACGTG -3'

Sequencing Primer
(F):5'- CTGGGAGAGTTAGTGCACCTTTTG -3'
(R):5'- GTGCACAAAGAACACACGTAG -3'
Posted On 2016-07-22