Incidental Mutation 'R1576:Nufip1'
ID 171182
Institutional Source Beutler Lab
Gene Symbol Nufip1
Ensembl Gene ENSMUSG00000022009
Gene Name nuclear FMR1 interacting protein 1
Synonyms
MMRRC Submission 039614-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1576 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 76348331-76374819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76372310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 475 (N475D)
Ref Sequence ENSEMBL: ENSMUSP00000022586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022586]
AlphaFold Q9QXX8
Predicted Effect probably benign
Transcript: ENSMUST00000022586
AA Change: N475D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: N475D

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 G A 8: 23,298,483 (GRCm39) probably benign Het
Apol11a T A 15: 77,401,131 (GRCm39) I206N probably damaging Het
Arfgap3 A G 15: 83,197,764 (GRCm39) S331P possibly damaging Het
Arhgef16 A C 4: 154,375,769 (GRCm39) L75R probably damaging Het
Cfi T C 3: 129,666,699 (GRCm39) V474A probably damaging Het
Dhx8 T C 11: 101,643,145 (GRCm39) V739A probably damaging Het
Dpy19l2 T A 9: 24,495,798 (GRCm39) H640L probably benign Het
Eif4g3 T A 4: 137,824,181 (GRCm39) M57K probably damaging Het
Emilin2 A G 17: 71,562,112 (GRCm39) probably null Het
Epc1 T C 18: 6,452,366 (GRCm39) E281G possibly damaging Het
Fancd2 G T 6: 113,555,366 (GRCm39) S1125I probably damaging Het
Fh1 G A 1: 175,435,385 (GRCm39) P366L probably null Het
Gata3 A T 2: 9,868,007 (GRCm39) S316T probably damaging Het
Hmcn1 A T 1: 150,532,992 (GRCm39) S3064T possibly damaging Het
Inpp5d A T 1: 87,597,407 (GRCm39) T193S probably benign Het
Inpp5d A T 1: 87,609,280 (GRCm39) I277F probably damaging Het
Itga5 T C 15: 103,260,044 (GRCm39) D616G probably damaging Het
Jade1 T A 3: 41,546,242 (GRCm39) V89E probably damaging Het
Lamb2 T C 9: 108,357,506 (GRCm39) S81P probably damaging Het
Lrrc19 G A 4: 94,527,590 (GRCm39) P207L probably damaging Het
Maea A G 5: 33,520,040 (GRCm39) D147G probably damaging Het
Muc6 T A 7: 141,214,437 (GRCm39) E2767V possibly damaging Het
Myom2 A G 8: 15,134,556 (GRCm39) Y453C probably damaging Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,330,681 (GRCm39) D362G probably damaging Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nudt21 A C 8: 94,755,461 (GRCm39) probably null Het
Pcdhb8 A G 18: 37,489,756 (GRCm39) D478G probably damaging Het
Pla2g4d A G 2: 120,114,648 (GRCm39) S28P probably damaging Het
Polr2j C A 5: 136,148,882 (GRCm39) N29K probably damaging Het
Ppp2r2a A G 14: 67,276,318 (GRCm39) probably benign Het
Ptprk A G 10: 28,427,647 (GRCm39) D742G probably damaging Het
Pum2 A G 12: 8,763,524 (GRCm39) D227G probably benign Het
Rfxank C A 8: 70,586,953 (GRCm39) R221L possibly damaging Het
Shank3 C A 15: 89,387,866 (GRCm39) Q317K probably benign Het
Slc22a17 A G 14: 55,145,447 (GRCm39) V460A probably damaging Het
Slc39a11 G T 11: 113,450,361 (GRCm39) D41E probably damaging Het
Spag17 T C 3: 99,846,679 (GRCm39) S68P possibly damaging Het
Sstr5 C T 17: 25,710,272 (GRCm39) C319Y possibly damaging Het
Stk17b G T 1: 53,796,749 (GRCm39) D339E probably damaging Het
Tagln2 A G 1: 172,332,788 (GRCm39) D25G probably benign Het
Ttn C T 2: 76,625,194 (GRCm39) V13417I probably benign Het
Vps50 A G 6: 3,545,568 (GRCm39) E334G possibly damaging Het
Zfp316 T C 5: 143,249,849 (GRCm39) E138G unknown Het
Zfp879 T A 11: 50,724,376 (GRCm39) T227S 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
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
R5212:Nufip1 UTSW 14 76,370,538 (GRCm39) missense possibly damaging 0.72
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'- TCCCTAAAGAGGAGCCAGTGTGAAC -3'
(R):5'- ATCCAACATGACGCCCATGAGG -3'

Sequencing Primer
(F):5'- tctgataaacctgtcttactagcc -3'
(R):5'- AGGCTTCCAGTTCAATTACTGATCC -3'
Posted On 2014-04-13