Incidental Mutation 'R1641:Nufip1'
ID 173558
Institutional Source Beutler Lab
Gene Symbol Nufip1
Ensembl Gene ENSMUSG00000022009
Gene Name nuclear FMR1 interacting protein 1
Synonyms
MMRRC Submission 039677-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1641 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 76348331-76374819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 76363692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 305 (N305K)
Ref Sequence ENSEMBL: ENSMUSP00000022586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022586]
AlphaFold Q9QXX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000022586
AA Change: N305K

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: N305K

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,039,626 (GRCm39) T228S probably benign Het
Adamts2 C T 11: 50,683,612 (GRCm39) P965S probably damaging Het
Ankrd11 A G 8: 123,618,485 (GRCm39) I1768T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Baz2b A T 2: 59,743,234 (GRCm39) L1579Q probably damaging Het
Btbd7 A G 12: 102,757,034 (GRCm39) V684A probably damaging Het
Camk1g T A 1: 193,038,665 (GRCm39) I86F probably benign Het
Capn13 A T 17: 73,689,889 (GRCm39) S41T possibly damaging Het
Cep192 C A 18: 67,980,504 (GRCm39) L1422I probably damaging Het
Chaf1a T C 17: 56,354,380 (GRCm39) F217L unknown Het
Clca3b A T 3: 144,529,274 (GRCm39) M800K possibly damaging Het
Cplane1 A G 15: 8,258,443 (GRCm39) T2230A probably benign Het
Crocc A G 4: 140,744,388 (GRCm39) V1836A probably benign Het
Csmd2 G A 4: 128,377,188 (GRCm39) V2023M possibly damaging Het
Cul9 A G 17: 46,854,486 (GRCm39) V72A possibly damaging Het
Ddx52 T C 11: 83,834,269 (GRCm39) probably null Het
Dennd5b A C 6: 148,969,703 (GRCm39) V250G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gtpbp4 A T 13: 9,023,285 (GRCm39) M593K probably benign Het
Il21 A G 3: 37,286,681 (GRCm39) F12L probably benign Het
Lrit2 T A 14: 36,791,105 (GRCm39) N261K probably benign Het
Lrrc39 G T 3: 116,364,562 (GRCm39) C151F probably damaging Het
Lsm14a C A 7: 34,050,799 (GRCm39) R426L probably damaging Het
Maml1 G A 11: 50,157,774 (GRCm39) P134S probably benign Het
Map3k13 T C 16: 21,722,542 (GRCm39) C235R probably damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nsmaf T C 4: 6,409,884 (GRCm39) E663G probably benign Het
Ntrk3 T C 7: 78,005,822 (GRCm39) N513S probably damaging Het
Or10al5 C T 17: 38,062,916 (GRCm39) T57I possibly damaging Het
Or2ag1b T A 7: 106,288,918 (GRCm39) T7S probably benign Het
Or4c10b A T 2: 89,711,745 (GRCm39) T192S probably benign Het
Or51a6 T A 7: 102,604,175 (GRCm39) D218V probably benign Het
Or9r3 A T 10: 129,947,872 (GRCm39) Y262* probably null Het
Pi4ka A G 16: 17,194,894 (GRCm39) V168A probably benign Het
Prex2 T C 1: 11,301,996 (GRCm39) V1433A probably damaging Het
Prl7a1 A T 13: 27,817,612 (GRCm39) D217E probably damaging Het
Prr3 G A 17: 36,285,484 (GRCm39) R86* probably null Het
Ptprz1 T C 6: 23,049,605 (GRCm39) F1350L probably damaging Het
R3hcc1l T C 19: 42,552,046 (GRCm39) S348P possibly damaging Het
Rag2 A T 2: 101,459,960 (GRCm39) Q90L probably benign Het
Scel T C 14: 103,770,752 (GRCm39) L62P probably damaging Het
Serpini1 A T 3: 75,521,977 (GRCm39) E156V possibly damaging Het
Skint4 T A 4: 111,993,240 (GRCm39) I321K possibly damaging Het
Slc28a2 A G 2: 122,286,098 (GRCm39) D478G probably damaging Het
Sppl2b G T 10: 80,700,965 (GRCm39) V164F probably damaging Het
Traf5 T A 1: 191,729,470 (GRCm39) N527I probably benign Het
Ttc3 T A 16: 94,244,176 (GRCm39) D17E probably benign Het
Txlnb G A 10: 17,682,521 (GRCm39) A148T possibly damaging Het
Ubtf A G 11: 102,201,757 (GRCm39) Y256H probably damaging Het
Usp25 T C 16: 76,868,559 (GRCm39) F320S possibly damaging Het
Utp14b T C 1: 78,643,656 (GRCm39) V518A probably benign Het
Utp20 A G 10: 88,593,834 (GRCm39) V2192A possibly damaging Het
Vmn1r173 T A 7: 23,402,533 (GRCm39) M256K probably benign Het
Vmn2r114 T A 17: 23,515,962 (GRCm39) M510L probably benign Het
Xdh T A 17: 74,233,547 (GRCm39) Q189L probably benign Het
Zfat C T 15: 68,051,959 (GRCm39) A605T 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
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'- TGCCAGTGATGGCACAACAGAG -3'
(R):5'- AAAGTGAACTGCTTGGTCCTGAGG -3'

Sequencing Primer
(F):5'- GGCACAACAGAGCCCTATTTTAG -3'
(R):5'- acccaaagcacacggag -3'
Posted On 2014-04-24