Incidental Mutation 'R8202:Nufip1'
ID 635731
Institutional Source Beutler Lab
Gene Symbol Nufip1
Ensembl Gene ENSMUSG00000022009
Gene Name nuclear FMR1 interacting protein 1
Synonyms
MMRRC Submission 067625-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8202 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 76348331-76374819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76348604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 78 (I78V)
Ref Sequence ENSEMBL: ENSMUSP00000022586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022585] [ENSMUST00000022586]
AlphaFold Q9QXX8
Predicted Effect probably benign
Transcript: ENSMUST00000022585
SMART Domains Protein: ENSMUSP00000022585
Gene: ENSMUSG00000022008

DomainStartEndE-ValueType
low complexity region 41 67 N/A INTRINSIC
low complexity region 105 117 N/A INTRINSIC
Pfam:DUF3752 202 338 8.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022586
AA Change: I78V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022586
Gene: ENSMUSG00000022009
AA Change: I78V

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (50/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,057 (GRCm39) R36C probably benign Het
B020011L13Rik A T 1: 117,728,874 (GRCm39) H127L probably damaging Het
B4galt4 A G 16: 38,588,274 (GRCm39) Q306R probably benign Het
Bckdha G A 7: 25,329,738 (GRCm39) H431Y probably damaging Het
Cacna1e T A 1: 154,274,195 (GRCm39) M2256L probably benign Het
Ccar1 A T 10: 62,607,768 (GRCm39) F298L possibly damaging Het
Ceacam3 G A 7: 16,896,953 (GRCm39) A640T Het
Cers3 A G 7: 66,435,761 (GRCm39) D240G probably damaging Het
Ces1d T C 8: 93,919,495 (GRCm39) E99G probably benign Het
Dnah2 A G 11: 69,369,649 (GRCm39) V1609A probably benign Het
Fer1l6 T C 15: 58,502,486 (GRCm39) F1329S probably damaging Het
Fry A G 5: 150,355,202 (GRCm39) Q1825R probably damaging Het
Guf1 C A 5: 69,720,545 (GRCm39) A335E possibly damaging Het
Heatr6 C A 11: 83,650,234 (GRCm39) T230K possibly damaging Het
Klhl11 G A 11: 100,354,150 (GRCm39) S557L probably benign Het
Map10 A G 8: 126,397,647 (GRCm39) N347D possibly damaging Het
Myh7 T C 14: 55,227,497 (GRCm39) I313V probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nmral1 G A 16: 4,532,448 (GRCm39) T131M probably damaging Het
Npr1 T A 3: 90,368,731 (GRCm39) Y443F probably benign Het
Ntn4 A G 10: 93,480,765 (GRCm39) N163S possibly damaging Het
Oplah C T 15: 76,186,669 (GRCm39) G670D probably benign Het
Or51a24 A G 7: 103,734,198 (GRCm39) S30P probably benign Het
Or5j3 A T 2: 86,128,968 (GRCm39) E269D probably benign Het
Or6c69b T C 10: 129,626,518 (GRCm39) *313W probably null Het
Pcnx1 T G 12: 81,941,821 (GRCm39) I73S probably benign Het
Pigp A T 16: 94,165,528 (GRCm39) N204K probably benign Het
Prelid2 T A 18: 42,065,802 (GRCm39) I78F possibly damaging Het
Ptprb A G 10: 116,189,750 (GRCm39) Y1516C probably damaging Het
Rab31 T C 17: 65,974,881 (GRCm39) E157G probably damaging Het
Rars2 T C 4: 34,656,180 (GRCm39) Y445H probably damaging Het
Rnf220 T A 4: 117,347,070 (GRCm39) H114L probably damaging Het
Ryr1 A G 7: 28,790,457 (GRCm39) W1450R probably benign Het
Slamf6 A G 1: 171,761,786 (GRCm39) Y69C probably benign Het
Smc3 T C 19: 53,617,123 (GRCm39) I512T possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
St3gal3 T A 4: 117,964,868 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,011,917 (GRCm39) F338L probably damaging Het
Tgs1 G A 4: 3,586,097 (GRCm39) A325T probably benign Het
Tmem30a A T 9: 79,681,494 (GRCm39) I261K probably damaging Het
Trim3 A T 7: 105,260,632 (GRCm39) H662Q possibly damaging Het
Unc13c C T 9: 73,643,844 (GRCm39) V1207M probably damaging Het
Vmn1r91 A T 7: 19,835,749 (GRCm39) I223F probably damaging Het
Vmn2r33 A T 7: 7,557,153 (GRCm39) C516S possibly damaging Het
Vps13c T C 9: 67,851,328 (GRCm39) V2321A probably damaging Het
Zan G T 5: 137,387,589 (GRCm39) T4874K unknown Het
Zfp677 T C 17: 21,613,535 (GRCm39) L43S probably damaging Het
Zfp709 A G 8: 72,642,760 (GRCm39) probably null 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
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
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'- ACAGTTGCACTTTGGGCTC -3'
(R):5'- ACTAGGAACTGCAGCTTACCC -3'

Sequencing Primer
(F):5'- TAGGTGGCATGGCTGAACC -3'
(R):5'- ACTGCAGCTTACCCGGAGATTG -3'
Posted On 2020-07-13