Incidental Mutation 'IGL01361:Nufip2'
ID75744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nufip2
Ensembl Gene ENSMUSG00000037857
Gene Namenuclear fragile X mental retardation protein interacting protein 2
Synonyms9530056D24Rik, 1110001M19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #IGL01361
Quality Score
Status
Chromosome11
Chromosomal Location77686155-77741921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77692370 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 370 (V370E)
Ref Sequence ENSEMBL: ENSMUSP00000137922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100802] [ENSMUST00000181023]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100802
AA Change: V370E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098365
Gene: ENSMUSG00000037857
AA Change: V370E

DomainStartEndE-ValueType
low complexity region 7 61 N/A INTRINSIC
Pfam:NUFIP2 90 685 2.4e-292 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155238
Predicted Effect possibly damaging
Transcript: ENSMUST00000181023
AA Change: V370E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857
AA Change: V370E

DomainStartEndE-ValueType
low complexity region 7 61 N/A INTRINSIC
Pfam:NUFIP2 89 681 7e-293 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Nufip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0646:Nufip2 UTSW 11 77686453 missense probably benign 0.33
R0667:Nufip2 UTSW 11 77692013 missense possibly damaging 0.94
R1544:Nufip2 UTSW 11 77691907 missense possibly damaging 0.57
R1546:Nufip2 UTSW 11 77691606 missense probably damaging 0.99
R1629:Nufip2 UTSW 11 77693008 missense probably benign 0.03
R1719:Nufip2 UTSW 11 77693090 missense probably damaging 1.00
R1864:Nufip2 UTSW 11 77692298 missense probably damaging 1.00
R3855:Nufip2 UTSW 11 77692889 missense probably damaging 0.97
R4489:Nufip2 UTSW 11 77686229 start codon destroyed probably null
R4584:Nufip2 UTSW 11 77741728 missense unknown
R4585:Nufip2 UTSW 11 77741728 missense unknown
R4586:Nufip2 UTSW 11 77741728 missense unknown
R4779:Nufip2 UTSW 11 77686328 missense unknown
R5111:Nufip2 UTSW 11 77691843 missense probably benign 0.01
R5354:Nufip2 UTSW 11 77686277 missense unknown
R6051:Nufip2 UTSW 11 77691916 missense probably damaging 1.00
R6324:Nufip2 UTSW 11 77691661 missense probably benign
R6505:Nufip2 UTSW 11 77691613 missense probably benign 0.36
R6941:Nufip2 UTSW 11 77686296 small deletion probably benign
R7237:Nufip2 UTSW 11 77692770 missense probably benign 0.00
Posted On2013-10-07