Incidental Mutation 'IGL03368:Nutf2'
ID 420184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nutf2
Ensembl Gene ENSMUSG00000008450
Gene Name nuclear transport factor 2
Synonyms PP15, Ntf2, 2700067I02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03368
Quality Score
Status
Chromosome 8
Chromosomal Location 106587212-106605962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106602232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 14 (F14S)
Ref Sequence ENSEMBL: ENSMUSP00000148713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008594] [ENSMUST00000212042] [ENSMUST00000212200] [ENSMUST00000212484] [ENSMUST00000212610]
AlphaFold P61971
Predicted Effect probably damaging
Transcript: ENSMUST00000008594
AA Change: F14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008594
Gene: ENSMUSG00000008450
AA Change: F14S

DomainStartEndE-ValueType
Pfam:NTF2 10 121 1e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212042
AA Change: F14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212200
AA Change: F14S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212398
Predicted Effect probably damaging
Transcript: ENSMUST00000212484
AA Change: F14S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000212610
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,380,530 (GRCm39) noncoding transcript Het
Abca5 A G 11: 110,204,348 (GRCm39) probably benign Het
Agxt2 T A 15: 10,388,256 (GRCm39) C278* probably null Het
Ankar A G 1: 72,714,972 (GRCm39) L384P probably damaging Het
Ankrd55 T C 13: 112,455,090 (GRCm39) probably benign Het
Ap5m1 A G 14: 49,318,593 (GRCm39) probably benign Het
Arhgap18 C T 10: 26,648,689 (GRCm39) S37F possibly damaging Het
Btnl10 G A 11: 58,810,212 (GRCm39) V118I possibly damaging Het
Chst11 C A 10: 82,927,980 (GRCm39) P66T probably benign Het
Cited2 C A 10: 17,599,944 (GRCm39) P84Q possibly damaging Het
Cplane1 T C 15: 8,251,857 (GRCm39) V1914A probably benign Het
Dpy19l4 T A 4: 11,290,253 (GRCm39) I302F possibly damaging Het
Ece2 A G 16: 20,462,908 (GRCm39) E640G possibly damaging Het
Fam184b T C 5: 45,689,166 (GRCm39) D890G possibly damaging Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Foxp2 A G 6: 15,394,717 (GRCm39) K139R probably damaging Het
Gle1 T C 2: 29,833,805 (GRCm39) C401R probably damaging Het
Gp2 A T 7: 119,052,097 (GRCm39) C206S probably damaging Het
Hdgfl2 G T 17: 56,386,746 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,539,623 (GRCm39) N2956S probably damaging Het
Ifi209 A G 1: 173,470,057 (GRCm39) Q215R possibly damaging Het
Il20rb C T 9: 100,341,174 (GRCm39) probably benign Het
Katnip T C 7: 125,468,030 (GRCm39) probably benign Het
Kif26b A C 1: 178,743,773 (GRCm39) S1290R probably damaging Het
Mical1 A G 10: 41,355,625 (GRCm39) I156M probably damaging Het
Nbas C T 12: 13,378,452 (GRCm39) A613V probably benign Het
Nbea C T 3: 55,987,351 (GRCm39) V380M probably damaging Het
Or4c35 A T 2: 89,808,133 (GRCm39) I4L probably benign Het
Or52r1b T A 7: 102,690,972 (GRCm39) H95Q possibly damaging Het
Parp1 A G 1: 180,408,187 (GRCm39) E236G probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Ptcd2 T A 13: 99,466,577 (GRCm39) probably benign Het
Pygl T C 12: 70,237,926 (GRCm39) Q704R probably benign Het
Scaper A T 9: 55,563,311 (GRCm39) S492T possibly damaging Het
Sephs1 G A 2: 4,894,080 (GRCm39) D94N possibly damaging Het
Slc22a29 A C 19: 8,184,626 (GRCm39) probably null Het
Slc22a8 G T 19: 8,586,483 (GRCm39) probably benign Het
Slfn5 A G 11: 82,847,211 (GRCm39) D32G possibly damaging Het
Sphkap T A 1: 83,253,397 (GRCm39) T1451S probably benign Het
Srp54a A C 12: 55,138,051 (GRCm39) E63A probably null Het
Stap1 T A 5: 86,238,827 (GRCm39) I165N probably damaging Het
Terf2 T C 8: 107,797,181 (GRCm39) E494G probably damaging Het
Trak1 C A 9: 121,196,188 (GRCm39) L7I possibly damaging Het
Twnk T C 19: 44,998,931 (GRCm39) V557A probably damaging Het
U2af2 T A 7: 5,070,263 (GRCm39) probably benign Het
Ube2j1 T A 4: 33,038,317 (GRCm39) I75N probably damaging Het
Ubr5 A G 15: 37,998,560 (GRCm39) V1643A probably damaging Het
Vsx2 A G 12: 84,617,074 (GRCm39) T120A probably benign Het
Other mutations in Nutf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4340:Nutf2 UTSW 8 106,603,202 (GRCm39) missense probably damaging 1.00
R0064:Nutf2 UTSW 8 106,605,441 (GRCm39) missense probably damaging 0.98
R0329:Nutf2 UTSW 8 106,602,995 (GRCm39) missense probably damaging 1.00
R0377:Nutf2 UTSW 8 106,605,504 (GRCm39) missense probably damaging 1.00
R1842:Nutf2 UTSW 8 106,603,242 (GRCm39) critical splice donor site probably null
R4488:Nutf2 UTSW 8 106,603,059 (GRCm39) critical splice donor site probably null
R6562:Nutf2 UTSW 8 106,602,258 (GRCm39) missense probably benign 0.26
R8794:Nutf2 UTSW 8 106,602,171 (GRCm39) start gained probably benign
Posted On 2016-08-02