Incidental Mutation 'IGL01469:Nrbf2'
ID88221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrbf2
Ensembl Gene ENSMUSG00000075000
Gene Namenuclear receptor binding factor 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.523) question?
Stock #IGL01469
Quality Score
Status
Chromosome10
Chromosomal Location67266689-67285305 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 67270140 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 41 (L41P)
Ref Sequence ENSEMBL: ENSMUSP00000097254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077839] [ENSMUST00000159002]
PDB Structure
Solution structure of MIT domain from mouse NRBF-2 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000077839
AA Change: L41P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097254
Gene: ENSMUSG00000075000
AA Change: L41P

DomainStartEndE-ValueType
Pfam:DUF1875 45 285 2.1e-124 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159002
AA Change: S57P
SMART Domains Protein: ENSMUSP00000125678
Gene: ENSMUSG00000075000
AA Change: S57P

DomainStartEndE-ValueType
PDB:2CRB|A 4 39 2e-20 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,528,622 Q204R possibly damaging Het
Actn2 C T 13: 12,310,910 E60K possibly damaging Het
Alpk1 T C 3: 127,677,752 probably null Het
Ccdc107 A G 4: 43,495,751 N218S probably benign Het
Cdh23 A T 10: 60,597,725 M60K probably benign Het
Cenpe A G 3: 135,228,806 Q378R probably damaging Het
Dnah8 T A 17: 30,683,714 probably benign Het
Eif2b4 T C 5: 31,187,767 D190G probably benign Het
Fmo5 A G 3: 97,651,568 N448S probably benign Het
Gal3st2c A G 1: 94,009,317 N328S probably benign Het
Gbf1 A T 19: 46,279,364 E1271V probably damaging Het
Ifitm6 A T 7: 141,016,812 V16D probably damaging Het
Ighv2-4 A G 12: 113,653,346 probably null Het
Kng2 T A 16: 22,999,827 K305I probably damaging Het
Lrp1 C T 10: 127,584,414 R900Q probably damaging Het
Maml1 A G 11: 50,266,526 M274T probably damaging Het
Med23 A G 10: 24,882,597 E278G probably damaging Het
Myo1h A G 5: 114,361,269 T164A probably damaging Het
Ncoa2 A T 1: 13,186,869 S135R probably benign Het
Olfr108 T A 17: 37,445,535 S5T probably benign Het
Olfr341 T C 2: 36,479,824 Y102C probably benign Het
Olfr514 A G 7: 108,825,327 V224A probably benign Het
Olfr678 T A 7: 105,070,388 M307K probably benign Het
Olfr782 A G 10: 129,350,580 M6V probably benign Het
Otoa T C 7: 121,155,273 probably null Het
Pih1d3 A T 1: 31,223,429 D164V probably damaging Het
Plxnb1 T C 9: 109,105,415 probably benign Het
Ppp1r42 A T 1: 10,003,233 probably null Het
Rad54l2 T A 9: 106,722,758 K100M probably damaging Het
Rnf112 T A 11: 61,451,341 T308S possibly damaging Het
Scaper T C 9: 55,859,767 D466G probably damaging Het
Sgsm2 T A 11: 74,853,871 I796L possibly damaging Het
Shank3 T C 15: 89,521,274 L476P probably damaging Het
Shkbp1 T C 7: 27,355,941 T6A probably benign Het
Slc14a2 A T 18: 78,155,566 I783N probably damaging Het
Stat1 A G 1: 52,147,370 D447G possibly damaging Het
Tekt3 T G 11: 63,073,468 I208S probably damaging Het
Tenm3 A T 8: 48,236,423 V2043E probably damaging Het
Tgm3 T C 2: 130,024,494 Y111H probably damaging Het
Tph2 T A 10: 115,079,759 R459* probably null Het
Vmn2r109 T C 17: 20,541,409 Y562C probably damaging Het
Other mutations in Nrbf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0602:Nrbf2 UTSW 10 67267826 missense probably damaging 0.98
R1104:Nrbf2 UTSW 10 67267912 missense possibly damaging 0.84
R1381:Nrbf2 UTSW 10 67267826 missense probably damaging 0.98
R2034:Nrbf2 UTSW 10 67275564 splice site probably benign
R5479:Nrbf2 UTSW 10 67285091 splice site probably null
R5945:Nrbf2 UTSW 10 67267520 missense possibly damaging 0.86
R7269:Nrbf2 UTSW 10 67267826 missense probably damaging 0.98
Posted On2013-11-18