Incidental Mutation 'IGL01700:Nrip3'
ID104433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrip3
Ensembl Gene ENSMUSG00000034825
Gene Namenuclear receptor interacting protein 3
SynonymsICRFP703N2430Q5.2, ICRFP703B1614Q5.2, A330103B05Rik, D7H11orf14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01700
Quality Score
Status
Chromosome7
Chromosomal Location109758055-109782025 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109761867 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 200 (N200I)
Ref Sequence ENSEMBL: ENSMUSP00000044116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033331] [ENSMUST00000041460] [ENSMUST00000207400]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033331
AA Change: N189I

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033331
Gene: ENSMUSG00000034825
AA Change: N189I

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
Pfam:Asp_protease 86 208 6e-16 PFAM
Pfam:Asp_protease_2 109 201 3.4e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000041460
AA Change: N200I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044116
Gene: ENSMUSG00000034825
AA Change: N200I

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
Pfam:Asp_protease 97 219 9.7e-16 PFAM
Pfam:Asp_protease_2 120 214 1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207400
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Diexf G A 1: 193,118,265 P416S probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
F7 C A 8: 13,028,685 Q39K probably benign Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Olfr818 A T 10: 129,945,941 N40K probably damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Plxdc2 T C 2: 16,512,115 V69A probably benign Het
Pou3f1 G T 4: 124,658,857 W384L probably damaging Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Pvr C A 7: 19,909,232 A359S probably benign Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in Nrip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02253:Nrip3 APN 7 109761744 splice site probably null
PIT4696001:Nrip3 UTSW 7 109765507 nonsense probably null
R0140:Nrip3 UTSW 7 109761815 unclassified probably benign
R1179:Nrip3 UTSW 7 109763555 missense probably damaging 1.00
R1828:Nrip3 UTSW 7 109766556 missense probably benign 0.00
R5488:Nrip3 UTSW 7 109761838 missense probably damaging 1.00
R5489:Nrip3 UTSW 7 109761838 missense probably damaging 1.00
R6282:Nrip3 UTSW 7 109763479 splice site probably null
R7134:Nrip3 UTSW 7 109765488 missense probably damaging 0.99
R8414:Nrip3 UTSW 7 109763528 missense possibly damaging 0.72
Z1177:Nrip3 UTSW 7 109766575 missense probably benign 0.34
Posted On2014-01-21