Incidental Mutation 'IGL02994:Nbr1'
ID 407059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nbr1
Ensembl Gene ENSMUSG00000017119
Gene Name NBR1, autophagy cargo receptor
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02994
Quality Score
Status
Chromosome 11
Chromosomal Location 101442975-101472777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101447053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 13 (N13I)
Ref Sequence ENSEMBL: ENSMUSP00000102836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000071537] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107208] [ENSMUST00000107212] [ENSMUST00000127421] [ENSMUST00000107213] [ENSMUST00000107218] [ENSMUST00000147239] [ENSMUST00000123558] [ENSMUST00000136185] [ENSMUST00000190862] [ENSMUST00000142086]
AlphaFold P97432
Predicted Effect probably benign
Transcript: ENSMUST00000017290
SMART Domains Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
RING 24 64 1.82e-7 SMART
Pfam:BRCT_assoc 342 503 2.6e-69 PFAM
low complexity region 1173 1185 N/A INTRINSIC
Blast:BRCT 1343 1406 2e-16 BLAST
low complexity region 1555 1575 N/A INTRINSIC
BRCT 1587 1669 3.87e-11 SMART
BRCT 1700 1787 3.42e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071537
AA Change: N13I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 2.05e-8 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
Pfam:N_BRCA1_IG 378 479 7.1e-34 PFAM
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
PDB:2MJ5|B 935 981 2e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000103098
AA Change: N13I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 5e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
PDB:2MJ5|B 935 981 2e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000103099
AA Change: N13I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 5e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
PDB:2MJ5|B 935 981 2e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000107208
AA Change: N13I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 1e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107212
AA Change: N13I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 3e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 689 719 N/A INTRINSIC
PDB:2MJ5|B 910 956 2e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000127421
AA Change: N13I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000107213
AA Change: N13I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 2e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 677 707 N/A INTRINSIC
PDB:2MJ5|B 898 944 2e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000107218
AA Change: N13I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 5e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
PDB:2MJ5|B 935 981 2e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000147239
AA Change: N13I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000123558
AA Change: N13I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: N13I

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 2e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000136185
AA Change: N13I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184092
Predicted Effect probably benign
Transcript: ENSMUST00000190862
SMART Domains Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
SCOP:d1jm7a_ 1 56 1e-6 SMART
PDB:1JM7|A 1 63 1e-30 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000142086
SMART Domains Protein: ENSMUSP00000139813
Gene: ENSMUSG00000017146

DomainStartEndE-ValueType
RING 24 64 8.6e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice of the genetic truncation allele had an age-dependent increase in bone mass and bone mineral density. Mice homozygous for a floxed allele activated in T cells exhibit decreased ovalbumin-induced inflammation and defective Th2 polarization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,186,602 (GRCm39) probably benign Het
Ahnak2 A G 12: 112,749,827 (GRCm39) V137A probably damaging Het
Alk G T 17: 72,256,815 (GRCm39) F681L probably benign Het
Ankrd35 T C 3: 96,590,307 (GRCm39) probably benign Het
Aqp3 A T 4: 41,093,614 (GRCm39) C267S probably benign Het
Arl13b T A 16: 62,632,366 (GRCm39) I76F probably damaging Het
Ccn2 T A 10: 24,472,763 (GRCm39) N224K probably damaging Het
Cdc42bpa G T 1: 179,827,002 (GRCm39) R85L probably damaging Het
Dock4 T G 12: 40,829,159 (GRCm39) I1015R probably damaging Het
Dst A G 1: 34,268,333 (GRCm39) probably benign Het
Egfr T C 11: 16,861,811 (GRCm39) Y1197H probably damaging Het
Endod1 A G 9: 14,268,183 (GRCm39) V434A possibly damaging Het
Exosc9 A G 3: 36,607,287 (GRCm39) probably benign Het
Fgg G T 3: 82,915,781 (GRCm39) R74L probably benign Het
Fmo2 A T 1: 162,708,189 (GRCm39) D315E probably damaging Het
H2-M3 G A 17: 37,581,629 (GRCm39) S97N probably benign Het
Ighv14-2 T A 12: 113,958,211 (GRCm39) T77S probably benign Het
Klhl9 A T 4: 88,639,434 (GRCm39) L269* probably null Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Macroh2a1 T C 13: 56,252,112 (GRCm39) probably benign Het
Mkln1 T C 6: 31,467,378 (GRCm39) S31P probably damaging Het
Nacad A G 11: 6,549,528 (GRCm39) L1221P possibly damaging Het
Ndfip1 T C 18: 38,585,469 (GRCm39) I161T probably damaging Het
Nsg1 A G 5: 38,312,946 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,113,232 (GRCm39) T430K probably damaging Het
Serpina6 A G 12: 103,620,210 (GRCm39) S180P probably benign Het
Slc4a5 T C 6: 83,249,106 (GRCm39) L570P probably damaging Het
Tank A G 2: 61,480,636 (GRCm39) probably benign Het
Tpd52 A G 3: 9,012,590 (GRCm39) F76L probably benign Het
Ubox5 A C 2: 130,442,237 (GRCm39) L150R probably benign Het
Zfp710 T C 7: 79,731,581 (GRCm39) S253P probably benign Het
Other mutations in Nbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Nbr1 APN 11 101,460,185 (GRCm39) missense possibly damaging 0.91
IGL02192:Nbr1 APN 11 101,460,417 (GRCm39) missense probably damaging 1.00
IGL02259:Nbr1 APN 11 101,468,816 (GRCm39) missense probably damaging 0.99
IGL02951:Nbr1 APN 11 101,462,805 (GRCm39) critical splice donor site probably null
R0087:Nbr1 UTSW 11 101,455,519 (GRCm39) missense probably benign 0.16
R0630:Nbr1 UTSW 11 101,457,913 (GRCm39) unclassified probably benign
R0723:Nbr1 UTSW 11 101,467,145 (GRCm39) nonsense probably null
R0733:Nbr1 UTSW 11 101,467,197 (GRCm39) missense probably benign 0.00
R1482:Nbr1 UTSW 11 101,463,667 (GRCm39) missense probably benign 0.34
R1567:Nbr1 UTSW 11 101,466,037 (GRCm39) missense probably damaging 0.98
R1570:Nbr1 UTSW 11 101,455,656 (GRCm39) unclassified probably benign
R1668:Nbr1 UTSW 11 101,460,592 (GRCm39) missense probably benign 0.00
R1759:Nbr1 UTSW 11 101,450,369 (GRCm39) missense probably damaging 1.00
R1903:Nbr1 UTSW 11 101,465,978 (GRCm39) missense probably damaging 0.98
R1927:Nbr1 UTSW 11 101,458,040 (GRCm39) missense possibly damaging 0.78
R2131:Nbr1 UTSW 11 101,457,017 (GRCm39) splice site probably null
R2211:Nbr1 UTSW 11 101,458,090 (GRCm39) critical splice donor site probably null
R2255:Nbr1 UTSW 11 101,463,643 (GRCm39) missense possibly damaging 0.80
R4270:Nbr1 UTSW 11 101,458,048 (GRCm39) missense possibly damaging 0.87
R4271:Nbr1 UTSW 11 101,458,048 (GRCm39) missense possibly damaging 0.87
R4710:Nbr1 UTSW 11 101,466,101 (GRCm39) missense probably damaging 1.00
R4947:Nbr1 UTSW 11 101,465,903 (GRCm39) missense probably benign 0.06
R5468:Nbr1 UTSW 11 101,463,290 (GRCm39) missense probably benign 0.10
R5554:Nbr1 UTSW 11 101,455,633 (GRCm39) missense probably benign 0.34
R5771:Nbr1 UTSW 11 101,450,364 (GRCm39) missense probably damaging 1.00
R6119:Nbr1 UTSW 11 101,457,938 (GRCm39) splice site probably null
R6400:Nbr1 UTSW 11 101,456,600 (GRCm39) missense probably damaging 1.00
R6603:Nbr1 UTSW 11 101,446,931 (GRCm39) unclassified probably benign
R6943:Nbr1 UTSW 11 101,468,777 (GRCm39) missense probably damaging 1.00
R7347:Nbr1 UTSW 11 101,460,147 (GRCm39) nonsense probably null
R7472:Nbr1 UTSW 11 101,462,765 (GRCm39) missense probably damaging 1.00
R7501:Nbr1 UTSW 11 101,457,026 (GRCm39) missense probably damaging 1.00
R7709:Nbr1 UTSW 11 101,447,067 (GRCm39) missense probably damaging 1.00
R7744:Nbr1 UTSW 11 101,460,210 (GRCm39) missense probably damaging 1.00
R7795:Nbr1 UTSW 11 101,460,154 (GRCm39) missense probably damaging 1.00
R8865:Nbr1 UTSW 11 101,455,520 (GRCm39) missense probably benign 0.00
R9377:Nbr1 UTSW 11 101,456,590 (GRCm39) missense possibly damaging 0.95
R9615:Nbr1 UTSW 11 101,465,978 (GRCm39) missense probably benign 0.02
R9667:Nbr1 UTSW 11 101,451,261 (GRCm39) missense possibly damaging 0.68
R9801:Nbr1 UTSW 11 101,447,025 (GRCm39) missense probably damaging 0.99
X0019:Nbr1 UTSW 11 101,457,950 (GRCm39) missense possibly damaging 0.50
Z1176:Nbr1 UTSW 11 101,463,380 (GRCm39) missense probably benign 0.04
Posted On 2016-08-02