Incidental Mutation 'IGL02951:Nbr1'
| ID |
366020 |
| 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)
|
| Stock # |
IGL02951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 101462805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071537]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000107213]
[ENSMUST00000107218]
[ENSMUST00000123558]
|
| AlphaFold |
P97432 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071537
|
| SMART Domains |
Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000103098
|
| SMART Domains |
Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000103099
|
| SMART Domains |
Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000107208
|
| SMART Domains |
Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000107212
|
| SMART Domains |
Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000107213
|
| SMART Domains |
Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000107218
|
| SMART Domains |
Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000149019
|
| SMART Domains |
Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
50 |
89 |
N/A |
INTRINSIC |
|
Pfam:N_BRCA1_IG
|
138 |
239 |
2.3e-34 |
PFAM |
|
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
500 |
N/A |
INTRINSIC |
|
PDB:2MJ5|B
|
659 |
705 |
1e-24 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123558
|
| SMART Domains |
Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000174013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149170
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,290,536 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,868 (GRCm39) |
T291I |
probably benign |
Het |
| Adam34l |
T |
G |
8: 44,080,125 (GRCm39) |
H33P |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,157,439 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
C |
T |
7: 126,049,399 (GRCm39) |
V548M |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,992,812 (GRCm39) |
S980L |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,797,865 (GRCm39) |
M425T |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,147,143 (GRCm39) |
L2733S |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,251,874 (GRCm39) |
|
probably null |
Het |
| Cimap1d |
T |
C |
10: 79,475,811 (GRCm39) |
N251S |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,260,448 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
C |
15: 78,556,082 (GRCm39) |
K822E |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,112,240 (GRCm39) |
S764L |
probably benign |
Het |
| Etl4 |
C |
A |
2: 20,806,348 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
C |
A |
7: 35,092,376 (GRCm39) |
K180N |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,057,862 (GRCm39) |
R888W |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,581,009 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
T |
C |
14: 5,976,168 (GRCm38) |
E201G |
possibly damaging |
Het |
| Gnpat |
G |
T |
8: 125,597,644 (GRCm39) |
D69Y |
probably benign |
Het |
| Gpaa1 |
T |
A |
15: 76,217,019 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
A |
T |
9: 78,149,819 (GRCm39) |
K211* |
probably null |
Het |
| Lct |
G |
T |
1: 128,227,948 (GRCm39) |
Q1182K |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,311,836 (GRCm39) |
L523P |
probably damaging |
Het |
| Mrpl46 |
A |
G |
7: 78,425,200 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,403 (GRCm39) |
V354F |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,171,516 (GRCm39) |
V506I |
possibly damaging |
Het |
| Nadk |
A |
C |
4: 155,671,933 (GRCm39) |
K271Q |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,412,542 (GRCm39) |
R954G |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,835,698 (GRCm39) |
D587G |
possibly damaging |
Het |
| Oas1a |
A |
T |
5: 121,043,727 (GRCm39) |
F135Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,339 (GRCm39) |
|
probably benign |
Het |
| Or4k42 |
T |
G |
2: 111,320,465 (GRCm39) |
I13L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,678,903 (GRCm39) |
T355I |
probably benign |
Het |
| Pdgfd |
G |
T |
9: 6,288,494 (GRCm39) |
L43F |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,237 (GRCm39) |
S60P |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,576,788 (GRCm39) |
N25S |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,503,321 (GRCm39) |
F779Y |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,398,334 (GRCm39) |
R1078C |
probably damaging |
Het |
| Rnf38 |
G |
T |
4: 44,129,619 (GRCm39) |
S425* |
probably null |
Het |
| Rps21 |
T |
A |
2: 179,899,840 (GRCm39) |
I59N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,324,751 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Slc35b2 |
A |
G |
17: 45,875,694 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc37a2 |
A |
G |
9: 37,166,611 (GRCm39) |
F15L |
probably benign |
Het |
| Snapc4 |
A |
C |
2: 26,260,847 (GRCm39) |
N465K |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,850,696 (GRCm39) |
E487K |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Taco1 |
A |
G |
11: 105,960,353 (GRCm39) |
N98S |
probably benign |
Het |
| Tcea3 |
T |
C |
4: 135,985,299 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,751,456 (GRCm39) |
S507G |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,611 (GRCm39) |
C906S |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,765,112 (GRCm39) |
I963N |
possibly damaging |
Het |
| Usp10 |
A |
G |
8: 120,673,825 (GRCm39) |
T397A |
probably benign |
Het |
| Usp3 |
G |
A |
9: 66,449,832 (GRCm39) |
R160* |
probably null |
Het |
| Utp15 |
T |
C |
13: 98,394,460 (GRCm39) |
Y144C |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,831 (GRCm39) |
R172W |
probably damaging |
Het |
|
| Other mutations in Nbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02994:Nbr1
|
APN |
11 |
101,447,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation