Incidental Mutation 'IGL02259:Nbr1'
| ID |
286667 |
| 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 # |
IGL02259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101468816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 639
(A639T)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039581]
[ENSMUST00000071537]
[ENSMUST00000100403]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107194]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000107218]
[ENSMUST00000107213]
[ENSMUST00000123558]
[ENSMUST00000128614]
|
| AlphaFold |
P97432 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039581
|
| SMART Domains |
Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
11 |
251 |
2.2e-89 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071537
AA Change: A916T
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: A916T
| 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 benign
Transcript: ENSMUST00000100403
|
| SMART Domains |
Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
24 |
251 |
1e-111 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103098
AA Change: A916T
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: A916T
| 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 |
possibly damaging
Transcript: ENSMUST00000103099
AA Change: A916T
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: A916T
| 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 benign
Transcript: ENSMUST00000107194
|
| SMART Domains |
Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
11 |
171 |
4.8e-62 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000107212
AA Change: A891T
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: A891T
| 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 |
possibly damaging
Transcript: ENSMUST00000107218
AA Change: A916T
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: A916T
| 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 damaging
Transcript: ENSMUST00000149019
AA Change: A639T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
AA Change: A639T
| 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 damaging
Transcript: ENSMUST00000107213
AA Change: A879T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: A879T
| 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 |
noncoding transcript
Transcript: ENSMUST00000141170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148805
|
| 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 |
probably benign
Transcript: ENSMUST00000128614
|
| SMART Domains |
Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
11 |
156 |
8.4e-57 |
PFAM |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,363 (GRCm39) |
F122L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,429,794 (GRCm39) |
|
probably benign |
Het |
| Ccsap |
G |
A |
8: 124,572,166 (GRCm39) |
T112M |
possibly damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,843 (GRCm39) |
S113P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,341,857 (GRCm39) |
F183L |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,687 (GRCm39) |
S321C |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,131,897 (GRCm39) |
T281I |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,792,246 (GRCm39) |
C233G |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,978,588 (GRCm39) |
I2955T |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,782,733 (GRCm39) |
T33A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,339,559 (GRCm39) |
Y481N |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,391,398 (GRCm39) |
E13V |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,293 (GRCm39) |
K66E |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,427,840 (GRCm39) |
M1103K |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,202,919 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,558 (GRCm39) |
P113T |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,153,264 (GRCm39) |
N1096K |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,248,327 (GRCm39) |
G9W |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,412 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Nid2 |
G |
T |
14: 19,818,277 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,636,955 (GRCm39) |
D22G |
possibly damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,634 (GRCm39) |
V307I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,458 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,166 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
T |
3: 63,630,170 (GRCm39) |
|
probably null |
Het |
| Prb1b |
A |
T |
6: 132,289,637 (GRCm39) |
D62E |
unknown |
Het |
| Prl8a1 |
A |
C |
13: 27,766,089 (GRCm39) |
V2G |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,297 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,703,166 (GRCm39) |
C760R |
probably damaging |
Het |
| Tgs1 |
A |
G |
4: 3,604,743 (GRCm39) |
N722D |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,898 (GRCm39) |
D28G |
probably benign |
Het |
| Zfp457 |
C |
T |
13: 67,444,471 (GRCm39) |
A11T |
possibly damaging |
Het |
| Zfp879 |
T |
C |
11: 50,729,255 (GRCm39) |
S48G |
probably benign |
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 |
|
IGL02951:Nbr1
|
APN |
11 |
101,462,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation