Incidental Mutation 'IGL02192:Nbr1'
| ID |
283892 |
| 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 # |
IGL02192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101460417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 444
(S444T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071537]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000107213]
[ENSMUST00000107218]
[ENSMUST00000123558]
|
| AlphaFold |
P97432 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071537
AA Change: S444T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: S444T
| 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 damaging
Transcript: ENSMUST00000103098
AA Change: S444T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: S444T
| 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: ENSMUST00000103099
AA Change: S444T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: S444T
| 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: ENSMUST00000107208
AA Change: S444T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: S444T
| 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 damaging
Transcript: ENSMUST00000107212
AA Change: S444T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: S444T
| 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: ENSMUST00000107213
AA Change: S444T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: S444T
| 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 damaging
Transcript: ENSMUST00000107218
AA Change: S444T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: S444T
| 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: ENSMUST00000123558
AA Change: S444T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: S444T
| 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 |
unknown
Transcript: ENSMUST00000149019
AA Change: S203T
|
| SMART Domains |
Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
AA Change: S203T
| 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 |
noncoding transcript
Transcript: ENSMUST00000149170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146452
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,597,825 (GRCm39) |
M545K |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Anxa13 |
A |
T |
15: 58,220,628 (GRCm39) |
|
noncoding transcript |
Het |
| Ap2b1 |
C |
T |
11: 83,237,592 (GRCm39) |
T552I |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,125,325 (GRCm39) |
S388G |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,460,402 (GRCm39) |
D544V |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,145,279 (GRCm39) |
R377G |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,798 (GRCm39) |
T154A |
unknown |
Het |
| Col9a1 |
C |
T |
1: 24,261,068 (GRCm39) |
P311S |
probably damaging |
Het |
| Cpsf3 |
G |
T |
12: 21,360,194 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
G |
T |
12: 21,360,197 (GRCm39) |
|
probably null |
Het |
| Dock8 |
T |
C |
19: 25,055,569 (GRCm39) |
|
probably null |
Het |
| Eml6 |
A |
G |
11: 29,755,743 (GRCm39) |
I837T |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,657,028 (GRCm39) |
T792A |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,287,625 (GRCm39) |
R1569* |
probably null |
Het |
| F13b |
A |
T |
1: 139,445,071 (GRCm39) |
T574S |
probably damaging |
Het |
| Fam184b |
G |
T |
5: 45,695,062 (GRCm39) |
D727E |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,633 (GRCm39) |
L524P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,189,415 (GRCm39) |
L619P |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,754 (GRCm39) |
I66V |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,712 (GRCm39) |
D426G |
possibly damaging |
Het |
| Gm3371 |
A |
T |
14: 44,641,235 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
A |
T |
5: 115,098,177 (GRCm39) |
S142T |
probably damaging |
Het |
| Itgb3 |
A |
G |
11: 104,534,765 (GRCm39) |
I541V |
probably benign |
Het |
| Itgbl1 |
G |
T |
14: 124,081,338 (GRCm39) |
C239F |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Larp1b |
G |
T |
3: 40,921,929 (GRCm39) |
S116I |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,443,933 (GRCm39) |
|
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,137,513 (GRCm39) |
I235V |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,879,887 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,285 (GRCm39) |
D1819N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,717 (GRCm39) |
T2254A |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,101,301 (GRCm39) |
D1956E |
probably damaging |
Het |
| Ndufaf5 |
T |
C |
2: 140,030,663 (GRCm39) |
V183A |
probably benign |
Het |
| Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,998 (GRCm39) |
H265L |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,417 (GRCm39) |
L225H |
probably damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,472 (GRCm39) |
G233D |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,529,217 (GRCm39) |
E749G |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,477,547 (GRCm39) |
I66V |
probably damaging |
Het |
| Prl4a1 |
C |
A |
13: 28,202,554 (GRCm39) |
T43K |
possibly damaging |
Het |
| Prop1 |
A |
G |
11: 50,844,113 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,761,010 (GRCm39) |
I218N |
probably damaging |
Het |
| Rbm22 |
T |
A |
18: 60,697,484 (GRCm39) |
M63K |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,815,895 (GRCm39) |
S1056P |
probably benign |
Het |
| Rps6kb2 |
T |
C |
19: 4,207,587 (GRCm39) |
T388A |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,129 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
A |
T |
1: 85,635,722 (GRCm39) |
D509V |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,829,861 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
A |
6: 48,436,502 (GRCm39) |
T1254K |
possibly damaging |
Het |
| Stk19 |
A |
G |
17: 35,051,134 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,262 (GRCm39) |
I311F |
probably damaging |
Het |
| Themis2 |
C |
A |
4: 132,510,658 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,074,702 (GRCm39) |
Y937C |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,896,939 (GRCm39) |
M1K |
probably null |
Het |
| Usp50 |
G |
A |
2: 126,619,958 (GRCm39) |
T118I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,875,428 (GRCm39) |
S1693F |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,282,852 (GRCm39) |
I467N |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
|
|
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