Incidental Mutation 'R0723:Nbr1'
| ID |
63627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbr1
|
| Ensembl Gene |
ENSMUSG00000017119 |
| Gene Name |
NBR1, autophagy cargo receptor |
| Synonyms |
|
| MMRRC Submission |
038905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0723 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 101467145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 570
(Q570*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071537]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000107213]
[ENSMUST00000107218]
[ENSMUST00000123558]
|
| AlphaFold |
P97432 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071537
AA Change: Q847*
|
| SMART Domains |
Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: Q847*
| 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
AA Change: Q847*
|
| SMART Domains |
Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: Q847*
| 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
AA Change: Q847*
|
| SMART Domains |
Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: Q847*
| 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
AA Change: Q847*
|
| SMART Domains |
Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: Q847*
| 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
AA Change: Q822*
|
| SMART Domains |
Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: Q822*
| 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
AA Change: Q810*
|
| SMART Domains |
Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: Q810*
| 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
AA Change: Q847*
|
| SMART Domains |
Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: Q847*
| 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
AA Change: Q570*
|
| SMART Domains |
Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
AA Change: Q570*
| 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 null
Transcript: ENSMUST00000123558
AA Change: Q847*
|
| SMART Domains |
Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: Q847*
| 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: ENSMUST00000148805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141170
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acbd5 |
T |
G |
2: 22,959,608 (GRCm39) |
V54G |
probably damaging |
Het |
| Acin1 |
A |
T |
14: 54,902,908 (GRCm39) |
S255T |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,147,248 (GRCm39) |
L56P |
probably damaging |
Het |
| Akap6 |
G |
T |
12: 53,188,685 (GRCm39) |
C2033F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,237,506 (GRCm39) |
I777V |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,075,987 (GRCm39) |
V1349A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,733 (GRCm39) |
G444E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,760,164 (GRCm39) |
|
probably null |
Het |
| C2cd5 |
T |
C |
6: 142,987,281 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,287,697 (GRCm39) |
V1161A |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,169,703 (GRCm39) |
D268E |
probably benign |
Het |
| Ciao3 |
G |
A |
17: 26,000,795 (GRCm39) |
V406M |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,385,676 (GRCm39) |
S175T |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,320 (GRCm39) |
Y67* |
probably null |
Het |
| Copg2 |
T |
C |
6: 30,792,917 (GRCm39) |
I473V |
possibly damaging |
Het |
| Cstdc1 |
T |
C |
2: 148,625,282 (GRCm39) |
I72T |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,508,973 (GRCm39) |
V43I |
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Efemp2 |
T |
C |
19: 5,530,078 (GRCm39) |
S140P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,479,786 (GRCm39) |
T2944K |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,047,784 (GRCm39) |
D43E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,419,825 (GRCm39) |
A996T |
probably damaging |
Het |
| Fyb2 |
G |
A |
4: 104,873,063 (GRCm39) |
V784I |
probably benign |
Het |
| Gm6507 |
T |
A |
6: 89,162,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
C |
7: 83,405,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
T |
C |
6: 136,704,799 (GRCm39) |
|
probably null |
Het |
| Hdac10 |
A |
T |
15: 89,010,621 (GRCm39) |
L259Q |
probably damaging |
Het |
| Hoxd9 |
A |
T |
2: 74,529,172 (GRCm39) |
D258V |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,812,401 (GRCm39) |
T105A |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,783,595 (GRCm39) |
L271P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,524 (GRCm39) |
|
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,633,078 (GRCm39) |
M121K |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,876,566 (GRCm39) |
D129N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,361,999 (GRCm39) |
I648N |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,100,540 (GRCm39) |
R18H |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,247,473 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,369,803 (GRCm39) |
N854K |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,457,741 (GRCm39) |
I84T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,778,383 (GRCm39) |
S1380C |
probably benign |
Het |
| Myof |
A |
G |
19: 37,969,708 (GRCm39) |
V318A |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,897 (GRCm39) |
S28P |
probably damaging |
Het |
| Nhp2 |
C |
T |
11: 51,510,750 (GRCm39) |
Q36* |
probably null |
Het |
| Or1e17 |
T |
G |
11: 73,831,096 (GRCm39) |
V8G |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,965,457 (GRCm39) |
W129R |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,146,936 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 78,986,481 (GRCm39) |
E1018K |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,181,710 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,833,873 (GRCm39) |
V280I |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Spag5 |
C |
A |
11: 78,210,410 (GRCm39) |
|
probably benign |
Het |
| Spata31g1 |
T |
A |
4: 42,971,691 (GRCm39) |
N341K |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,644,617 (GRCm39) |
I961N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,173,045 (GRCm39) |
E1739G |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,502,337 (GRCm39) |
F50S |
possibly damaging |
Het |
| Tnfsf13b |
T |
G |
8: 10,057,166 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,616,679 (GRCm39) |
K16525E |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,259,629 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,711,582 (GRCm39) |
Y1437* |
probably null |
Het |
| Vwf |
C |
A |
6: 125,543,225 (GRCm39) |
D170E |
probably benign |
Het |
| Wdr95 |
C |
G |
5: 149,497,513 (GRCm39) |
I230M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,342,559 (GRCm39) |
S1600F |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,638 (GRCm39) |
K322E |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGAGCTGGGTCATTGTCTCTAC -3'
(R):5'- GCAAAGTCTGTGAACAAGGCCAC -3'
Sequencing Primer
(F):5'- GACCTGAATGAAGCCAGTTTCTC -3'
(R):5'- CACGGGTCTCAGAAACGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation