Incidental Mutation 'R7795:Nbr1'
| ID |
600181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nbr1
|
| Ensembl Gene |
ENSMUSG00000017119 |
| Gene Name |
NBR1, autophagy cargo receptor |
| Synonyms |
|
| MMRRC Submission |
045851-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101460154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 383
(D383E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099388
(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: D383E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: D383E
| 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: D383E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: D383E
| 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: D383E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: D383E
| 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: D383E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: D383E
| 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: D383E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: D383E
| 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 damaging
Transcript: ENSMUST00000107213
AA Change: D383E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: D383E
| 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: D383E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: D383E
| 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: D383E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: D383E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
AA Change: D142E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle1 |
T |
C |
8: 71,861,337 (GRCm39) |
S391P |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,570 (GRCm39) |
Q606R |
probably benign |
Het |
| Bmf |
A |
G |
2: 118,377,358 (GRCm39) |
L130P |
probably damaging |
Het |
| Ccdc88c |
G |
A |
12: 100,889,570 (GRCm39) |
T1491I |
probably benign |
Het |
| Cyp2c69 |
G |
A |
19: 39,864,663 (GRCm39) |
R272C |
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,806,354 (GRCm39) |
N78S |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,101,447 (GRCm39) |
D912E |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,099,288 (GRCm39) |
D743N |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,950,983 (GRCm39) |
V190A |
probably benign |
Het |
| Exoc2 |
G |
A |
13: 31,060,756 (GRCm39) |
R583* |
probably null |
Het |
| Extl1 |
T |
A |
4: 134,091,990 (GRCm39) |
I288F |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,732,910 (GRCm39) |
Y299F |
probably benign |
Het |
| Frmd4a |
G |
A |
2: 4,595,506 (GRCm39) |
G439R |
probably damaging |
Het |
| Gal3st4 |
T |
C |
5: 138,269,100 (GRCm39) |
H120R |
probably benign |
Het |
| Grid1 |
C |
A |
14: 35,043,642 (GRCm39) |
N332K |
probably damaging |
Het |
| Igkv4-68 |
A |
G |
6: 69,281,896 (GRCm39) |
Y92H |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,148,772 (GRCm39) |
E283G |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrc24 |
A |
G |
15: 76,602,248 (GRCm39) |
L169P |
probably benign |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,812,243 (GRCm39) |
T131A |
probably benign |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,479,198 (GRCm39) |
K167N |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,628 (GRCm39) |
L158Q |
unknown |
Het |
| Nlrp5 |
G |
A |
7: 23,118,219 (GRCm39) |
V648M |
possibly damaging |
Het |
| Nvl |
G |
T |
1: 180,924,722 (GRCm39) |
Q811K |
probably benign |
Het |
| Or13a21 |
A |
G |
7: 139,999,027 (GRCm39) |
F220L |
possibly damaging |
Het |
| Or13p3 |
C |
A |
4: 118,566,855 (GRCm39) |
H84N |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,453 (GRCm39) |
T222A |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,844 (GRCm39) |
L288Q |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,881,316 (GRCm39) |
Y224C |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,334,657 (GRCm39) |
Y324H |
probably benign |
Het |
| Pecam1 |
C |
A |
11: 106,586,658 (GRCm39) |
E286* |
probably null |
Het |
| Prl7d1 |
A |
T |
13: 27,893,263 (GRCm39) |
L215Q |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,319,729 (GRCm39) |
Y2514* |
probably null |
Het |
| Rgs11 |
A |
G |
17: 26,426,552 (GRCm39) |
H261R |
possibly damaging |
Het |
| Samd15 |
A |
G |
12: 87,247,506 (GRCm39) |
T64A |
probably benign |
Het |
| Shc4 |
T |
A |
2: 125,565,285 (GRCm39) |
S5C |
probably damaging |
Het |
| Shroom3 |
G |
A |
5: 93,067,508 (GRCm39) |
V109M |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,929,291 (GRCm39) |
I283T |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Synj2bp |
G |
A |
12: 81,548,922 (GRCm39) |
P106S |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,203,340 (GRCm39) |
S289P |
|
Het |
| Thoc1 |
T |
C |
18: 9,986,300 (GRCm39) |
V344A |
probably damaging |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,136 (GRCm39) |
L184S |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,926,936 (GRCm39) |
I537T |
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 |
|
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 |
|
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'- GCAGCGTATCTTTGTTTTATGACC -3'
(R):5'- TCCCCACATGAACTTGAGCTG -3'
Sequencing Primer
(F):5'- ACATGCTGGTGAGATCCATTC -3'
(R):5'- CCCACATGAACTTGAGCTGAAAGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation