Incidental Mutation 'R7671:Nebl'
ID |
592140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7671 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 17395727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 558
(R558*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028080]
[ENSMUST00000124270]
[ENSMUST00000131957]
[ENSMUST00000132418]
[ENSMUST00000177966]
|
AlphaFold |
Q0II04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028080
|
SMART Domains |
Protein: ENSMUSP00000028080 Gene: ENSMUSG00000053702
Domain | Start | End | E-Value | Type |
LIM
|
4 |
56 |
6.95e-14 |
SMART |
NEBU
|
62 |
92 |
3.35e-8 |
SMART |
NEBU
|
98 |
128 |
4.88e-10 |
SMART |
NEBU
|
134 |
164 |
3.82e-3 |
SMART |
SH3
|
213 |
270 |
2.12e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124270
AA Change: R558*
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: R558*
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
NEBU
|
30 |
60 |
1.21e-5 |
SMART |
NEBU
|
65 |
95 |
5.4e-3 |
SMART |
NEBU
|
102 |
132 |
4.46e-4 |
SMART |
NEBU
|
139 |
169 |
1.31e-1 |
SMART |
NEBU
|
173 |
203 |
5.4e-3 |
SMART |
NEBU
|
207 |
237 |
2.74e-4 |
SMART |
NEBU
|
245 |
275 |
1.57e0 |
SMART |
NEBU
|
280 |
310 |
9.67e-1 |
SMART |
NEBU
|
315 |
345 |
6.25e-8 |
SMART |
NEBU
|
351 |
381 |
5.97e-5 |
SMART |
NEBU
|
387 |
418 |
2.56e-4 |
SMART |
NEBU
|
425 |
455 |
8.91e-4 |
SMART |
NEBU
|
462 |
492 |
4.92e-6 |
SMART |
NEBU
|
499 |
529 |
2.33e-7 |
SMART |
NEBU
|
536 |
566 |
1.84e-5 |
SMART |
NEBU
|
571 |
601 |
2.23e-4 |
SMART |
NEBU
|
602 |
632 |
1.24e-2 |
SMART |
NEBU
|
664 |
694 |
6.6e-7 |
SMART |
NEBU
|
695 |
725 |
6.86e-5 |
SMART |
NEBU
|
726 |
756 |
2.03e-7 |
SMART |
NEBU
|
761 |
791 |
1.74e-6 |
SMART |
NEBU
|
797 |
827 |
3.82e-3 |
SMART |
SH3
|
957 |
1014 |
2.12e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124611
|
SMART Domains |
Protein: ENSMUSP00000116065 Gene: ENSMUSG00000053702
Domain | Start | End | E-Value | Type |
NEBU
|
3 |
33 |
4.88e-10 |
SMART |
NEBU
|
39 |
69 |
3.82e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131957
|
SMART Domains |
Protein: ENSMUSP00000118525 Gene: ENSMUSG00000053702
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
NEBU
|
30 |
60 |
1.21e-5 |
SMART |
NEBU
|
65 |
95 |
5.4e-3 |
SMART |
NEBU
|
102 |
132 |
4.46e-4 |
SMART |
NEBU
|
139 |
169 |
1.31e-1 |
SMART |
NEBU
|
173 |
203 |
5.4e-3 |
SMART |
NEBU
|
207 |
237 |
2.74e-4 |
SMART |
NEBU
|
245 |
275 |
7.35e0 |
SMART |
NEBU
|
280 |
310 |
6.25e-8 |
SMART |
NEBU
|
316 |
346 |
5.97e-5 |
SMART |
NEBU
|
352 |
383 |
2.56e-4 |
SMART |
NEBU
|
390 |
420 |
8.91e-4 |
SMART |
NEBU
|
427 |
457 |
4.92e-6 |
SMART |
NEBU
|
464 |
494 |
2.33e-7 |
SMART |
NEBU
|
501 |
525 |
1.02e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132418
|
SMART Domains |
Protein: ENSMUSP00000122024 Gene: ENSMUSG00000053702
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
NEBU
|
30 |
60 |
1.21e-5 |
SMART |
NEBU
|
65 |
95 |
5.4e-3 |
SMART |
NEBU
|
102 |
132 |
4.46e-4 |
SMART |
NEBU
|
139 |
169 |
1.31e-1 |
SMART |
NEBU
|
173 |
203 |
5.4e-3 |
SMART |
NEBU
|
207 |
237 |
2.74e-4 |
SMART |
NEBU
|
245 |
275 |
7.35e0 |
SMART |
NEBU
|
280 |
310 |
6.25e-8 |
SMART |
NEBU
|
316 |
346 |
5.97e-5 |
SMART |
NEBU
|
352 |
383 |
2.56e-4 |
SMART |
NEBU
|
390 |
420 |
4.78e-4 |
SMART |
NEBU
|
427 |
450 |
6.81e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177966
|
SMART Domains |
Protein: ENSMUSP00000137567 Gene: ENSMUSG00000053702
Domain | Start | End | E-Value | Type |
NEBU
|
5 |
35 |
2.23e-4 |
SMART |
NEBU
|
36 |
66 |
3.28e-2 |
SMART |
NEBU
|
67 |
97 |
6.6e-7 |
SMART |
NEBU
|
98 |
120 |
2e1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
C |
A |
7: 75,219,648 (GRCm39) |
T17K |
probably damaging |
Het |
Ankrd29 |
T |
A |
18: 12,394,043 (GRCm39) |
K257I |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,792,997 (GRCm39) |
L219P |
probably benign |
Het |
Bltp1 |
T |
C |
3: 36,997,380 (GRCm39) |
F1146L |
probably damaging |
Het |
Boc |
C |
T |
16: 44,312,212 (GRCm39) |
V617M |
|
Het |
Ccl8 |
A |
G |
11: 82,006,033 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,921,217 (GRCm39) |
L261P |
unknown |
Het |
Col5a3 |
T |
A |
9: 20,686,382 (GRCm39) |
|
probably null |
Het |
Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
Csf2rb |
A |
G |
15: 78,223,130 (GRCm39) |
Y114C |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Ctnnal1 |
A |
G |
4: 56,837,848 (GRCm39) |
F261L |
probably damaging |
Het |
Defb22 |
A |
T |
2: 152,327,950 (GRCm39) |
N78K |
unknown |
Het |
Dele1 |
T |
A |
18: 38,392,978 (GRCm39) |
I394N |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,709,283 (GRCm39) |
|
probably null |
Het |
Elp4 |
G |
T |
2: 105,734,826 (GRCm39) |
A3E |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,580,905 (GRCm39) |
V607A |
probably benign |
Het |
Epsti1 |
A |
G |
14: 78,141,930 (GRCm39) |
Y2C |
probably damaging |
Het |
Fam81b |
A |
C |
13: 76,419,412 (GRCm39) |
L46R |
probably damaging |
Het |
Fam81b |
G |
T |
13: 76,419,413 (GRCm39) |
L46I |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,982,278 (GRCm39) |
H288Q |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,973,323 (GRCm39) |
N77I |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,890,216 (GRCm39) |
Y715C |
possibly damaging |
Het |
H2bc27 |
T |
C |
11: 58,840,102 (GRCm39) |
S113P |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,764,627 (GRCm39) |
D1539G |
probably damaging |
Het |
Kcp |
T |
C |
6: 29,496,516 (GRCm39) |
N633S |
probably benign |
Het |
Krt6a |
C |
A |
15: 101,598,978 (GRCm39) |
S529I |
unknown |
Het |
Leo1 |
A |
G |
9: 75,352,844 (GRCm39) |
H129R |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,798,323 (GRCm39) |
V55M |
possibly damaging |
Het |
Mcm9 |
A |
G |
10: 53,413,665 (GRCm39) |
S472P |
probably benign |
Het |
Med27 |
T |
A |
2: 29,267,950 (GRCm39) |
V33D |
|
Het |
Mgat4f |
T |
C |
1: 134,317,800 (GRCm39) |
C191R |
probably benign |
Het |
Mup15 |
C |
T |
4: 61,356,526 (GRCm39) |
E80K |
probably benign |
Het |
Myo18a |
G |
A |
11: 77,750,246 (GRCm39) |
R199H |
|
Het |
Or10ak8 |
A |
T |
4: 118,774,183 (GRCm39) |
H160Q |
probably benign |
Het |
Or11g7 |
G |
T |
14: 50,691,342 (GRCm39) |
V278L |
probably benign |
Het |
Or12e9 |
A |
G |
2: 87,202,613 (GRCm39) |
T246A |
probably damaging |
Het |
Or4a79 |
A |
T |
2: 89,551,603 (GRCm39) |
I284K |
probably damaging |
Het |
Or5p78 |
T |
C |
7: 108,212,198 (GRCm39) |
I228T |
probably damaging |
Het |
Or6c217 |
T |
C |
10: 129,738,222 (GRCm39) |
D119G |
probably damaging |
Het |
Or8b41 |
A |
T |
9: 38,054,736 (GRCm39) |
M97L |
probably benign |
Het |
Pde11a |
A |
T |
2: 76,045,697 (GRCm39) |
F376I |
possibly damaging |
Het |
Prima1 |
A |
T |
12: 103,201,920 (GRCm39) |
C52S |
probably damaging |
Het |
Pxn |
G |
A |
5: 115,686,606 (GRCm39) |
R366H |
not run |
Het |
Sgce |
T |
C |
6: 4,691,564 (GRCm39) |
Y337C |
probably damaging |
Het |
Slc25a10 |
T |
A |
11: 120,386,286 (GRCm39) |
M130K |
probably benign |
Het |
Slc29a2 |
A |
T |
19: 5,074,290 (GRCm39) |
N5I |
probably benign |
Het |
Slc35a1 |
A |
T |
4: 34,673,875 (GRCm39) |
H150Q |
|
Het |
Slc5a4a |
T |
A |
10: 75,983,384 (GRCm39) |
V7D |
unknown |
Het |
Stk17b |
T |
A |
1: 53,805,159 (GRCm39) |
D134V |
probably damaging |
Het |
Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
Thbs3 |
T |
A |
3: 89,124,014 (GRCm39) |
S36T |
probably benign |
Het |
Thsd4 |
A |
G |
9: 60,335,457 (GRCm39) |
S152P |
probably benign |
Het |
Tmem67 |
G |
T |
4: 12,063,698 (GRCm39) |
H422N |
probably benign |
Het |
Tram1 |
C |
A |
1: 13,659,868 (GRCm39) |
V27F |
probably damaging |
Het |
Trim14 |
A |
G |
4: 46,507,238 (GRCm39) |
V326A |
possibly damaging |
Het |
|
Other mutations in Nebl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02146:Nebl
|
APN |
2 |
17,353,679 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02732:Nebl
|
APN |
2 |
17,457,295 (GRCm39) |
splice site |
probably benign |
|
IGL03241:Nebl
|
APN |
2 |
17,397,975 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03334:Nebl
|
APN |
2 |
17,418,522 (GRCm39) |
missense |
probably damaging |
0.98 |
BB008:Nebl
|
UTSW |
2 |
17,381,433 (GRCm39) |
critical splice donor site |
probably null |
|
BB018:Nebl
|
UTSW |
2 |
17,381,433 (GRCm39) |
critical splice donor site |
probably null |
|
R0068:Nebl
|
UTSW |
2 |
17,439,782 (GRCm39) |
nonsense |
probably null |
|
R0127:Nebl
|
UTSW |
2 |
17,397,794 (GRCm39) |
missense |
probably benign |
0.31 |
R0128:Nebl
|
UTSW |
2 |
17,397,834 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0130:Nebl
|
UTSW |
2 |
17,397,834 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0130:Nebl
|
UTSW |
2 |
17,395,737 (GRCm39) |
start gained |
probably benign |
|
R0537:Nebl
|
UTSW |
2 |
17,409,026 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0743:Nebl
|
UTSW |
2 |
17,415,929 (GRCm39) |
missense |
probably benign |
|
R0884:Nebl
|
UTSW |
2 |
17,415,929 (GRCm39) |
missense |
probably benign |
|
R1364:Nebl
|
UTSW |
2 |
17,397,848 (GRCm39) |
unclassified |
probably benign |
|
R1638:Nebl
|
UTSW |
2 |
17,381,462 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1711:Nebl
|
UTSW |
2 |
17,393,565 (GRCm39) |
missense |
probably damaging |
0.96 |
R1933:Nebl
|
UTSW |
2 |
17,380,103 (GRCm39) |
missense |
probably damaging |
0.97 |
R1990:Nebl
|
UTSW |
2 |
17,457,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R1991:Nebl
|
UTSW |
2 |
17,457,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R1992:Nebl
|
UTSW |
2 |
17,457,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R2062:Nebl
|
UTSW |
2 |
17,401,932 (GRCm39) |
missense |
probably benign |
0.39 |
R2183:Nebl
|
UTSW |
2 |
17,409,027 (GRCm39) |
missense |
probably damaging |
0.99 |
R2325:Nebl
|
UTSW |
2 |
17,397,827 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2679:Nebl
|
UTSW |
2 |
17,429,402 (GRCm39) |
missense |
probably benign |
0.03 |
R2877:Nebl
|
UTSW |
2 |
17,439,740 (GRCm39) |
missense |
probably damaging |
0.99 |
R2878:Nebl
|
UTSW |
2 |
17,439,740 (GRCm39) |
missense |
probably damaging |
0.99 |
R3079:Nebl
|
UTSW |
2 |
17,381,462 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3080:Nebl
|
UTSW |
2 |
17,381,462 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3878:Nebl
|
UTSW |
2 |
17,398,063 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3947:Nebl
|
UTSW |
2 |
17,382,917 (GRCm39) |
critical splice donor site |
probably null |
|
R4983:Nebl
|
UTSW |
2 |
17,380,082 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5006:Nebl
|
UTSW |
2 |
17,393,582 (GRCm39) |
splice site |
probably null |
|
R5256:Nebl
|
UTSW |
2 |
17,438,786 (GRCm39) |
missense |
probably benign |
0.37 |
R5491:Nebl
|
UTSW |
2 |
17,439,783 (GRCm39) |
nonsense |
probably null |
|
R5533:Nebl
|
UTSW |
2 |
17,398,079 (GRCm39) |
nonsense |
probably null |
|
R5597:Nebl
|
UTSW |
2 |
17,382,978 (GRCm39) |
missense |
probably benign |
|
R5658:Nebl
|
UTSW |
2 |
17,353,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Nebl
|
UTSW |
2 |
17,408,998 (GRCm39) |
missense |
probably benign |
|
R6056:Nebl
|
UTSW |
2 |
17,455,045 (GRCm39) |
missense |
probably benign |
0.13 |
R6161:Nebl
|
UTSW |
2 |
17,735,641 (GRCm39) |
missense |
probably benign |
0.26 |
R6646:Nebl
|
UTSW |
2 |
17,381,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R6784:Nebl
|
UTSW |
2 |
17,439,725 (GRCm39) |
nonsense |
probably null |
|
R6935:Nebl
|
UTSW |
2 |
17,353,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Nebl
|
UTSW |
2 |
17,457,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R7728:Nebl
|
UTSW |
2 |
17,375,325 (GRCm39) |
missense |
|
|
R7931:Nebl
|
UTSW |
2 |
17,381,433 (GRCm39) |
critical splice donor site |
probably null |
|
R8007:Nebl
|
UTSW |
2 |
17,375,300 (GRCm39) |
missense |
|
|
R8048:Nebl
|
UTSW |
2 |
17,429,333 (GRCm39) |
missense |
probably benign |
0.12 |
R8118:Nebl
|
UTSW |
2 |
17,384,631 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8317:Nebl
|
UTSW |
2 |
17,355,568 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8349:Nebl
|
UTSW |
2 |
17,418,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R8360:Nebl
|
UTSW |
2 |
17,465,298 (GRCm39) |
missense |
probably benign |
0.04 |
R8392:Nebl
|
UTSW |
2 |
17,457,363 (GRCm39) |
missense |
probably benign |
0.36 |
R8449:Nebl
|
UTSW |
2 |
17,418,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R8537:Nebl
|
UTSW |
2 |
17,355,520 (GRCm39) |
missense |
probably benign |
0.02 |
R8778:Nebl
|
UTSW |
2 |
17,409,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8893:Nebl
|
UTSW |
2 |
17,735,671 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R8894:Nebl
|
UTSW |
2 |
17,380,036 (GRCm39) |
missense |
probably benign |
0.01 |
R8906:Nebl
|
UTSW |
2 |
17,382,928 (GRCm39) |
missense |
probably benign |
0.18 |
R8929:Nebl
|
UTSW |
2 |
17,397,991 (GRCm39) |
nonsense |
probably null |
|
R9054:Nebl
|
UTSW |
2 |
17,415,907 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9119:Nebl
|
UTSW |
2 |
17,405,370 (GRCm39) |
missense |
probably damaging |
0.96 |
R9211:Nebl
|
UTSW |
2 |
17,393,501 (GRCm39) |
critical splice donor site |
probably null |
|
R9225:Nebl
|
UTSW |
2 |
17,405,322 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9296:Nebl
|
UTSW |
2 |
17,429,451 (GRCm39) |
splice site |
probably benign |
|
R9310:Nebl
|
UTSW |
2 |
17,353,678 (GRCm39) |
missense |
probably benign |
0.16 |
R9474:Nebl
|
UTSW |
2 |
17,374,421 (GRCm39) |
nonsense |
probably null |
|
X0012:Nebl
|
UTSW |
2 |
17,448,605 (GRCm39) |
missense |
probably benign |
0.16 |
X0025:Nebl
|
UTSW |
2 |
17,409,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGTGTGCATAAGGAGTATAC -3'
(R):5'- CCGCTGTGACAGACTCTTTC -3'
Sequencing Primer
(F):5'- CTGTGTGCATAAGGAGTATACGAAGC -3'
(R):5'- GTGACAGACTCTTTCCTGACAC -3'
|
Posted On |
2019-11-12 |