Incidental Mutation 'R0537:Nebl'
| ID |
49483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nebl
|
| Ensembl Gene |
ENSMUSG00000053702 |
| Gene Name |
nebulette |
| Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
| MMRRC Submission |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 17409026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 392
(D392E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028080]
[ENSMUST00000124270]
[ENSMUST00000131957]
[ENSMUST00000132418]
[ENSMUST00000145492]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000124270
AA Change: D392E
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: D392E
| 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 |
possibly damaging
Transcript: ENSMUST00000131957
AA Change: D357E
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118525
Gene: ENSMUSG00000053702
AA Change: D357E
| 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
AA Change: D357E
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122024
Gene: ENSMUSG00000053702
AA Change: D357E
| 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: ENSMUST00000145492
AA Change: D357E
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121313
Gene: ENSMUSG00000053702
AA Change: D357E
| 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 |
|
| Meta Mutation Damage Score |
0.1303 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| B4galt3 |
T |
C |
1: 171,101,821 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,737 (GRCm39) |
Y163C |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,089,425 (GRCm39) |
S195P |
probably damaging |
Het |
| Heatr6 |
G |
T |
11: 83,670,290 (GRCm39) |
E948* |
probably null |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,116 (GRCm39) |
T335A |
possibly damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
probably 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 |
|
|
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 |
|
R7671:Nebl
|
UTSW |
2 |
17,395,727 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGAAAATGCAAGGCTCCCTCAGTG -3'
(R):5'- AGATGCTAGTCACAGAAAATGCCCC -3'
Sequencing Primer
(F):5'- CAACTCAAATATGCAATCAGTATGG -3'
(R):5'- TGCCAACATTCAGCATTGGAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation