Incidental Mutation 'R2878:Nebl'
ID |
260155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
040466-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 17439740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 178
(D178Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118525
(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 |
probably damaging
Transcript: ENSMUST00000124270
AA Change: D178Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: D178Y
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 damaging
Transcript: ENSMUST00000131957
AA Change: D178Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118525 Gene: ENSMUSG00000053702 AA Change: D178Y
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 damaging
Transcript: ENSMUST00000132418
AA Change: D178Y
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122024 Gene: ENSMUSG00000053702 AA Change: D178Y
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 |
possibly damaging
Transcript: ENSMUST00000145492
AA Change: D178Y
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121313 Gene: ENSMUSG00000053702 AA Change: D178Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145545
|
Meta Mutation Damage Score |
0.6486 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
92% (58/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
Adgrg7 |
A |
G |
16: 56,570,817 (GRCm39) |
F404L |
probably benign |
Het |
Akr1c20 |
G |
A |
13: 4,557,774 (GRCm39) |
T251M |
probably damaging |
Het |
Amph |
G |
A |
13: 19,288,437 (GRCm39) |
V309I |
possibly damaging |
Het |
Ano2 |
T |
G |
6: 125,840,481 (GRCm39) |
F384C |
probably damaging |
Het |
Aplf |
G |
A |
6: 87,645,409 (GRCm39) |
R32* |
probably null |
Het |
Arhgef18 |
A |
G |
8: 3,482,759 (GRCm39) |
M155V |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
Camkmt |
T |
C |
17: 85,738,979 (GRCm39) |
|
probably benign |
Het |
Capn2 |
T |
A |
1: 182,344,798 (GRCm39) |
E41V |
probably benign |
Het |
Cd53 |
T |
C |
3: 106,674,732 (GRCm39) |
T112A |
probably benign |
Het |
Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
Dact2 |
A |
T |
17: 14,416,176 (GRCm39) |
S675T |
probably damaging |
Het |
Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,717,603 (GRCm39) |
H58Q |
probably benign |
Het |
F13b |
T |
C |
1: 139,429,485 (GRCm39) |
M1T |
probably null |
Het |
Fam83b |
A |
G |
9: 76,398,092 (GRCm39) |
F1004L |
probably damaging |
Het |
Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
Fscb |
A |
T |
12: 64,519,348 (GRCm39) |
V706E |
unknown |
Het |
Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
Gm17546 |
A |
T |
15: 95,727,805 (GRCm39) |
|
probably benign |
Het |
Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,751,530 (GRCm39) |
E607V |
possibly damaging |
Het |
Map3k4 |
T |
C |
17: 12,482,954 (GRCm39) |
S588G |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
Nfatc3 |
C |
A |
8: 106,818,776 (GRCm39) |
T498K |
probably damaging |
Het |
Nfkb2 |
G |
A |
19: 46,295,880 (GRCm39) |
R158H |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,947,014 (GRCm39) |
E4337G |
possibly damaging |
Het |
Or5b106 |
A |
G |
19: 13,123,771 (GRCm39) |
L84P |
probably benign |
Het |
Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,729,649 (GRCm39) |
E333G |
probably damaging |
Het |
Rem2 |
A |
G |
14: 54,713,819 (GRCm39) |
T31A |
possibly damaging |
Het |
Ric1 |
A |
G |
19: 29,579,730 (GRCm39) |
D1224G |
possibly damaging |
Het |
Rp1 |
A |
G |
1: 4,418,362 (GRCm39) |
S917P |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,518,715 (GRCm39) |
G363D |
probably damaging |
Het |
Shcbp1l |
A |
T |
1: 153,313,264 (GRCm39) |
|
probably benign |
Het |
Skor2 |
G |
T |
18: 76,948,419 (GRCm39) |
E714* |
probably null |
Het |
Slc15a1 |
T |
A |
14: 121,703,345 (GRCm39) |
K545N |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,591,512 (GRCm39) |
M414K |
probably damaging |
Het |
Slc7a8 |
A |
G |
14: 54,997,143 (GRCm39) |
S70P |
probably damaging |
Het |
Spopfm1 |
G |
T |
3: 94,173,787 (GRCm39) |
C265F |
possibly damaging |
Het |
Taf1a |
A |
G |
1: 183,179,173 (GRCm39) |
E117G |
probably damaging |
Het |
Trem2 |
A |
G |
17: 48,658,141 (GRCm39) |
D135G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
Unc80 |
TGTATTCCAGGCG |
TG |
1: 66,710,735 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
Wdr45 |
C |
T |
X: 7,593,611 (GRCm39) |
P271S |
probably damaging |
Het |
Zfp410 |
A |
C |
12: 84,378,411 (GRCm39) |
N245T |
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 |
|
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 |
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'- TGGGTCACTCAGGACAAAATTG -3'
(R):5'- ATCAGAGGAAATGAATGATCTGCAC -3'
Sequencing Primer
(F):5'- GTCACTCAGGACAAAATTGAGATGTC -3'
(R):5'- GAAAGTAACCTTAGTTCAGTGTGTTC -3'
|
Posted On |
2015-01-23 |