Incidental Mutation 'IGL02146:Nebl'
ID |
281781 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02146
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 17353679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 957
(R957S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028080]
[ENSMUST00000124270]
|
AlphaFold |
Q0II04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028080
AA Change: R213S
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028080 Gene: ENSMUSG00000053702 AA Change: R213S
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: R957S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: R957S
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 |
noncoding transcript
Transcript: ENSMUST00000138241
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,164,023 (GRCm39) |
C784R |
possibly damaging |
Het |
Akp3 |
A |
T |
1: 87,054,297 (GRCm39) |
D278V |
probably benign |
Het |
Atxn7l1 |
G |
T |
12: 33,418,030 (GRCm39) |
R730S |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,355,191 (GRCm39) |
T30A |
probably damaging |
Het |
Blk |
G |
T |
14: 63,611,648 (GRCm39) |
P429H |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,212,689 (GRCm39) |
M524K |
unknown |
Het |
Bst1 |
T |
A |
5: 43,983,678 (GRCm39) |
H221Q |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,693,576 (GRCm39) |
I419T |
possibly damaging |
Het |
Cnep1r1 |
T |
C |
8: 88,856,326 (GRCm39) |
V34A |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,661,414 (GRCm39) |
E308G |
probably damaging |
Het |
Cyp20a1 |
A |
T |
1: 60,410,410 (GRCm39) |
K237I |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,252,429 (GRCm39) |
T104A |
probably damaging |
Het |
Dnaaf11 |
C |
T |
15: 66,361,374 (GRCm39) |
W42* |
probably null |
Het |
Dnaaf11 |
C |
A |
15: 66,361,375 (GRCm39) |
W42L |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,818,526 (GRCm39) |
V3271M |
probably damaging |
Het |
Eed |
T |
A |
7: 89,618,803 (GRCm39) |
N204Y |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,910,878 (GRCm39) |
V1708A |
probably benign |
Het |
Fcrl6 |
T |
C |
1: 172,426,264 (GRCm39) |
T178A |
probably benign |
Het |
Galnt4 |
A |
C |
10: 98,945,563 (GRCm39) |
K429N |
possibly damaging |
Het |
Ints6 |
T |
A |
14: 62,996,709 (GRCm39) |
T94S |
possibly damaging |
Het |
Iqsec3 |
A |
T |
6: 121,360,916 (GRCm39) |
S981T |
probably damaging |
Het |
Itga9 |
T |
A |
9: 118,663,400 (GRCm39) |
S146T |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,336,249 (GRCm39) |
Y2325C |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,806,582 (GRCm39) |
Q539L |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,444,371 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
C |
2: 121,129,927 (GRCm39) |
Y248H |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,318,879 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
T |
5: 112,991,151 (GRCm39) |
M942K |
probably damaging |
Het |
Myzap |
T |
A |
9: 71,471,730 (GRCm39) |
T94S |
probably benign |
Het |
Nexn |
A |
T |
3: 151,952,885 (GRCm39) |
D278E |
probably benign |
Het |
Nlgn1 |
A |
T |
3: 25,966,846 (GRCm39) |
N222K |
probably damaging |
Het |
Or6c76 |
T |
A |
10: 129,612,727 (GRCm39) |
|
probably benign |
Het |
Or8d1 |
G |
A |
9: 38,766,654 (GRCm39) |
A99T |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,380,094 (GRCm39) |
R79S |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,763,771 (GRCm39) |
I1268M |
probably benign |
Het |
Pkd2 |
G |
T |
5: 104,637,157 (GRCm39) |
R590L |
probably damaging |
Het |
Reg2 |
G |
A |
6: 78,382,568 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,662,934 (GRCm39) |
D26E |
probably damaging |
Het |
Ska1 |
A |
G |
18: 74,329,981 (GRCm39) |
I253T |
possibly damaging |
Het |
Slc11a2 |
T |
C |
15: 100,299,169 (GRCm39) |
N443D |
probably damaging |
Het |
Slc6a12 |
A |
T |
6: 121,330,460 (GRCm39) |
T155S |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,125,675 (GRCm39) |
K118R |
possibly damaging |
Het |
Snap23 |
T |
G |
2: 120,429,792 (GRCm39) |
N212K |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,151,078 (GRCm39) |
D346E |
probably benign |
Het |
Sumf1 |
C |
A |
6: 108,150,392 (GRCm39) |
|
probably null |
Het |
Susd2 |
T |
C |
10: 75,474,267 (GRCm39) |
N479S |
possibly damaging |
Het |
Tiam1 |
A |
G |
16: 89,646,569 (GRCm39) |
I821T |
probably benign |
Het |
Tll2 |
C |
A |
19: 41,086,276 (GRCm39) |
V651L |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 64,012,104 (GRCm39) |
D655G |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,170 (GRCm39) |
Y798C |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,646,479 (GRCm39) |
I1528L |
probably benign |
Het |
Wdtc1 |
G |
A |
4: 133,029,076 (GRCm39) |
L337F |
probably benign |
Het |
Zfp128 |
A |
C |
7: 12,623,959 (GRCm39) |
K109T |
possibly damaging |
Het |
|
Other mutations in Nebl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |