Incidental Mutation 'R1933:Nebl'
ID |
215534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
039951-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1933 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17380103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 757
(M757K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028080]
[ENSMUST00000124270]
[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 damaging
Transcript: ENSMUST00000124270
AA Change: M757K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: M757K
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: ENSMUST00000127912
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150194
|
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: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
T |
8: 41,207,922 (GRCm39) |
Y396F |
probably benign |
Het |
Adra2a |
T |
A |
19: 54,034,837 (GRCm39) |
F64L |
probably damaging |
Het |
Ankrd45 |
A |
T |
1: 160,978,870 (GRCm39) |
N103I |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
G |
9: 107,993,643 (GRCm39) |
V703A |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,950,357 (GRCm39) |
I529K |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,396,287 (GRCm39) |
N726S |
probably damaging |
Het |
Ccdc78 |
T |
A |
17: 26,006,044 (GRCm39) |
S71T |
probably damaging |
Het |
Cct5 |
G |
T |
15: 31,591,154 (GRCm39) |
Q516K |
probably benign |
Het |
Cd300c2 |
A |
T |
11: 114,891,685 (GRCm39) |
V63E |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,344,595 (GRCm39) |
V7A |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,506,403 (GRCm39) |
F710L |
probably damaging |
Het |
Clpb |
T |
G |
7: 101,428,418 (GRCm39) |
F393V |
probably damaging |
Het |
Commd9 |
G |
A |
2: 101,731,376 (GRCm39) |
R187H |
probably damaging |
Het |
Crx |
T |
A |
7: 15,602,301 (GRCm39) |
K126* |
probably null |
Het |
Dcaf13 |
T |
A |
15: 39,001,483 (GRCm39) |
Y264N |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,455,650 (GRCm39) |
I791N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,345,683 (GRCm39) |
D456E |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,394,414 (GRCm39) |
S1963P |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,412,325 (GRCm39) |
Q905* |
probably null |
Het |
Farsa |
T |
C |
8: 85,587,780 (GRCm39) |
F104L |
probably benign |
Het |
Fbxl19 |
C |
A |
7: 127,350,101 (GRCm39) |
A231E |
probably benign |
Het |
Fbxw19 |
A |
T |
9: 109,310,718 (GRCm39) |
N401K |
probably benign |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,339,519 (GRCm39) |
N604S |
probably benign |
Het |
Gad1 |
T |
G |
2: 70,417,736 (GRCm39) |
C312G |
possibly damaging |
Het |
Garem2 |
G |
T |
5: 30,319,860 (GRCm39) |
E441* |
probably null |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm8206 |
A |
T |
14: 6,022,475 (GRCm38) |
M8K |
probably benign |
Het |
Gpr162 |
G |
A |
6: 124,838,410 (GRCm39) |
S80F |
probably damaging |
Het |
Grpr |
C |
A |
X: 162,332,137 (GRCm39) |
V53L |
probably benign |
Het |
Il21 |
C |
T |
3: 37,286,635 (GRCm39) |
R27H |
probably benign |
Het |
Il21r |
C |
T |
7: 125,228,153 (GRCm39) |
T208I |
possibly damaging |
Het |
Kcnab2 |
T |
C |
4: 152,520,323 (GRCm39) |
T6A |
possibly damaging |
Het |
Klra4 |
T |
A |
6: 130,042,207 (GRCm39) |
Q20L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,949 (GRCm39) |
|
probably null |
Het |
Lrrtm3 |
A |
G |
10: 63,924,292 (GRCm39) |
F292L |
possibly damaging |
Het |
Mpeg1 |
A |
T |
19: 12,440,011 (GRCm39) |
K490* |
probably null |
Het |
Myh14 |
C |
T |
7: 44,264,772 (GRCm39) |
M1671I |
probably benign |
Het |
Or51m1 |
G |
T |
7: 103,578,337 (GRCm39) |
M102I |
probably damaging |
Het |
Or56b1b |
A |
C |
7: 108,164,730 (GRCm39) |
F91V |
possibly damaging |
Het |
Or5aq1 |
T |
A |
2: 86,966,188 (GRCm39) |
H159L |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,280 (GRCm39) |
H2303L |
possibly damaging |
Het |
Podxl2 |
C |
T |
6: 88,826,587 (GRCm39) |
V240M |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,485,434 (GRCm39) |
*553W |
probably null |
Het |
Psma3 |
T |
A |
12: 71,031,468 (GRCm39) |
M43K |
probably benign |
Het |
Rad50 |
G |
T |
11: 53,570,888 (GRCm39) |
T790K |
probably benign |
Het |
Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
Rpn1 |
T |
A |
6: 88,070,841 (GRCm39) |
V237E |
probably damaging |
Het |
Scn10a |
T |
A |
9: 119,439,064 (GRCm39) |
M1601L |
probably damaging |
Het |
Sema4f |
G |
T |
6: 82,907,908 (GRCm39) |
P180Q |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,803,851 (GRCm39) |
E8G |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,861 (GRCm39) |
V167I |
possibly damaging |
Het |
Slc25a13 |
C |
T |
6: 6,109,262 (GRCm39) |
V367M |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,424 (GRCm39) |
S191P |
probably benign |
Het |
Srbd1 |
A |
G |
17: 86,410,321 (GRCm39) |
V537A |
probably damaging |
Het |
Srgap1 |
G |
T |
10: 121,761,808 (GRCm39) |
D113E |
possibly damaging |
Het |
Srl |
A |
G |
16: 4,310,214 (GRCm39) |
I505T |
probably damaging |
Het |
St14 |
G |
A |
9: 31,017,508 (GRCm39) |
T226I |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,529,137 (GRCm39) |
I1798N |
possibly damaging |
Het |
Sugp1 |
A |
G |
8: 70,509,225 (GRCm39) |
E166G |
possibly damaging |
Het |
Susd1 |
A |
T |
4: 59,351,695 (GRCm39) |
N455K |
possibly damaging |
Het |
Sytl3 |
T |
A |
17: 7,000,445 (GRCm39) |
V205E |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,533 (GRCm39) |
Y2183C |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tlcd3b |
T |
A |
7: 126,426,844 (GRCm39) |
|
probably null |
Het |
Tlr1 |
T |
G |
5: 65,082,781 (GRCm39) |
T599P |
possibly damaging |
Het |
Trpc6 |
G |
A |
9: 8,656,546 (GRCm39) |
D658N |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,150,957 (GRCm39) |
V546A |
possibly damaging |
Het |
Ube3c |
T |
C |
5: 29,824,657 (GRCm39) |
Y561H |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,284,405 (GRCm39) |
S42T |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,771,190 (GRCm39) |
V392A |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,855,301 (GRCm39) |
E771G |
probably benign |
Het |
Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
Wnt5a |
C |
T |
14: 28,233,802 (GRCm39) |
P10L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,312,695 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,903 (GRCm39) |
K132R |
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 |
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'- CCCCAAGGGCTTATTCAAATTCC -3'
(R):5'- TGACACACCCATTTGAAAAGCTTTC -3'
Sequencing Primer
(F):5'- CAAGGGCTTATTCAAATTCCCATGC -3'
(R):5'- TGGTCTACAGAGTAAGTTCCAGGAC -3'
|
Posted On |
2014-07-14 |