Incidental Mutation 'R5533:Nebl'
ID |
433731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
043091-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5533 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 17398079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 414
(Y414*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028080]
[ENSMUST00000124270]
[ENSMUST00000131957]
[ENSMUST00000132418]
[ENSMUST00000145492]
[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: Y486*
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: Y486*
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 |
probably null
Transcript: ENSMUST00000131957
AA Change: Y451*
|
SMART Domains |
Protein: ENSMUSP00000118525 Gene: ENSMUSG00000053702 AA Change: Y451*
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 null
Transcript: ENSMUST00000132418
AA Change: Y414*
|
SMART Domains |
Protein: ENSMUSP00000122024 Gene: ENSMUSG00000053702 AA Change: Y414*
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 |
noncoding transcript
Transcript: ENSMUST00000137253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150194
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145492
|
SMART Domains |
Protein: ENSMUSP00000121313 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 |
|
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: 98.4%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 88.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
Akap12 |
T |
A |
10: 4,307,405 (GRCm39) |
V1405D |
probably damaging |
Het |
Akap7 |
C |
T |
10: 25,159,880 (GRCm39) |
D107N |
possibly damaging |
Het |
Arfgef1 |
A |
G |
1: 10,269,952 (GRCm39) |
|
probably null |
Het |
Cacna1s |
T |
A |
1: 136,026,113 (GRCm39) |
|
probably null |
Het |
Ctsd |
T |
C |
7: 141,931,070 (GRCm39) |
Q274R |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,453 (GRCm39) |
R1575Q |
probably damaging |
Het |
Erich6b |
A |
T |
14: 75,896,274 (GRCm39) |
L53F |
possibly damaging |
Het |
Exoc6 |
A |
C |
19: 37,582,218 (GRCm39) |
|
probably null |
Het |
Fbxw19 |
A |
T |
9: 109,315,133 (GRCm39) |
V143E |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fndc1 |
A |
G |
17: 7,991,608 (GRCm39) |
F696S |
unknown |
Het |
Foxa3 |
G |
T |
7: 18,748,940 (GRCm39) |
Y102* |
probably null |
Het |
Foxn1 |
A |
G |
11: 78,256,792 (GRCm39) |
M301T |
probably damaging |
Het |
Foxp2 |
C |
T |
6: 15,197,119 (GRCm39) |
Q54* |
probably null |
Het |
Glra1 |
T |
C |
11: 55,423,208 (GRCm39) |
E117G |
possibly damaging |
Het |
Glt1d1 |
A |
T |
5: 127,768,095 (GRCm39) |
D234V |
probably damaging |
Het |
Golm2 |
AGATGGTGATGGTG |
AGATGGTG |
2: 121,756,178 (GRCm39) |
|
probably benign |
Het |
Gulp1 |
T |
C |
1: 44,812,441 (GRCm39) |
I137T |
probably damaging |
Het |
Itga8 |
A |
G |
2: 12,165,161 (GRCm39) |
V816A |
possibly damaging |
Het |
Kdm4c |
G |
A |
4: 74,233,886 (GRCm39) |
|
probably benign |
Het |
Krtap19-2 |
A |
G |
16: 88,670,996 (GRCm39) |
|
probably benign |
Het |
Lcorl |
T |
C |
5: 45,891,219 (GRCm39) |
N378S |
possibly damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,807,357 (GRCm39) |
L363P |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,520,081 (GRCm39) |
Y745* |
probably null |
Het |
Nav3 |
A |
C |
10: 109,719,539 (GRCm39) |
N141K |
possibly damaging |
Het |
Ncor1 |
T |
C |
11: 62,233,837 (GRCm39) |
N779S |
probably benign |
Het |
Nf1 |
T |
G |
11: 79,336,615 (GRCm39) |
C1065G |
probably damaging |
Het |
Nfib |
A |
G |
4: 82,278,004 (GRCm39) |
V216A |
probably damaging |
Het |
Nub1 |
A |
T |
5: 24,907,379 (GRCm39) |
N354I |
possibly damaging |
Het |
Nyap1 |
C |
T |
5: 137,733,726 (GRCm39) |
V436I |
probably benign |
Het |
Or5m11b |
A |
G |
2: 85,805,797 (GRCm39) |
D70G |
possibly damaging |
Het |
Or5p73 |
T |
C |
7: 108,065,469 (GRCm39) |
F313L |
probably benign |
Het |
Pde2a |
T |
A |
7: 101,155,187 (GRCm39) |
M570K |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,296 (GRCm39) |
S856G |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,794,855 (GRCm39) |
E368G |
probably benign |
Het |
Ptf1a |
G |
A |
2: 19,451,969 (GRCm39) |
V323M |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,552,504 (GRCm39) |
Y920C |
probably damaging |
Het |
Sergef |
T |
A |
7: 46,264,200 (GRCm39) |
D229V |
possibly damaging |
Het |
Slc1a4 |
T |
C |
11: 20,254,417 (GRCm39) |
K483R |
probably benign |
Het |
Slc26a6 |
G |
A |
9: 108,735,155 (GRCm39) |
R351H |
probably damaging |
Het |
Slc6a19 |
G |
A |
13: 73,833,948 (GRCm39) |
T370I |
possibly damaging |
Het |
Smpd5 |
T |
C |
15: 76,178,757 (GRCm39) |
S42P |
possibly damaging |
Het |
Snx13 |
G |
A |
12: 35,173,025 (GRCm39) |
|
probably null |
Het |
Sox10 |
G |
A |
15: 79,040,502 (GRCm39) |
S185L |
probably benign |
Het |
Spata31e5 |
T |
A |
1: 28,817,163 (GRCm39) |
I290F |
probably damaging |
Het |
Srpk1 |
T |
C |
17: 28,821,733 (GRCm39) |
Y227C |
probably damaging |
Het |
Stambpl1 |
T |
A |
19: 34,211,316 (GRCm39) |
|
probably null |
Het |
Stk36 |
A |
G |
1: 74,665,750 (GRCm39) |
R698G |
possibly damaging |
Het |
Tas2r122 |
T |
A |
6: 132,688,393 (GRCm39) |
T167S |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,509,656 (GRCm39) |
S865P |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,038,227 (GRCm39) |
L1537P |
probably damaging |
Het |
Vstm2a |
C |
A |
11: 16,213,125 (GRCm39) |
T170K |
possibly damaging |
Het |
Xpo7 |
A |
T |
14: 70,931,407 (GRCm39) |
F304I |
probably damaging |
Het |
Zfp286 |
T |
C |
11: 62,671,796 (GRCm39) |
|
probably benign |
Het |
Zfp985 |
A |
T |
4: 147,667,440 (GRCm39) |
K103* |
probably null |
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 |
|
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'- TCCAGGGTCCTATTGTTATTCATG -3'
(R):5'- TTAGTACACAAAGCCTCCTGG -3'
Sequencing Primer
(F):5'- CATGTGTTTCAACAACAAGGTGAC -3'
(R):5'- GTACACAAAGCCTCCTGGTTATG -3'
|
Posted On |
2016-10-06 |