Incidental Mutation 'R9054:Nebl'
ID |
688545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
068880-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9054 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17415907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 334
(M334K)
|
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 |
possibly damaging
Transcript: ENSMUST00000124270
AA Change: M369K
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: M369K
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: M334K
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118525 Gene: ENSMUSG00000053702 AA Change: M334K
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 |
possibly damaging
Transcript: ENSMUST00000132418
AA Change: M334K
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122024 Gene: ENSMUSG00000053702 AA Change: M334K
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: M334K
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000121313 Gene: ENSMUSG00000053702 AA Change: M334K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankef1 |
T |
A |
2: 136,395,594 (GRCm39) |
D641E |
probably benign |
Het |
Anln |
A |
G |
9: 22,272,116 (GRCm39) |
|
probably null |
Het |
Areg |
A |
T |
5: 91,292,217 (GRCm39) |
E172D |
probably damaging |
Het |
Ccdc51 |
A |
T |
9: 108,918,482 (GRCm39) |
T24S |
probably benign |
Het |
Cckar |
A |
T |
5: 53,860,424 (GRCm39) |
I135N |
probably damaging |
Het |
Cdca7 |
CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA |
CGAGGAAGAGGAGGAGGAAGAGGA |
2: 72,313,821 (GRCm39) |
|
probably benign |
Het |
Cep295 |
T |
C |
9: 15,235,551 (GRCm39) |
H2056R |
possibly damaging |
Het |
Chrnb2 |
T |
C |
3: 89,664,562 (GRCm39) |
K451E |
probably damaging |
Het |
Ctnna2 |
C |
T |
6: 76,919,249 (GRCm39) |
R663Q |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,853,253 (GRCm39) |
I406F |
probably benign |
Het |
Eml4 |
T |
A |
17: 83,734,640 (GRCm39) |
|
probably benign |
Het |
Fkrp |
G |
T |
7: 16,544,569 (GRCm39) |
T431K |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,806,180 (GRCm39) |
Y833F |
possibly damaging |
Het |
Galnt2 |
T |
C |
8: 125,058,837 (GRCm39) |
|
probably null |
Het |
Gm8180 |
T |
A |
14: 44,019,806 (GRCm39) |
|
probably null |
Het |
Hcn1 |
T |
C |
13: 118,108,171 (GRCm39) |
S552P |
unknown |
Het |
Ifit1 |
A |
C |
19: 34,625,887 (GRCm39) |
E341A |
possibly damaging |
Het |
Iyd |
A |
G |
10: 3,490,250 (GRCm39) |
|
probably benign |
Het |
Krt72 |
A |
T |
15: 101,694,836 (GRCm39) |
S20T |
probably damaging |
Het |
Lemd2 |
G |
T |
17: 27,423,069 (GRCm39) |
D108E |
probably benign |
Het |
Lipn |
A |
T |
19: 34,054,376 (GRCm39) |
I205F |
possibly damaging |
Het |
Nat1 |
G |
T |
8: 67,943,723 (GRCm39) |
R36L |
probably benign |
Het |
Nectin4 |
A |
T |
1: 171,214,351 (GRCm39) |
N502I |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,214,389 (GRCm39) |
V626I |
probably benign |
Het |
Oprm1 |
G |
A |
10: 6,773,914 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
G |
7: 105,017,680 (GRCm39) |
Y49C |
probably damaging |
Het |
Or8a1b |
C |
T |
9: 37,623,204 (GRCm39) |
V124M |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,156,927 (GRCm39) |
Y637C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,071,924 (GRCm39) |
V306A |
probably damaging |
Het |
Pdzd9 |
G |
A |
7: 120,269,498 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,947,017 (GRCm39) |
D810V |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,392,304 (GRCm39) |
H1966L |
probably benign |
Het |
Pmfbp1 |
C |
T |
8: 110,247,661 (GRCm39) |
T319I |
possibly damaging |
Het |
Pramel28 |
T |
C |
4: 143,692,314 (GRCm39) |
Q229R |
probably benign |
Het |
Prb1c |
G |
C |
6: 132,338,856 (GRCm39) |
Q121E |
unknown |
Het |
Psg18 |
T |
A |
7: 18,087,450 (GRCm39) |
R69S |
possibly damaging |
Het |
Ptprg |
A |
T |
14: 12,213,638 (GRCm38) |
Q1002L |
possibly damaging |
Het |
Ptprj |
T |
C |
2: 90,290,984 (GRCm39) |
Y585C |
probably damaging |
Het |
Rad51c |
T |
C |
11: 87,293,542 (GRCm39) |
T105A |
probably benign |
Het |
Rbm12 |
A |
T |
2: 155,937,481 (GRCm39) |
D930E |
unknown |
Het |
Rlf |
A |
C |
4: 121,007,784 (GRCm39) |
S509A |
possibly damaging |
Het |
Slc39a3 |
C |
A |
10: 80,869,499 (GRCm39) |
G53C |
probably damaging |
Het |
Smchd1 |
G |
A |
17: 71,670,017 (GRCm39) |
Q1685* |
probably null |
Het |
Sprr2d |
A |
C |
3: 92,247,715 (GRCm39) |
E52A |
unknown |
Het |
Stat1 |
A |
G |
1: 52,182,086 (GRCm39) |
N355S |
probably damaging |
Het |
Tmem30b |
T |
C |
12: 73,592,923 (GRCm39) |
E64G |
probably benign |
Het |
Ttll11 |
A |
T |
2: 35,869,392 (GRCm39) |
V82D |
probably benign |
Het |
Ttn |
T |
A |
2: 76,570,977 (GRCm39) |
T26639S |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,727,725 (GRCm39) |
N952K |
probably benign |
Het |
Vmn1r199 |
T |
A |
13: 22,567,724 (GRCm39) |
H339Q |
possibly damaging |
Het |
Vps13b |
G |
A |
15: 35,422,537 (GRCm39) |
D166N |
probably damaging |
Het |
Zfp954 |
C |
A |
7: 7,119,097 (GRCm39) |
C149F |
probably benign |
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 |
|
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 |
|
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'- TGCCACCCAAAGCAATGTTG -3'
(R):5'- GTCACTAACTTTGAGGAACATACTC -3'
Sequencing Primer
(F):5'- TTGGTTCTAGAACACAGGTCCCAAG -3'
(R):5'- CCCAAGACTTTGCTAAGAATGTGCTC -3'
|
Posted On |
2021-11-19 |