Incidental Mutation 'R2183:Nebl'
| ID |
237271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nebl
|
| Ensembl Gene |
ENSMUSG00000053702 |
| Gene Name |
nebulette |
| Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
| MMRRC Submission |
040185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17409027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 357
(D357G)
|
| 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: D392G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117805
Gene: ENSMUSG00000053702
AA Change: D392G
| 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: D357G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118525
Gene: ENSMUSG00000053702
AA Change: D357G
| 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: D357G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122024
Gene: ENSMUSG00000053702
AA Change: D357G
| 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 damaging
Transcript: ENSMUST00000145492
AA Change: D357G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121313
Gene: ENSMUSG00000053702
AA Change: D357G
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
T |
C |
15: 102,454,908 (GRCm39) |
T287A |
possibly damaging |
Het |
| Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
| Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
| Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,498,189 (GRCm39) |
L402Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,660,462 (GRCm39) |
C41R |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,723 (GRCm39) |
Q100* |
probably null |
Het |
| Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
| Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
| Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbsn |
C |
A |
6: 92,166,618 (GRCm39) |
L675F |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
| Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
| Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
| Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
| Spart |
A |
G |
3: 55,024,554 (GRCm39) |
I50V |
probably benign |
Het |
| Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
| Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
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 |
|
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'- AATGCAAGGCTCCCTCAGTG -3'
(R):5'- ACATTCAGCATTGGAGGTGC -3'
Sequencing Primer
(F):5'- CCTCAGTGAGGGCCAGAATAAAG -3'
(R):5'- TTTTGGTAGAAGCCTGTAATTGAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation