Incidental Mutation 'R0743:Nebl'
ID |
70752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
038924-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0743 (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 C
at 17415929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 327
(S327A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121313
(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 |
probably benign
Transcript: ENSMUST00000124270
AA Change: S362A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: S362A
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 benign
Transcript: ENSMUST00000131957
AA Change: S327A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118525 Gene: ENSMUSG00000053702 AA Change: S327A
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 benign
Transcript: ENSMUST00000132418
AA Change: S327A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122024 Gene: ENSMUSG00000053702 AA Change: S327A
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: S327A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121313 Gene: ENSMUSG00000053702 AA Change: S327A
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: 98.6%
- 10x: 96.7%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,155,996 (GRCm39) |
F76L |
probably damaging |
Het |
Csmd2 |
A |
T |
4: 128,007,469 (GRCm39) |
T149S |
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
Dnm2 |
T |
A |
9: 21,411,561 (GRCm39) |
Y597N |
probably damaging |
Het |
Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,786,987 (GRCm39) |
I59F |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
Kif5b |
G |
T |
18: 6,209,192 (GRCm39) |
R857S |
probably damaging |
Het |
Kmt5a |
C |
A |
5: 124,585,282 (GRCm39) |
N44K |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
Mep1b |
A |
G |
18: 21,213,515 (GRCm39) |
D68G |
possibly damaging |
Het |
Nfat5 |
G |
A |
8: 108,094,698 (GRCm39) |
E962K |
probably damaging |
Het |
Nfatc4 |
A |
C |
14: 56,064,101 (GRCm39) |
D126A |
probably damaging |
Het |
Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
Npepps |
A |
G |
11: 97,096,884 (GRCm39) |
|
probably benign |
Het |
Nphp3 |
GCATCATCATCATCATC |
GCATCATCATCATC |
9: 103,899,967 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
Or6c66 |
T |
A |
10: 129,461,712 (GRCm39) |
T73S |
probably benign |
Het |
Or8h10 |
G |
A |
2: 86,808,843 (GRCm39) |
T99I |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,882,248 (GRCm39) |
L37H |
probably damaging |
Het |
Padi3 |
G |
T |
4: 140,513,740 (GRCm39) |
A646D |
probably benign |
Het |
Pamr1 |
A |
G |
2: 102,440,252 (GRCm39) |
E142G |
probably damaging |
Het |
Papolg |
A |
T |
11: 23,820,818 (GRCm39) |
|
probably null |
Het |
Pate8 |
T |
C |
9: 36,492,597 (GRCm39) |
S103G |
probably benign |
Het |
Pfkl |
C |
T |
10: 77,831,077 (GRCm39) |
|
probably null |
Het |
Plrg1 |
T |
C |
3: 82,967,224 (GRCm39) |
S132P |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,134 (GRCm39) |
I103N |
probably damaging |
Het |
Prr14l |
C |
A |
5: 32,988,538 (GRCm39) |
C319F |
possibly damaging |
Het |
Prtn3 |
T |
A |
10: 79,715,511 (GRCm39) |
M1K |
probably null |
Het |
Ptpn22 |
T |
C |
3: 103,809,487 (GRCm39) |
F700S |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,044,366 (GRCm39) |
Q1273* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,309,734 (GRCm39) |
L2091F |
possibly damaging |
Het |
Senp6 |
C |
T |
9: 80,000,871 (GRCm39) |
R27C |
probably damaging |
Het |
Shcbp1 |
T |
A |
8: 4,814,906 (GRCm39) |
M191L |
probably benign |
Het |
Sirt4 |
T |
C |
5: 115,621,014 (GRCm39) |
K53E |
probably benign |
Het |
Slc10a2 |
A |
G |
8: 5,139,132 (GRCm39) |
S271P |
probably damaging |
Het |
Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
Slc38a10 |
C |
T |
11: 120,031,469 (GRCm39) |
V103M |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,723,759 (GRCm39) |
I1479F |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,355 (GRCm39) |
V987A |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tmem39a |
A |
T |
16: 38,405,764 (GRCm39) |
I200F |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,613 (GRCm39) |
T23760M |
probably damaging |
Het |
Uqcrc1 |
C |
T |
9: 108,773,773 (GRCm39) |
Q22* |
probably null |
Het |
Wdtc1 |
A |
G |
4: 133,027,972 (GRCm39) |
W377R |
probably damaging |
Het |
Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAACGCCTCTGCTTGATAGCTC -3'
(R):5'- TGTTCGGCCCTTGTATGTCACTAAC -3'
Sequencing Primer
(F):5'- ACAAGGTCCTGAAGCTTGTC -3'
(R):5'- Ttgttgggaattgaacccaagac -3'
|
Posted On |
2013-09-30 |