Incidental Mutation 'R1638:Nebl'
ID |
173281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
039674-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1638 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17381462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 738
(V738A)
|
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 |
possibly damaging
Transcript: ENSMUST00000124270
AA Change: V738A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: V738A
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 |
|
Meta Mutation Damage Score |
0.2793 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.8%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
Agfg1 |
A |
T |
1: 82,871,259 (GRCm39) |
Q497L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,986,813 (GRCm39) |
H2699R |
probably benign |
Het |
Antxrl |
G |
T |
14: 33,792,453 (GRCm39) |
|
probably null |
Het |
Apol7c |
A |
T |
15: 77,410,418 (GRCm39) |
V176E |
probably damaging |
Het |
Arid5b |
T |
C |
10: 68,113,777 (GRCm39) |
N87D |
possibly damaging |
Het |
Atp2c1 |
A |
T |
9: 105,309,897 (GRCm39) |
I560N |
probably damaging |
Het |
Atp2c2 |
T |
C |
8: 120,482,742 (GRCm39) |
F868S |
possibly damaging |
Het |
Blnk |
G |
C |
19: 40,926,122 (GRCm39) |
F326L |
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,089,961 (GRCm39) |
R4130* |
probably null |
Het |
Ckap2 |
C |
T |
8: 22,665,812 (GRCm39) |
V412I |
possibly damaging |
Het |
Clmn |
A |
G |
12: 104,748,281 (GRCm39) |
V422A |
probably benign |
Het |
Ctnnal1 |
A |
G |
4: 56,813,856 (GRCm39) |
S638P |
probably benign |
Het |
Cyp2j5 |
T |
C |
4: 96,524,052 (GRCm39) |
S327G |
probably benign |
Het |
Dhx38 |
G |
A |
8: 110,280,177 (GRCm39) |
T871M |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,023,834 (GRCm39) |
K1706* |
probably null |
Het |
Dnah11 |
A |
G |
12: 117,979,154 (GRCm39) |
L2648P |
possibly damaging |
Het |
Elf2 |
G |
A |
3: 51,215,530 (GRCm39) |
T60I |
probably damaging |
Het |
Fam120b |
T |
A |
17: 15,622,759 (GRCm39) |
C246S |
possibly damaging |
Het |
Fcho2 |
G |
T |
13: 98,882,403 (GRCm39) |
T451K |
possibly damaging |
Het |
Fzd9 |
T |
A |
5: 135,278,602 (GRCm39) |
I428F |
probably damaging |
Het |
Galnt13 |
T |
A |
2: 54,744,667 (GRCm39) |
V122E |
probably damaging |
Het |
Gm21738 |
T |
A |
14: 19,418,908 (GRCm38) |
Y8F |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,272,029 (GRCm39) |
I940V |
possibly damaging |
Het |
Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
Gpr6 |
A |
G |
10: 40,946,530 (GRCm39) |
S351P |
probably benign |
Het |
Gprin1 |
T |
C |
13: 54,887,689 (GRCm39) |
E195G |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 28,125,882 (GRCm39) |
Y81* |
probably null |
Het |
Gtf3c3 |
A |
T |
1: 54,444,278 (GRCm39) |
N703K |
probably damaging |
Het |
Hhipl2 |
G |
A |
1: 183,208,921 (GRCm39) |
V495I |
probably benign |
Het |
Islr |
G |
A |
9: 58,065,502 (GRCm39) |
|
probably benign |
Het |
Lrrc36 |
T |
C |
8: 106,176,273 (GRCm39) |
Y216H |
possibly damaging |
Het |
Macroh2a1 |
T |
A |
13: 56,252,722 (GRCm39) |
N87Y |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,906,205 (GRCm39) |
I528T |
probably benign |
Het |
Mecr |
A |
T |
4: 131,585,127 (GRCm39) |
I156F |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,346,967 (GRCm39) |
|
probably benign |
Het |
Mn1 |
T |
A |
5: 111,569,435 (GRCm39) |
L1135H |
probably damaging |
Het |
Naip5 |
A |
G |
13: 100,349,177 (GRCm39) |
S1384P |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,102,213 (GRCm39) |
N337S |
probably benign |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Neb |
A |
T |
2: 52,139,293 (GRCm39) |
H3107Q |
probably benign |
Het |
Nsd2 |
G |
A |
5: 34,039,464 (GRCm39) |
R825Q |
possibly damaging |
Het |
Nsun2 |
A |
G |
13: 69,775,705 (GRCm39) |
N383S |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 77,897,036 (GRCm39) |
M667K |
probably damaging |
Het |
Or10a48 |
A |
C |
7: 108,424,442 (GRCm39) |
C255G |
probably benign |
Het |
Or11h6 |
G |
A |
14: 50,880,565 (GRCm39) |
V276M |
possibly damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,974 (GRCm39) |
Y60H |
possibly damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,488 (GRCm39) |
M131L |
probably benign |
Het |
Pex6 |
T |
C |
17: 47,033,558 (GRCm39) |
V633A |
probably benign |
Het |
Phactr1 |
C |
T |
13: 43,110,147 (GRCm39) |
T95M |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
Pkhd1l1 |
A |
C |
15: 44,460,513 (GRCm39) |
I4241L |
probably benign |
Het |
Ppwd1 |
T |
C |
13: 104,356,771 (GRCm39) |
E248G |
probably damaging |
Het |
Prepl |
A |
C |
17: 85,379,509 (GRCm39) |
M393R |
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,698,148 (GRCm39) |
S532G |
probably benign |
Het |
Rnase11 |
G |
T |
14: 51,287,058 (GRCm39) |
H165Q |
possibly damaging |
Het |
Sf1 |
A |
G |
19: 6,422,090 (GRCm39) |
N172S |
possibly damaging |
Het |
Shprh |
T |
A |
10: 11,032,822 (GRCm39) |
D269E |
probably benign |
Het |
Slc16a1 |
T |
C |
3: 104,556,798 (GRCm39) |
I61T |
possibly damaging |
Het |
Slc38a2 |
A |
C |
15: 96,590,417 (GRCm39) |
I309S |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,663,149 (GRCm39) |
Q170H |
unknown |
Het |
Stk3 |
A |
C |
15: 35,008,454 (GRCm39) |
|
probably null |
Het |
Tg |
C |
A |
15: 66,568,015 (GRCm39) |
C1306* |
probably null |
Het |
Tnik |
A |
G |
3: 28,719,889 (GRCm39) |
M1254V |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,366,280 (GRCm39) |
E474G |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,639,587 (GRCm39) |
F55I |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,529,939 (GRCm39) |
I279T |
possibly damaging |
Het |
Zc2hc1a |
A |
G |
3: 7,581,543 (GRCm39) |
D15G |
probably benign |
Het |
Zfp827 |
C |
A |
8: 79,802,975 (GRCm39) |
P516T |
possibly damaging |
Het |
Zfyve9 |
A |
T |
4: 108,542,104 (GRCm39) |
|
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 |
|
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'- CCCGCATGGGGTATGAAATCTACTAAG -3'
(R):5'- ACTGATGATGCACTGGAGCCTGTC -3'
Sequencing Primer
(F):5'- TGCACAGCTTTCCAGAATAACTG -3'
(R):5'- TGAGAAGAGGGACACTCCTATCC -3'
|
Posted On |
2014-04-24 |