Incidental Mutation 'R8317:Nebl'
ID |
641728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nebl
|
Ensembl Gene |
ENSMUSG00000053702 |
Gene Name |
nebulette |
Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
MMRRC Submission |
067721-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8317 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
17348720-17736275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17355568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 195
(M195T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028080]
[ENSMUST00000124270]
|
AlphaFold |
Q0II04 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028080
AA Change: M195T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028080 Gene: ENSMUSG00000053702 AA Change: M195T
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 damaging
Transcript: ENSMUST00000124270
AA Change: M939T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117805 Gene: ENSMUSG00000053702 AA Change: M939T
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 |
|
SMART Domains |
Protein: ENSMUSP00000116065 Gene: ENSMUSG00000053702 AA Change: M130T
Domain | Start | End | E-Value | Type |
NEBU
|
3 |
33 |
4.88e-10 |
SMART |
NEBU
|
39 |
69 |
3.82e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,723,236 (GRCm39) |
V621M |
probably damaging |
Het |
Adipor1 |
C |
T |
1: 134,355,905 (GRCm39) |
R235W |
probably benign |
Het |
Agbl1 |
T |
A |
7: 76,071,929 (GRCm39) |
M594K |
unknown |
Het |
Ang2 |
A |
G |
14: 51,433,349 (GRCm39) |
V11A |
probably benign |
Het |
Ccl25 |
A |
G |
8: 4,404,138 (GRCm39) |
N80S |
probably benign |
Het |
Cd19 |
A |
T |
7: 126,012,615 (GRCm39) |
C259* |
probably null |
Het |
Cd209b |
A |
T |
8: 3,972,018 (GRCm39) |
I177N |
probably damaging |
Het |
Cdc20 |
C |
A |
4: 118,294,323 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,147,037 (GRCm39) |
|
probably null |
Het |
Cdh23 |
G |
A |
10: 60,272,568 (GRCm39) |
R536W |
probably damaging |
Het |
Cfap299 |
A |
C |
5: 98,885,459 (GRCm39) |
H122P |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
Cilk1 |
T |
A |
9: 78,060,933 (GRCm39) |
V193E |
probably damaging |
Het |
Csl |
T |
G |
10: 99,594,900 (GRCm39) |
H55P |
probably damaging |
Het |
Cstf2t |
G |
A |
19: 31,061,648 (GRCm39) |
A395T |
probably benign |
Het |
Dhx58 |
A |
T |
11: 100,594,388 (GRCm39) |
I101N |
probably damaging |
Het |
Dlg5 |
A |
C |
14: 24,241,298 (GRCm39) |
S200A |
probably damaging |
Het |
Epb41 |
C |
A |
4: 131,684,961 (GRCm39) |
G86V |
|
Het |
Fat4 |
T |
C |
3: 39,012,659 (GRCm39) |
V2318A |
possibly damaging |
Het |
Fbxo32 |
A |
T |
15: 58,068,626 (GRCm39) |
F119I |
probably damaging |
Het |
Flacc1 |
T |
C |
1: 58,715,707 (GRCm39) |
K170E |
possibly damaging |
Het |
Fndc1 |
A |
T |
17: 8,019,720 (GRCm39) |
L153* |
probably null |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
Gpr63 |
A |
T |
4: 25,008,223 (GRCm39) |
T316S |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,304,538 (GRCm39) |
T665A |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,848,784 (GRCm39) |
N272S |
probably damaging |
Het |
Map3k1 |
T |
C |
13: 111,894,696 (GRCm39) |
Y660C |
probably damaging |
Het |
Mbd3l1 |
C |
A |
9: 18,396,117 (GRCm39) |
L81I |
probably benign |
Het |
Morc3 |
C |
A |
16: 93,659,417 (GRCm39) |
Q442K |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,569,339 (GRCm39) |
T1060I |
unknown |
Het |
Myh11 |
T |
A |
16: 14,025,941 (GRCm39) |
D1343V |
|
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Nbn |
T |
G |
4: 15,970,893 (GRCm39) |
L292W |
probably damaging |
Het |
Ndufb11b |
A |
G |
15: 81,864,978 (GRCm39) |
Y73C |
probably damaging |
Het |
Net1 |
T |
C |
13: 3,957,856 (GRCm39) |
K66E |
possibly damaging |
Het |
Nod1 |
T |
C |
6: 54,920,425 (GRCm39) |
Y631C |
probably damaging |
Het |
Nxf1 |
A |
G |
19: 8,748,407 (GRCm39) |
H12R |
probably benign |
Het |
Onecut3 |
T |
C |
10: 80,331,161 (GRCm39) |
L107P |
unknown |
Het |
Opa1 |
T |
G |
16: 29,432,962 (GRCm39) |
I512S |
probably damaging |
Het |
P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,592,530 (GRCm39) |
C1616R |
probably damaging |
Het |
Parn |
T |
G |
16: 13,358,964 (GRCm39) |
K593Q |
probably damaging |
Het |
Pcare |
A |
C |
17: 72,056,197 (GRCm39) |
L1160R |
probably benign |
Het |
Polr3g |
T |
C |
13: 81,826,302 (GRCm39) |
K173R |
unknown |
Het |
Prcp |
A |
G |
7: 92,524,598 (GRCm39) |
T18A |
probably benign |
Het |
Sash1 |
G |
A |
10: 8,605,150 (GRCm39) |
T1080M |
possibly damaging |
Het |
Skap2 |
A |
G |
6: 51,884,865 (GRCm39) |
|
probably null |
Het |
Spmip9 |
C |
A |
6: 70,890,276 (GRCm39) |
W172L |
possibly damaging |
Het |
Srebf1 |
C |
A |
11: 60,091,483 (GRCm39) |
S1014I |
possibly damaging |
Het |
Stk32b |
C |
T |
5: 37,612,319 (GRCm39) |
E356K |
probably damaging |
Het |
Tjp3 |
T |
A |
10: 81,116,324 (GRCm39) |
T257S |
probably benign |
Het |
Trf |
A |
G |
9: 103,094,715 (GRCm39) |
Y448H |
probably damaging |
Het |
Tsnaxip1 |
G |
C |
8: 106,554,438 (GRCm39) |
R7P |
probably benign |
Het |
Vmn1r208 |
G |
C |
13: 22,956,947 (GRCm39) |
I183M |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,500,994 (GRCm39) |
H469Q |
probably damaging |
Het |
Zbtb7a |
G |
C |
10: 80,980,784 (GRCm39) |
G326A |
probably benign |
Het |
Zfp493 |
G |
A |
13: 67,931,958 (GRCm39) |
R19H |
probably benign |
Het |
Zfp932 |
A |
T |
5: 110,156,922 (GRCm39) |
K207* |
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 |
|
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 |
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'- TTGTTTTGCTTCCATTGAAAGGAC -3'
(R):5'- GCAGAAATTGACTGACATTTTGAGATC -3'
Sequencing Primer
(F):5'- TTGCTTCCATTGAAAGGACTATATAC -3'
(R):5'- GACTAATCTGGAGACTGCCTGTAC -3'
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Posted On |
2020-07-28 |