Incidental Mutation 'R3079:Nebl'
| ID |
265318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nebl
|
| Ensembl Gene |
ENSMUSG00000053702 |
| Gene Name |
nebulette |
| Synonyms |
Lnebl, D830029A09Rik, A630080F05Rik, 1200007O21Rik |
| MMRRC Submission |
040569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3079 (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 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
| Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
| Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,432,540 (GRCm39) |
Y474* |
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
| Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
| Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
| Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
| Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
| Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,983 (GRCm39) |
D193G |
possibly damaging |
Het |
| Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
| Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,870 (GRCm39) |
T259A |
probably benign |
Het |
| Slc66a1 |
G |
T |
4: 139,033,829 (GRCm39) |
A30D |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
| Syt4 |
A |
G |
18: 31,574,738 (GRCm39) |
V293A |
probably benign |
Het |
| Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
| Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
| Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Wbp2 |
C |
T |
11: 115,970,534 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
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 |
|
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'- CTCATGTTCAGTGAAGTACATCAG -3'
(R):5'- CTGTCCTGGTGAGTGAGAAGAG -3'
Sequencing Primer
(F):5'- TGAGTCATTGCTTAAACAAACTAGAG -3'
(R):5'- TCCTATCCCAAAATGAAATAGATGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation