Incidental Mutation 'IGL01748:Nbl1'
| ID |
153082 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nbl1
|
| Ensembl Gene |
ENSMUSG00000041120 |
| Gene Name |
NBL1, DAN family BMP antagonist |
| Synonyms |
DAN, Dana, D4H1S1733E, NO3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL01748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
138809595-138820304 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 138810921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042844]
|
| AlphaFold |
Q61477 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042844
|
| SMART Domains |
Protein: ENSMUSP00000045608
Gene: ENSMUSG00000041120
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
CT
|
36 |
123 |
3.84e-3 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132940
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene appear to have a normal nervous system, although one allele exhibits reduced sensitivity to pain during inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,420,206 (GRCm39) |
|
probably benign |
Het |
| Asb1 |
G |
A |
1: 91,480,008 (GRCm39) |
V236I |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,304 (GRCm39) |
R2337C |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,834 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
T |
C |
15: 77,836,546 (GRCm39) |
D323G |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,116 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
T |
A |
5: 25,452,513 (GRCm39) |
Y8* |
probably null |
Het |
| Gm42688 |
T |
A |
6: 83,080,001 (GRCm39) |
S275T |
possibly damaging |
Het |
| Grip2 |
C |
T |
6: 91,741,724 (GRCm39) |
G934R |
probably damaging |
Het |
| Igkv1-122 |
G |
T |
6: 67,994,456 (GRCm39) |
V115F |
possibly damaging |
Het |
| Iglon5 |
C |
T |
7: 43,125,953 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,875 (GRCm39) |
L130P |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,476 (GRCm39) |
N61D |
probably benign |
Het |
| Rfng |
A |
G |
11: 120,674,569 (GRCm39) |
M104T |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,150 (GRCm39) |
F1224S |
probably damaging |
Het |
| Strn4 |
C |
T |
7: 16,572,227 (GRCm39) |
P647S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,616,306 (GRCm39) |
V474A |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,470 (GRCm39) |
T80S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,770,150 (GRCm39) |
E2757G |
probably damaging |
Het |
| Vmn1r43 |
G |
T |
6: 89,847,294 (GRCm39) |
T64N |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,476 (GRCm39) |
I576N |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,507 (GRCm39) |
I803N |
probably damaging |
Het |
| Zfp341 |
T |
C |
2: 154,470,847 (GRCm39) |
V288A |
probably damaging |
Het |
|
| Other mutations in Nbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1303:Nbl1
|
UTSW |
4 |
138,812,778 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2109:Nbl1
|
UTSW |
4 |
138,810,915 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2408:Nbl1
|
UTSW |
4 |
138,810,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Nbl1
|
UTSW |
4 |
138,810,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Nbl1
|
UTSW |
4 |
138,812,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8903:Nbl1
|
UTSW |
4 |
138,810,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9605:Nbl1
|
UTSW |
4 |
138,812,608 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2014-02-04 |
Incidental Mutation