Incidental Mutation 'IGL01601:Chgb'
ID |
91786 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chgb
|
Ensembl Gene |
ENSMUSG00000027350 |
Gene Name |
chromogranin B |
Synonyms |
Scg-1, secretogranin I |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL01601
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
132623562-132636999 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 132635411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 451
(I451K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028826]
|
AlphaFold |
P16014 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028826
AA Change: I451K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000028826 Gene: ENSMUSG00000027350 AA Change: I451K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Granin
|
26 |
677 |
8.1e-238 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced catecholamine secretion from adrenal chromaffin cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
possibly damaging |
Het |
|
Other mutations in Chgb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03031:Chgb
|
APN |
2 |
132,635,434 (GRCm39) |
missense |
probably benign |
0.03 |
R0317:Chgb
|
UTSW |
2 |
132,635,731 (GRCm39) |
missense |
probably benign |
0.06 |
R0513:Chgb
|
UTSW |
2 |
132,627,897 (GRCm39) |
splice site |
probably benign |
|
R0607:Chgb
|
UTSW |
2 |
132,635,255 (GRCm39) |
missense |
probably benign |
|
R1177:Chgb
|
UTSW |
2 |
132,635,390 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1468:Chgb
|
UTSW |
2 |
132,634,720 (GRCm39) |
missense |
probably benign |
0.00 |
R1468:Chgb
|
UTSW |
2 |
132,634,720 (GRCm39) |
missense |
probably benign |
0.00 |
R1595:Chgb
|
UTSW |
2 |
132,635,657 (GRCm39) |
missense |
probably benign |
0.22 |
R1994:Chgb
|
UTSW |
2 |
132,628,418 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3861:Chgb
|
UTSW |
2 |
132,635,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R4074:Chgb
|
UTSW |
2 |
132,635,847 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4354:Chgb
|
UTSW |
2 |
132,635,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Chgb
|
UTSW |
2 |
132,635,219 (GRCm39) |
missense |
probably benign |
0.27 |
R4983:Chgb
|
UTSW |
2 |
132,635,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Chgb
|
UTSW |
2 |
132,635,453 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5711:Chgb
|
UTSW |
2 |
132,634,618 (GRCm39) |
missense |
probably benign |
0.00 |
R5946:Chgb
|
UTSW |
2 |
132,634,516 (GRCm39) |
missense |
probably benign |
|
R7116:Chgb
|
UTSW |
2 |
132,623,237 (GRCm39) |
start gained |
probably benign |
|
R8978:Chgb
|
UTSW |
2 |
132,634,498 (GRCm39) |
missense |
probably benign |
0.00 |
R9033:Chgb
|
UTSW |
2 |
132,634,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R9428:Chgb
|
UTSW |
2 |
132,635,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-09 |