Incidental Mutation 'R1317:Scg3'
| ID |
157572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scg3
|
| Ensembl Gene |
ENSMUSG00000032181 |
| Gene Name |
secretogranin III |
| Synonyms |
SgIII, 1B1075, Chgd |
| MMRRC Submission |
039383-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1317 (G1)
|
| Quality Score |
119 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
75550471-75591338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75576622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 251
(T251M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034699]
[ENSMUST00000213324]
|
| AlphaFold |
P47867 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034699
AA Change: T251M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034699
Gene: ENSMUSG00000032181
AA Change: T251M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SGIII
|
20 |
471 |
1.3e-215 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194973
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213324
AA Change: T251M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215603
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous knockout causes dysregulation of the secretion of active peptide hormones from endocrine cells, exacerbating the adverse effects of inadequate diet (obesity, diabetes) and stress conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
|
| Other mutations in Scg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Scg3
|
APN |
9 |
75,570,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Scg3
|
APN |
9 |
75,590,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03391:Scg3
|
APN |
9 |
75,568,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0137:Scg3
|
UTSW |
9 |
75,570,462 (GRCm39) |
unclassified |
probably benign |
|
|
R0366:Scg3
|
UTSW |
9 |
75,582,620 (GRCm39) |
splice site |
probably benign |
|
|
R0650:Scg3
|
UTSW |
9 |
75,576,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0654:Scg3
|
UTSW |
9 |
75,573,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Scg3
|
UTSW |
9 |
75,551,222 (GRCm39) |
nonsense |
probably null |
|
|
R0827:Scg3
|
UTSW |
9 |
75,590,979 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1553:Scg3
|
UTSW |
9 |
75,576,586 (GRCm39) |
missense |
probably null |
1.00 |
|
R1751:Scg3
|
UTSW |
9 |
75,576,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Scg3
|
UTSW |
9 |
75,584,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Scg3
|
UTSW |
9 |
75,589,449 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2059:Scg3
|
UTSW |
9 |
75,572,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2137:Scg3
|
UTSW |
9 |
75,584,092 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2384:Scg3
|
UTSW |
9 |
75,573,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Scg3
|
UTSW |
9 |
75,582,781 (GRCm39) |
splice site |
probably benign |
|
|
R4260:Scg3
|
UTSW |
9 |
75,558,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Scg3
|
UTSW |
9 |
75,568,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Scg3
|
UTSW |
9 |
75,576,538 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6013:Scg3
|
UTSW |
9 |
75,584,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Scg3
|
UTSW |
9 |
75,568,664 (GRCm39) |
nonsense |
probably null |
|
|
R7202:Scg3
|
UTSW |
9 |
75,590,992 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7211:Scg3
|
UTSW |
9 |
75,589,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7471:Scg3
|
UTSW |
9 |
75,589,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Scg3
|
UTSW |
9 |
75,576,559 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7651:Scg3
|
UTSW |
9 |
75,589,332 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7904:Scg3
|
UTSW |
9 |
75,551,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Scg3
|
UTSW |
9 |
75,570,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Scg3
|
UTSW |
9 |
75,558,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9785:Scg3
|
UTSW |
9 |
75,589,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Scg3
|
UTSW |
9 |
75,576,598 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCGTTGGGAACCATGAACAG -3'
(R):5'- TCGTCCAGACACAAATGCTGCC -3'
Sequencing Primer
(F):5'- ACACACTTTCAAGAATTTCCGTC -3'
(R):5'- CTGCCTGAAAGTTCCAAAGTGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation