Incidental Mutation 'R6579:Scgn'
ID |
523946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scgn
|
Ensembl Gene |
ENSMUSG00000021337 |
Gene Name |
secretagogin, EF-hand calcium binding protein |
Synonyms |
|
MMRRC Submission |
044703-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6579 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24137439-24175197 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24143717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 216
(A216T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021770]
[ENSMUST00000142826]
|
AlphaFold |
Q91WD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021770
AA Change: A216T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021770 Gene: ENSMUSG00000021337 AA Change: A216T
Domain | Start | End | E-Value | Type |
EFh
|
16 |
44 |
3.97e1 |
SMART |
Blast:EFh
|
62 |
90 |
6e-6 |
BLAST |
EFh
|
109 |
137 |
8.63e-6 |
SMART |
EFh
|
153 |
181 |
1.74e-1 |
SMART |
EFh
|
201 |
229 |
4.28e0 |
SMART |
EFh
|
244 |
273 |
7.79e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142826
AA Change: A59T
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154766
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226031
|
Meta Mutation Damage Score |
0.1096 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (36/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Scgn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01553:Scgn
|
APN |
13 |
24,143,662 (GRCm39) |
missense |
probably benign |
|
IGL02109:Scgn
|
APN |
13 |
24,137,948 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0865:Scgn
|
UTSW |
13 |
24,146,102 (GRCm39) |
splice site |
probably null |
|
R1761:Scgn
|
UTSW |
13 |
24,143,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Scgn
|
UTSW |
13 |
24,162,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R2026:Scgn
|
UTSW |
13 |
24,175,047 (GRCm39) |
start gained |
probably benign |
|
R4940:Scgn
|
UTSW |
13 |
24,173,807 (GRCm39) |
missense |
probably benign |
|
R5008:Scgn
|
UTSW |
13 |
24,174,958 (GRCm39) |
missense |
probably damaging |
0.97 |
R7191:Scgn
|
UTSW |
13 |
24,165,476 (GRCm39) |
missense |
probably benign |
0.00 |
R7455:Scgn
|
UTSW |
13 |
24,150,848 (GRCm39) |
missense |
probably benign |
0.06 |
R7571:Scgn
|
UTSW |
13 |
24,137,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R9341:Scgn
|
UTSW |
13 |
24,173,829 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9343:Scgn
|
UTSW |
13 |
24,173,829 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9473:Scgn
|
UTSW |
13 |
24,143,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9559:Scgn
|
UTSW |
13 |
24,137,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAATGCCTCCAGACCTTTC -3'
(R):5'- TGCAGAGCAGTGCTGATTTG -3'
Sequencing Primer
(F):5'- CCAGACCTTTCTCTCCAGTATTAATC -3'
(R):5'- ATGAAGGATTCTTTTCATTCCTGCG -3'
|
Posted On |
2018-06-22 |