Incidental Mutation 'R5852:Scrn3'
ID |
454711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scrn3
|
Ensembl Gene |
ENSMUSG00000008226 |
Gene Name |
secernin 3 |
Synonyms |
4833415E20Rik |
MMRRC Submission |
043227-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5852 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
73142980-73168158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73161349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 312
(F312L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090811]
|
AlphaFold |
Q3TMH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090811
AA Change: F312L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000088320 Gene: ENSMUSG00000008226 AA Change: F312L
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C69
|
50 |
268 |
4.7e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123621
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154158
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
possibly damaging |
Het |
|
Other mutations in Scrn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02012:Scrn3
|
APN |
2 |
73,148,773 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02676:Scrn3
|
APN |
2 |
73,160,215 (GRCm39) |
missense |
probably benign |
|
PIT4445001:Scrn3
|
UTSW |
2 |
73,148,673 (GRCm39) |
missense |
possibly damaging |
0.90 |
PIT4519001:Scrn3
|
UTSW |
2 |
73,161,347 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4519001:Scrn3
|
UTSW |
2 |
73,148,768 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2105:Scrn3
|
UTSW |
2 |
73,160,196 (GRCm39) |
missense |
probably damaging |
0.96 |
R3973:Scrn3
|
UTSW |
2 |
73,166,121 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3974:Scrn3
|
UTSW |
2 |
73,166,121 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3975:Scrn3
|
UTSW |
2 |
73,166,121 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4206:Scrn3
|
UTSW |
2 |
73,149,845 (GRCm39) |
critical splice donor site |
probably null |
|
R5340:Scrn3
|
UTSW |
2 |
73,166,154 (GRCm39) |
nonsense |
probably null |
|
R5545:Scrn3
|
UTSW |
2 |
73,166,125 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6819:Scrn3
|
UTSW |
2 |
73,149,826 (GRCm39) |
missense |
probably damaging |
0.98 |
R7664:Scrn3
|
UTSW |
2 |
73,149,714 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8260:Scrn3
|
UTSW |
2 |
73,166,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Scrn3
|
UTSW |
2 |
73,160,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8450:Scrn3
|
UTSW |
2 |
73,160,113 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8906:Scrn3
|
UTSW |
2 |
73,161,355 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8906:Scrn3
|
UTSW |
2 |
73,161,352 (GRCm39) |
missense |
probably benign |
0.34 |
R8915:Scrn3
|
UTSW |
2 |
73,148,636 (GRCm39) |
missense |
probably damaging |
0.99 |
R9355:Scrn3
|
UTSW |
2 |
73,166,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTAAATGACACGGCAC -3'
(R):5'- CGGTGGGTCTGAGAATAACTATTTC -3'
Sequencing Primer
(F):5'- CCGGGCACAATACAAGAT -3'
(R):5'- TCTTCATGAAAGACAAAAAGAAAGC -3'
|
Posted On |
2017-02-10 |