Incidental Mutation 'R5545:Scrn3'
| ID |
436178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scrn3
|
| Ensembl Gene |
ENSMUSG00000008226 |
| Gene Name |
secernin 3 |
| Synonyms |
4833415E20Rik |
| MMRRC Submission |
043103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5545 (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 A
at 73166125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 386
(I386N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090811]
|
| AlphaFold |
Q3TMH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090811
AA Change: I386N
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088320
Gene: ENSMUSG00000008226
AA Change: I386N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C69
|
50 |
268 |
4.7e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123621
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
C |
3: 145,644,853 (GRCm39) |
|
probably null |
Het |
| Acot5 |
G |
A |
12: 84,116,380 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,292,594 (GRCm39) |
Y205F |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,041,235 (GRCm39) |
Y564C |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Cyp20a1 |
T |
C |
1: 60,415,241 (GRCm39) |
I289T |
possibly damaging |
Het |
| Herc6 |
A |
T |
6: 57,634,992 (GRCm39) |
|
probably null |
Het |
| Ifnar2 |
G |
A |
16: 91,181,913 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
A |
G |
6: 21,217,018 (GRCm39) |
T241A |
probably damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,989,642 (GRCm39) |
E247D |
possibly damaging |
Het |
| Or2k2 |
T |
G |
4: 58,785,585 (GRCm39) |
I46L |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,453 (GRCm39) |
C204Y |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,940 (GRCm39) |
I61V |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,061,886 (GRCm39) |
E638G |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,376,257 (GRCm39) |
T160A |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,879,339 (GRCm39) |
N613I |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,709,830 (GRCm39) |
S1498G |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,157,099 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Robo2 |
A |
C |
16: 73,758,635 (GRCm39) |
V712G |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,017,514 (GRCm39) |
F151L |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,902,921 (GRCm39) |
Y1591F |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,637,720 (GRCm39) |
V93G |
possibly damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,583 (GRCm39) |
I116T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,594,720 (GRCm39) |
Q12115R |
possibly damaging |
Het |
| Ube3a |
C |
T |
7: 58,921,772 (GRCm39) |
T48M |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,742,992 (GRCm39) |
I401V |
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,064,830 (GRCm39) |
R1744H |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,966,315 (GRCm39) |
D604G |
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 |
|
|
R5852:Scrn3
|
UTSW |
2 |
73,161,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCTGCCTGTTCATTGGTACC -3'
(R):5'- TAATCAGATCTCCTTAGCATAGCTC -3'
Sequencing Primer
(F):5'- CTGAAGGTCCTGAGTTAAATCCCAG -3'
(R):5'- GCTCTATATCATTACCAGGGCAGTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation