Incidental Mutation 'IGL02012:Scrn3'
| ID |
183409 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scrn3
|
| Ensembl Gene |
ENSMUSG00000008226 |
| Gene Name |
secernin 3 |
| Synonyms |
4833415E20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
73142980-73168158 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 73148773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090811]
[ENSMUST00000112050]
|
| AlphaFold |
Q3TMH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090811
|
| SMART Domains |
Protein: ENSMUSP00000088320
Gene: ENSMUSG00000008226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C69
|
50 |
268 |
4.7e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112050
|
| SMART Domains |
Protein: ENSMUSP00000107681
Gene: ENSMUSG00000008226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C69
|
14 |
185 |
9.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155019
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,266,214 (GRCm39) |
D309E |
possibly damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,701 (GRCm39) |
C40S |
possibly damaging |
Het |
| Cops8 |
T |
C |
1: 90,539,956 (GRCm39) |
V204A |
probably damaging |
Het |
| Cstdc5 |
T |
G |
16: 36,187,802 (GRCm39) |
D21A |
possibly damaging |
Het |
| Dchs1 |
T |
G |
7: 105,413,504 (GRCm39) |
T1104P |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,435,529 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
G |
A |
11: 22,051,218 (GRCm39) |
P420S |
probably damaging |
Het |
| Eif1ad |
T |
G |
19: 5,418,687 (GRCm39) |
V80G |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,577 (GRCm39) |
Y3004H |
possibly damaging |
Het |
| Fbxo11 |
C |
T |
17: 88,320,079 (GRCm39) |
R211Q |
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,810,499 (GRCm39) |
N146S |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,199,662 (GRCm39) |
N334K |
probably benign |
Het |
| Gm45234 |
C |
A |
6: 124,723,011 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,323,069 (GRCm39) |
F1157I |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,167,638 (GRCm39) |
W64L |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,126,152 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,973,894 (GRCm39) |
I390T |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,674,764 (GRCm39) |
V351M |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,491 (GRCm39) |
I635M |
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,104 (GRCm39) |
L431P |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,847 (GRCm39) |
N463S |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,158 (GRCm39) |
C182R |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,333 (GRCm39) |
V3068A |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,022 (GRCm39) |
S88T |
probably benign |
Het |
| Prx |
A |
G |
7: 27,217,326 (GRCm39) |
E748G |
probably damaging |
Het |
| Trmt10b |
G |
A |
4: 45,315,045 (GRCm39) |
R292H |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,529,462 (GRCm39) |
|
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,445,070 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Scrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation