Incidental Mutation 'IGL02128:Scpppq1'
ID |
280960 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Scpppq1
|
Ensembl Gene |
ENSMUSG00000091034 |
Gene Name |
secretory calcium-binding phosphoprotein proline-glutamine rich 1 |
Synonyms |
Gm17660 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL02128
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
104217930-104225474 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 104222569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031249]
[ENSMUST00000164471]
[ENSMUST00000178967]
[ENSMUST00000198485]
|
AlphaFold |
B9UIU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031249
|
SMART Domains |
Protein: ENSMUSP00000031249 Gene: ENSMUSG00000029309
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
low complexity region
|
90 |
101 |
N/A |
INTRINSIC |
low complexity region
|
192 |
210 |
N/A |
INTRINSIC |
low complexity region
|
330 |
340 |
N/A |
INTRINSIC |
low complexity region
|
372 |
381 |
N/A |
INTRINSIC |
FOLN
|
418 |
441 |
2.33e-5 |
SMART |
KAZAL
|
441 |
495 |
3.62e-11 |
SMART |
Pfam:SPARC_Ca_bdg
|
498 |
636 |
2.8e-44 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164471
|
SMART Domains |
Protein: ENSMUSP00000132880 Gene: ENSMUSG00000091034
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
low complexity region
|
36 |
62 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000178967
|
SMART Domains |
Protein: ENSMUSP00000136896 Gene: ENSMUSG00000091034
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
low complexity region
|
36 |
62 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198340
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198485
|
SMART Domains |
Protein: ENSMUSP00000143623 Gene: ENSMUSG00000091034
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
low complexity region
|
36 |
62 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad1 |
A |
T |
19: 32,664,727 (GRCm39) |
|
probably benign |
Het |
Bard1 |
T |
C |
1: 71,114,387 (GRCm39) |
K198R |
possibly damaging |
Het |
Brca1 |
A |
G |
11: 101,421,808 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,817,093 (GRCm39) |
E406G |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cxcr2 |
A |
G |
1: 74,198,153 (GRCm39) |
T216A |
probably benign |
Het |
Dnah7a |
C |
T |
1: 53,476,672 (GRCm39) |
S3424N |
probably damaging |
Het |
Golgb1 |
T |
G |
16: 36,736,666 (GRCm39) |
L1971R |
probably damaging |
Het |
Hspg2 |
T |
G |
4: 137,291,327 (GRCm39) |
C3892W |
probably damaging |
Het |
Jmjd1c |
T |
C |
10: 67,079,648 (GRCm39) |
L2214P |
probably damaging |
Het |
Klkb1 |
A |
T |
8: 45,740,068 (GRCm39) |
F75I |
probably damaging |
Het |
Loxl3 |
T |
A |
6: 83,027,564 (GRCm39) |
V702E |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,711,135 (GRCm39) |
N60I |
possibly damaging |
Het |
Pex5 |
A |
T |
6: 124,375,419 (GRCm39) |
N534K |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,578,178 (GRCm39) |
L383Q |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,417,608 (GRCm39) |
V1168A |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,773,550 (GRCm39) |
E285G |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,872,398 (GRCm39) |
N1171I |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,070,645 (GRCm39) |
I744V |
probably benign |
Het |
|
Other mutations in Scpppq1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0499:Scpppq1
|
UTSW |
5 |
104,222,747 (GRCm39) |
nonsense |
probably null |
|
R1707:Scpppq1
|
UTSW |
5 |
104,222,099 (GRCm39) |
unclassified |
probably benign |
|
R6543:Scpppq1
|
UTSW |
5 |
104,222,741 (GRCm39) |
unclassified |
probably benign |
|
R6848:Scpppq1
|
UTSW |
5 |
104,222,603 (GRCm39) |
unclassified |
probably benign |
|
R7375:Scpppq1
|
UTSW |
5 |
104,219,123 (GRCm39) |
splice site |
probably null |
|
R8711:Scpppq1
|
UTSW |
5 |
104,219,956 (GRCm39) |
missense |
unknown |
|
RF005:Scpppq1
|
UTSW |
5 |
104,222,725 (GRCm39) |
critical splice donor site |
probably null |
|
RF024:Scpppq1
|
UTSW |
5 |
104,222,725 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-04-16 |