Incidental Mutation 'IGL00420:Pced1a'
| ID |
7030 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pced1a
|
| Ensembl Gene |
ENSMUSG00000037773 |
| Gene Name |
PC-esterase domain containing 1A |
| Synonyms |
A930025D01Rik, Fam113a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130259603-130266692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130261098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 420
(C420S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089581]
[ENSMUST00000110277]
|
| AlphaFold |
Q6P1Z5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089581
AA Change: C420S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: C420S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
18 |
267 |
4e-52 |
PFAM |
|
low complexity region
|
308 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110277
AA Change: C420S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: C420S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
21 |
268 |
3.8e-51 |
PFAM |
|
low complexity region
|
308 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153663
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,931,078 (GRCm39) |
S170T |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,887 (GRCm39) |
Q443K |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,301 (GRCm39) |
E388G |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,752,020 (GRCm39) |
S1753P |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,724 (GRCm39) |
I343N |
probably damaging |
Het |
| Ctif |
T |
G |
18: 75,570,247 (GRCm39) |
M551L |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,143 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,725,226 (GRCm39) |
T1131I |
probably damaging |
Het |
| Gm13941 |
G |
A |
2: 110,922,193 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,130,220 (GRCm39) |
E319G |
possibly damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,697,231 (GRCm39) |
|
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,089 (GRCm39) |
E1593G |
probably benign |
Het |
| Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,125,727 (GRCm39) |
M20K |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,040,347 (GRCm39) |
N960K |
possibly damaging |
Het |
| Osgin1 |
T |
A |
8: 120,171,785 (GRCm39) |
V193E |
probably damaging |
Het |
| Pkd2l1 |
C |
T |
19: 44,146,075 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,186,498 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
G |
5: 99,172,400 (GRCm39) |
V105A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,599 (GRCm39) |
I518T |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,677,917 (GRCm39) |
V150D |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,593,001 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,422,837 (GRCm39) |
E354G |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,722,114 (GRCm39) |
L257I |
probably benign |
Het |
| Slc2a8 |
G |
T |
2: 32,863,636 (GRCm39) |
Q469K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,553,550 (GRCm39) |
V519A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,359,955 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
C |
6: 137,722,521 (GRCm39) |
S219P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,950,967 (GRCm39) |
I1636V |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,087,355 (GRCm39) |
R126C |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,205,501 (GRCm39) |
I94N |
probably damaging |
Het |
| Trps1 |
G |
T |
15: 50,710,266 (GRCm39) |
T28K |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
| Vapb |
G |
A |
2: 173,619,964 (GRCm39) |
V228M |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,055,424 (GRCm39) |
D506E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,792 (GRCm39) |
C350* |
probably null |
Het |
| Zfp51 |
A |
T |
17: 21,683,714 (GRCm39) |
M110L |
probably benign |
Het |
| Zfp687 |
G |
A |
3: 94,919,727 (GRCm39) |
A15V |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,287 (GRCm39) |
T436A |
possibly damaging |
Het |
|
| Other mutations in Pced1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02173:Pced1a
|
APN |
2 |
130,264,248 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02547:Pced1a
|
APN |
2 |
130,261,627 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02729:Pced1a
|
APN |
2 |
130,263,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03107:Pced1a
|
APN |
2 |
130,264,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0139:Pced1a
|
UTSW |
2 |
130,263,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Pced1a
|
UTSW |
2 |
130,261,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0578:Pced1a
|
UTSW |
2 |
130,261,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3037:Pced1a
|
UTSW |
2 |
130,261,779 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3157:Pced1a
|
UTSW |
2 |
130,261,687 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4578:Pced1a
|
UTSW |
2 |
130,264,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Pced1a
|
UTSW |
2 |
130,261,091 (GRCm39) |
missense |
probably benign |
|
|
R6210:Pced1a
|
UTSW |
2 |
130,263,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Pced1a
|
UTSW |
2 |
130,263,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7459:Pced1a
|
UTSW |
2 |
130,261,744 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7524:Pced1a
|
UTSW |
2 |
130,263,948 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7744:Pced1a
|
UTSW |
2 |
130,263,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Pced1a
|
UTSW |
2 |
130,264,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7851:Pced1a
|
UTSW |
2 |
130,264,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8300:Pced1a
|
UTSW |
2 |
130,266,157 (GRCm39) |
unclassified |
probably benign |
|
|
R8404:Pced1a
|
UTSW |
2 |
130,265,577 (GRCm39) |
unclassified |
probably benign |
|
|
R8502:Pced1a
|
UTSW |
2 |
130,265,577 (GRCm39) |
unclassified |
probably benign |
|
|
R8990:Pced1a
|
UTSW |
2 |
130,264,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Pced1a
|
UTSW |
2 |
130,261,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Pced1a
|
UTSW |
2 |
130,264,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation