Incidental Mutation 'IGL02729:Pced1a'
| ID |
305373 |
| 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 # |
IGL02729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130259603-130266692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130263823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 276
(H276Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028900]
[ENSMUST00000089581]
[ENSMUST00000110277]
[ENSMUST00000128994]
|
| AlphaFold |
Q6P1Z5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028900
|
| SMART Domains |
Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps16_N
|
4 |
420 |
1e-166 |
PFAM |
|
low complexity region
|
452 |
462 |
N/A |
INTRINSIC |
|
Pfam:Vps16_C
|
517 |
835 |
5.5e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089581
AA Change: H276Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: H276Q
| 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: H276Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: H276Q
| 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: ENSMUST00000125973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128994
|
| SMART Domains |
Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps16_N
|
4 |
212 |
3.2e-74 |
PFAM |
|
Pfam:Vps16_N
|
205 |
316 |
1e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131561
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,694 (GRCm39) |
Y209S |
probably damaging |
Het |
| Irf4 |
T |
C |
13: 30,937,574 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
| Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,742,795 (GRCm39) |
D604E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
| Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
| Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,034,082 (GRCm39) |
M1V |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
| Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
| Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
| Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
| Taf1b |
A |
G |
12: 24,597,624 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,397,285 (GRCm39) |
V3I |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
| Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
probably benign |
Het |
|
| Other mutations in Pced1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Pced1a
|
APN |
2 |
130,261,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation