Incidental Mutation 'IGL02173:Pced1a'
| ID |
282969 |
| 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 # |
IGL02173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130259603-130266692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130264248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 164
(V164A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000089581
AA Change: V164A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: V164A
| 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 |
possibly damaging
Transcript: ENSMUST00000110277
AA Change: V164A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: V164A
| 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: ENSMUST00000153663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142536
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
| 4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
| Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
| Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
| Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
| Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
| Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
| Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
| Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
| Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
| Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
| Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
| Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
| Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation