Incidental Mutation 'R2441:Pced1b'
| ID |
249798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pced1b
|
| Ensembl Gene |
ENSMUSG00000044250 |
| Gene Name |
PC-esterase domain containing 1B |
| Synonyms |
Fam113b |
| MMRRC Submission |
040399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R2441 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97144988-97283561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97282166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 68
(D68E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059433]
[ENSMUST00000226495]
[ENSMUST00000228521]
|
| AlphaFold |
Q8BGX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059433
AA Change: D68E
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000055485
Gene: ENSMUSG00000044250
AA Change: D68E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
1 |
254 |
5.1e-53 |
PFAM |
|
low complexity region
|
295 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226495
AA Change: D68E
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228521
AA Change: D68E
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
| Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
| Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,332 (GRCm39) |
G206D |
possibly damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,304,594 (GRCm39) |
R216W |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
| Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,103,509 (GRCm39) |
I127V |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,631,210 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
| Tesmin |
G |
A |
19: 3,452,577 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,923 (GRCm39) |
Y15* |
probably null |
Het |
| Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
| Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
Het |
|
| Other mutations in Pced1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1661:Pced1b
|
UTSW |
15 |
97,282,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1699:Pced1b
|
UTSW |
15 |
97,282,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Pced1b
|
UTSW |
15 |
97,282,505 (GRCm39) |
nonsense |
probably null |
|
|
R3154:Pced1b
|
UTSW |
15 |
97,282,423 (GRCm39) |
splice site |
probably null |
|
|
R3907:Pced1b
|
UTSW |
15 |
97,282,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:Pced1b
|
UTSW |
15 |
97,282,675 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5455:Pced1b
|
UTSW |
15 |
97,282,274 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5902:Pced1b
|
UTSW |
15 |
97,282,970 (GRCm39) |
nonsense |
probably null |
|
|
R5936:Pced1b
|
UTSW |
15 |
97,283,063 (GRCm39) |
nonsense |
probably null |
|
|
R5936:Pced1b
|
UTSW |
15 |
97,283,061 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5988:Pced1b
|
UTSW |
15 |
97,282,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Pced1b
|
UTSW |
15 |
97,282,679 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6868:Pced1b
|
UTSW |
15 |
97,282,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7128:Pced1b
|
UTSW |
15 |
97,282,479 (GRCm39) |
nonsense |
probably null |
|
|
R9582:Pced1b
|
UTSW |
15 |
97,282,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCGAAGTACAGCAGCTAC -3'
(R):5'- TGTAGCTACTCAAGGAATTCCGC -3'
Sequencing Primer
(F):5'- GCAGCTACTCCACAACAAGTTTG -3'
(R):5'- ATACCTGGAGACGTCCCAGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation