Incidental Mutation 'R2381:Ppp4r3c1'
| ID |
248474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3c1
|
| Ensembl Gene |
ENSMUSG00000035387 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3C1 |
| Synonyms |
4930415L06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R2381 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
88973704-88976458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88974116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 694
(I694V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088146]
|
| AlphaFold |
Q3V0Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088146
AA Change: I694V
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: I694V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
18 |
107 |
1e-22 |
SMART |
|
Pfam:SMK-1
|
178 |
369 |
9e-72 |
PFAM |
|
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
791 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
806 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,186,887 (GRCm39) |
V541A |
probably benign |
Het |
| Dnajb1 |
T |
A |
8: 84,336,971 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,342,871 (GRCm39) |
K1405R |
probably benign |
Het |
| Dpys |
C |
A |
15: 39,705,450 (GRCm39) |
R221L |
probably damaging |
Het |
| Elapor2 |
C |
T |
5: 9,430,342 (GRCm39) |
P84L |
probably damaging |
Het |
| Gm12253 |
C |
T |
11: 58,326,284 (GRCm39) |
R100C |
probably damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,439 (GRCm39) |
S592R |
probably damaging |
Het |
| Lct |
G |
A |
1: 128,231,858 (GRCm39) |
Q664* |
probably null |
Het |
| Or7g28 |
T |
A |
9: 19,271,753 (GRCm39) |
E299D |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Pnpla7 |
A |
C |
2: 24,870,770 (GRCm39) |
K80T |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,250,128 (GRCm39) |
D105G |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,181,826 (GRCm39) |
I23T |
possibly damaging |
Het |
| Unc5c |
A |
G |
3: 141,383,916 (GRCm39) |
E98G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,935,658 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
G |
A |
7: 23,508,093 (GRCm39) |
T178I |
probably benign |
Het |
| Zgrf1 |
A |
T |
3: 127,349,863 (GRCm39) |
M15L |
probably benign |
Het |
|
| Other mutations in Ppp4r3c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02024:Ppp4r3c1
|
APN |
X |
88,975,129 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02226:Ppp4r3c1
|
APN |
X |
88,975,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1980:Ppp4r3c1
|
UTSW |
X |
88,975,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Ppp4r3c1
|
UTSW |
X |
88,975,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Ppp4r3c1
|
UTSW |
X |
88,975,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Ppp4r3c1
|
UTSW |
X |
88,976,005 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2895:Ppp4r3c1
|
UTSW |
X |
88,976,005 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2896:Ppp4r3c1
|
UTSW |
X |
88,976,005 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4001:Ppp4r3c1
|
UTSW |
X |
88,974,116 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4003:Ppp4r3c1
|
UTSW |
X |
88,974,116 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4042:Ppp4r3c1
|
UTSW |
X |
88,975,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Ppp4r3c1
|
UTSW |
X |
88,975,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4280:Ppp4r3c1
|
UTSW |
X |
88,976,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4281:Ppp4r3c1
|
UTSW |
X |
88,976,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Ppp4r3c1
|
UTSW |
X |
88,976,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ppp4r3c1
|
UTSW |
X |
88,973,843 (GRCm39) |
missense |
unknown |
|
|
Z1088:Ppp4r3c1
|
UTSW |
X |
88,973,842 (GRCm39) |
missense |
unknown |
|
|
Z1176:Ppp4r3c1
|
UTSW |
X |
88,973,847 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCATCCCCATGAGATG -3'
(R):5'- ACGTCTCTGATTGTAAACATTGTGG -3'
Sequencing Primer
(F):5'- TGGACAACATTCAGAAGCTTCAG -3'
(R):5'- GGGCTTTTAAATCAATTGAGTATGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation