Incidental Mutation 'R4001:Ppp4r3c1'
| ID |
312496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r3c1
|
| Ensembl Gene |
ENSMUSG00000035387 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3C1 |
| Synonyms |
4930415L06Rik |
| MMRRC Submission |
040844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R4001 (G1)
|
| Quality Score |
222 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,428 (GRCm39) |
T94S |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,187 (GRCm39) |
N1023S |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,759 (GRCm39) |
R153* |
probably null |
Het |
| Lpcat4 |
A |
T |
2: 112,070,296 (GRCm39) |
Q3L |
probably benign |
Het |
| Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
| Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
| Rbms2 |
C |
T |
10: 127,987,169 (GRCm39) |
S13N |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,405,533 (GRCm39) |
N353S |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
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 |
|
R2381:Ppp4r3c1
|
UTSW |
X |
88,974,116 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
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'- TAGCAGAAGCATCCCCATGAG -3'
(R):5'- ACGTCTCTGATTGTAAACATTGTGG -3'
Sequencing Primer
(F):5'- GATGGACAACATTCAGAAGCTTC -3'
(R):5'- GGGCTTTTAAATCAATTGAGTATGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation