Incidental Mutation 'R4157:Ppp4r3a'
ID |
315596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r3a
|
Ensembl Gene |
ENSMUSG00000041846 |
Gene Name |
protein phosphatase 4 regulatory subunit 3A |
Synonyms |
1110034C04Rik, Smek1 |
MMRRC Submission |
041000-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R4157 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101021878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 341
(F341L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048305]
[ENSMUST00000163095]
[ENSMUST00000223091]
|
AlphaFold |
Q6P2K6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048305
AA Change: F341L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041667 Gene: ENSMUSG00000041846 AA Change: F341L
Domain | Start | End | E-Value | Type |
SCOP:d1k5db_
|
7 |
96 |
3e-24 |
SMART |
Pfam:SMK-1
|
164 |
357 |
5.8e-85 |
PFAM |
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
low complexity region
|
495 |
503 |
N/A |
INTRINSIC |
low complexity region
|
705 |
720 |
N/A |
INTRINSIC |
low complexity region
|
753 |
770 |
N/A |
INTRINSIC |
low complexity region
|
795 |
808 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163095
AA Change: F341L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129654 Gene: ENSMUSG00000041846 AA Change: F341L
Domain | Start | End | E-Value | Type |
SCOP:d1k5db_
|
7 |
96 |
4e-24 |
SMART |
Pfam:SMK-1
|
166 |
357 |
2.5e-84 |
PFAM |
low complexity region
|
508 |
516 |
N/A |
INTRINSIC |
low complexity region
|
718 |
733 |
N/A |
INTRINSIC |
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223161
|
Meta Mutation Damage Score |
0.2798 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
G |
T |
9: 90,070,414 (GRCm39) |
R585L |
probably damaging |
Het |
Adamtsl5 |
C |
T |
10: 80,181,156 (GRCm39) |
R75Q |
probably null |
Het |
Ankrd26 |
T |
A |
6: 118,484,782 (GRCm39) |
Q1485L |
probably damaging |
Het |
Apbb2 |
G |
A |
5: 66,459,947 (GRCm39) |
R717* |
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,365,591 (GRCm39) |
E735G |
probably damaging |
Het |
Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
C4b |
A |
G |
17: 34,961,829 (GRCm39) |
I139T |
probably damaging |
Het |
Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
Cdk8 |
A |
T |
5: 146,236,259 (GRCm39) |
|
probably benign |
Het |
Ctif |
T |
C |
18: 75,568,341 (GRCm39) |
H599R |
probably benign |
Het |
Degs1 |
A |
G |
1: 182,110,192 (GRCm39) |
I26T |
possibly damaging |
Het |
Dnajc4 |
T |
C |
19: 6,967,208 (GRCm39) |
N72S |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
Inpp5f |
C |
T |
7: 128,281,423 (GRCm39) |
|
probably benign |
Het |
Irx4 |
A |
T |
13: 73,413,662 (GRCm39) |
Q44L |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,079,475 (GRCm39) |
Y639F |
unknown |
Het |
Lgals9 |
C |
A |
11: 78,863,933 (GRCm39) |
V71L |
possibly damaging |
Het |
Mdga1 |
T |
C |
17: 30,052,317 (GRCm39) |
N143S |
probably benign |
Het |
Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
Nup50l |
C |
G |
6: 96,142,264 (GRCm39) |
W260S |
possibly damaging |
Het |
Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
Orm2 |
T |
A |
4: 63,282,222 (GRCm39) |
F133L |
probably null |
Het |
Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,021,279 (GRCm39) |
V333A |
possibly damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,642,175 (GRCm39) |
S875T |
probably damaging |
Het |
Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Snx22 |
T |
C |
9: 65,975,493 (GRCm39) |
Y92C |
probably damaging |
Het |
Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
Swt1 |
A |
T |
1: 151,278,795 (GRCm39) |
V454E |
probably damaging |
Het |
Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,384,491 (GRCm38) |
N80S |
probably benign |
Het |
Trim7 |
T |
C |
11: 48,738,920 (GRCm39) |
V313A |
probably benign |
Het |
Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,790,013 (GRCm39) |
|
probably null |
Het |
Utp20 |
A |
G |
10: 88,597,729 (GRCm39) |
V121A |
probably benign |
Het |
Wdr20 |
G |
A |
12: 110,704,608 (GRCm39) |
R49H |
possibly damaging |
Het |
Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
Zfp398 |
A |
T |
6: 47,812,843 (GRCm39) |
T5S |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
Zfp523 |
C |
T |
17: 28,421,257 (GRCm39) |
A367V |
probably benign |
Het |
Zfp748 |
G |
A |
13: 67,690,225 (GRCm39) |
S345L |
possibly damaging |
Het |
|
Other mutations in Ppp4r3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Ppp4r3a
|
APN |
12 |
101,016,053 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00532:Ppp4r3a
|
APN |
12 |
101,010,912 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01359:Ppp4r3a
|
APN |
12 |
101,024,755 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01873:Ppp4r3a
|
APN |
12 |
101,008,094 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02676:Ppp4r3a
|
APN |
12 |
101,008,770 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02756:Ppp4r3a
|
APN |
12 |
101,024,582 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03196:Ppp4r3a
|
APN |
12 |
101,015,913 (GRCm39) |
splice site |
probably benign |
|
IGL03206:Ppp4r3a
|
APN |
12 |
101,024,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R1101:Ppp4r3a
|
UTSW |
12 |
101,017,830 (GRCm39) |
missense |
probably damaging |
0.98 |
R1434:Ppp4r3a
|
UTSW |
12 |
101,009,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R1526:Ppp4r3a
|
UTSW |
12 |
101,007,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R1554:Ppp4r3a
|
UTSW |
12 |
101,022,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1650:Ppp4r3a
|
UTSW |
12 |
101,010,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R1766:Ppp4r3a
|
UTSW |
12 |
101,024,741 (GRCm39) |
missense |
probably damaging |
0.99 |
R2152:Ppp4r3a
|
UTSW |
12 |
101,008,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R2322:Ppp4r3a
|
UTSW |
12 |
101,008,878 (GRCm39) |
missense |
probably damaging |
0.98 |
R2421:Ppp4r3a
|
UTSW |
12 |
101,008,912 (GRCm39) |
splice site |
probably benign |
|
R2422:Ppp4r3a
|
UTSW |
12 |
101,008,912 (GRCm39) |
splice site |
probably benign |
|
R2859:Ppp4r3a
|
UTSW |
12 |
101,008,906 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2884:Ppp4r3a
|
UTSW |
12 |
101,034,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R4651:Ppp4r3a
|
UTSW |
12 |
101,049,170 (GRCm39) |
utr 5 prime |
probably benign |
|
R4652:Ppp4r3a
|
UTSW |
12 |
101,049,170 (GRCm39) |
utr 5 prime |
probably benign |
|
R4706:Ppp4r3a
|
UTSW |
12 |
101,008,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Ppp4r3a
|
UTSW |
12 |
101,049,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4775:Ppp4r3a
|
UTSW |
12 |
101,019,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R5467:Ppp4r3a
|
UTSW |
12 |
101,009,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R5634:Ppp4r3a
|
UTSW |
12 |
101,009,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5704:Ppp4r3a
|
UTSW |
12 |
101,049,619 (GRCm39) |
utr 5 prime |
probably benign |
|
R5707:Ppp4r3a
|
UTSW |
12 |
101,024,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Ppp4r3a
|
UTSW |
12 |
101,017,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5969:Ppp4r3a
|
UTSW |
12 |
101,009,838 (GRCm39) |
missense |
probably benign |
|
R6030:Ppp4r3a
|
UTSW |
12 |
101,024,659 (GRCm39) |
missense |
probably damaging |
0.97 |
R6030:Ppp4r3a
|
UTSW |
12 |
101,024,659 (GRCm39) |
missense |
probably damaging |
0.97 |
R6630:Ppp4r3a
|
UTSW |
12 |
101,016,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Ppp4r3a
|
UTSW |
12 |
101,019,770 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7352:Ppp4r3a
|
UTSW |
12 |
101,008,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R7402:Ppp4r3a
|
UTSW |
12 |
101,025,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7761:Ppp4r3a
|
UTSW |
12 |
101,022,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R7808:Ppp4r3a
|
UTSW |
12 |
101,019,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7811:Ppp4r3a
|
UTSW |
12 |
101,019,821 (GRCm39) |
missense |
probably damaging |
0.98 |
R8062:Ppp4r3a
|
UTSW |
12 |
101,008,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R8222:Ppp4r3a
|
UTSW |
12 |
101,008,164 (GRCm39) |
missense |
probably benign |
0.09 |
R8409:Ppp4r3a
|
UTSW |
12 |
101,008,752 (GRCm39) |
missense |
probably benign |
0.02 |
R8435:Ppp4r3a
|
UTSW |
12 |
101,049,048 (GRCm39) |
missense |
probably benign |
0.19 |
R8471:Ppp4r3a
|
UTSW |
12 |
101,021,901 (GRCm39) |
missense |
probably benign |
0.01 |
R9010:Ppp4r3a
|
UTSW |
12 |
101,024,591 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9137:Ppp4r3a
|
UTSW |
12 |
101,021,794 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9335:Ppp4r3a
|
UTSW |
12 |
101,007,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R9336:Ppp4r3a
|
UTSW |
12 |
101,015,919 (GRCm39) |
missense |
probably benign |
|
R9666:Ppp4r3a
|
UTSW |
12 |
101,049,129 (GRCm39) |
start codon destroyed |
probably null |
0.39 |
R9752:Ppp4r3a
|
UTSW |
12 |
101,008,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGGCGATTATAAACACTGGG -3'
(R):5'- TTGCACAACTAACAGATGAAGC -3'
Sequencing Primer
(F):5'- GGACGTGGTATCATTTCAAACAGTG -3'
(R):5'- CAACTAACAGATGAAGCAACAGATG -3'
|
Posted On |
2015-05-14 |