Incidental Mutation 'IGL02676:Ppp4r3a'
| ID |
303134 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp4r3a
|
| Ensembl Gene |
ENSMUSG00000041846 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3A |
| Synonyms |
1110034C04Rik, Smek1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
IGL02676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
101005668-101049961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101008770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 703
(T703M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048305]
[ENSMUST00000163095]
[ENSMUST00000223091]
|
| AlphaFold |
Q6P2K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048305
AA Change: T690M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: T690M
| 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 benign
Transcript: ENSMUST00000163095
AA Change: T703M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: T703M
| 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 |
noncoding transcript
Transcript: ENSMUST00000220642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222956
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223091
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223459
AA Change: T79M
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
G |
A |
18: 34,448,687 (GRCm39) |
S1827N |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,680,316 (GRCm39) |
C739S |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,977 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,440,530 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,027,563 (GRCm39) |
L330Q |
probably damaging |
Het |
| Clcnka |
A |
T |
4: 141,120,094 (GRCm39) |
V275E |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,135,616 (GRCm39) |
S456N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,361 (GRCm39) |
I1909N |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,553,626 (GRCm39) |
I176T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,346,668 (GRCm39) |
R7717G |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,918,846 (GRCm39) |
R99* |
probably null |
Het |
| Fibin |
T |
C |
2: 110,192,929 (GRCm39) |
Q71R |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,812,501 (GRCm39) |
I2940S |
possibly damaging |
Het |
| Gabrb3 |
G |
T |
7: 57,241,112 (GRCm39) |
|
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl1 |
G |
A |
13: 26,953,348 (GRCm39) |
R242C |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,494,760 (GRCm39) |
T4110A |
probably benign |
Het |
| Lama2 |
T |
G |
10: 26,994,489 (GRCm39) |
M1807L |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,888,302 (GRCm39) |
V113A |
possibly damaging |
Het |
| Mkx |
T |
C |
18: 7,000,640 (GRCm39) |
T101A |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,718,491 (GRCm39) |
F15L |
probably damaging |
Het |
| Nherf2 |
A |
T |
17: 24,860,930 (GRCm39) |
V204E |
probably damaging |
Het |
| Nif3l1 |
G |
A |
1: 58,494,895 (GRCm39) |
|
probably null |
Het |
| Nop14 |
A |
G |
5: 34,796,565 (GRCm39) |
V764A |
probably damaging |
Het |
| Nosip |
C |
A |
7: 44,726,752 (GRCm39) |
A259E |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,341,300 (GRCm39) |
|
probably benign |
Het |
| Or9g20 |
T |
C |
2: 85,629,934 (GRCm39) |
I227V |
possibly damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,714 (GRCm39) |
G128D |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,342,667 (GRCm39) |
F258S |
possibly damaging |
Het |
| Pramel58 |
A |
G |
5: 94,831,730 (GRCm39) |
T246A |
possibly damaging |
Het |
| Prdm8 |
G |
A |
5: 98,334,418 (GRCm39) |
E662K |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,202 (GRCm39) |
S1775P |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,540,172 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,677,966 (GRCm39) |
T87A |
possibly damaging |
Het |
| Scrn3 |
A |
G |
2: 73,160,215 (GRCm39) |
Q286R |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,620,945 (GRCm39) |
Q517L |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,413 (GRCm39) |
Y425C |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
| Tcf3 |
C |
T |
10: 80,256,925 (GRCm39) |
G64R |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,750,380 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,946,448 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,025 (GRCm39) |
I193F |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,367,882 (GRCm39) |
T370I |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,381 (GRCm39) |
H845L |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,285,521 (GRCm39) |
T114S |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,242,356 (GRCm39) |
R661S |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,410 (GRCm39) |
I356T |
probably benign |
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 |
|
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 |
|
R4157:Ppp4r3a
|
UTSW |
12 |
101,021,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation