Incidental Mutation 'IGL00495:Ppp4r3b'
| ID |
6073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp4r3b
|
| Ensembl Gene |
ENSMUSG00000020463 |
| Gene Name |
protein phosphatase 4 regulatory subunit 3B |
| Synonyms |
Smek2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00495
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
29122890-29170797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 29161782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 719
(T719P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000127621]
|
| AlphaFold |
Q922R5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020755
AA Change: T719P
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: T719P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
7 |
96 |
2e-24 |
SMART |
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
Pfam:SMK-1
|
168 |
359 |
3.6e-84 |
PFAM |
|
low complexity region
|
511 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102856
|
| SMART Domains |
Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k5db_
|
7 |
96 |
2e-25 |
SMART |
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
Pfam:SMK-1
|
166 |
359 |
3.8e-87 |
PFAM |
|
low complexity region
|
511 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127621
|
| SMART Domains |
Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148759
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
| Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
| Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
| Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
| Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
| Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
| Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
| Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
| Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
| Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
| Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
| Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
| Other mutations in Ppp4r3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Ppp4r3b
|
APN |
11 |
29,147,205 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01109:Ppp4r3b
|
APN |
11 |
29,138,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01311:Ppp4r3b
|
APN |
11 |
29,144,591 (GRCm39) |
missense |
probably benign |
|
|
IGL01397:Ppp4r3b
|
APN |
11 |
29,163,594 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01546:Ppp4r3b
|
APN |
11 |
29,159,488 (GRCm39) |
splice site |
probably null |
|
|
IGL02588:Ppp4r3b
|
APN |
11 |
29,148,853 (GRCm39) |
nonsense |
probably null |
|
|
IGL02713:Ppp4r3b
|
APN |
11 |
29,138,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02717:Ppp4r3b
|
APN |
11 |
29,123,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
brando
|
UTSW |
11 |
29,161,667 (GRCm39) |
missense |
probably benign |
|
|
Debatable
|
UTSW |
11 |
29,159,436 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Kindness
|
UTSW |
11 |
29,123,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
Maris
|
UTSW |
11 |
29,159,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stella
|
UTSW |
11 |
29,146,290 (GRCm39) |
missense |
probably null |
|
|
PIT1430001:Ppp4r3b
|
UTSW |
11 |
29,159,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4677001:Ppp4r3b
|
UTSW |
11 |
29,137,978 (GRCm39) |
missense |
probably benign |
|
|
R0766:Ppp4r3b
|
UTSW |
11 |
29,123,358 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1170:Ppp4r3b
|
UTSW |
11 |
29,159,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1312:Ppp4r3b
|
UTSW |
11 |
29,123,358 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1511:Ppp4r3b
|
UTSW |
11 |
29,132,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Ppp4r3b
|
UTSW |
11 |
29,138,123 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1699:Ppp4r3b
|
UTSW |
11 |
29,163,765 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2303:Ppp4r3b
|
UTSW |
11 |
29,150,741 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2339:Ppp4r3b
|
UTSW |
11 |
29,150,725 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4378:Ppp4r3b
|
UTSW |
11 |
29,159,450 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4940:Ppp4r3b
|
UTSW |
11 |
29,161,740 (GRCm39) |
missense |
probably benign |
|
|
R5256:Ppp4r3b
|
UTSW |
11 |
29,138,293 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5266:Ppp4r3b
|
UTSW |
11 |
29,123,309 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5286:Ppp4r3b
|
UTSW |
11 |
29,161,667 (GRCm39) |
missense |
probably benign |
|
|
R5354:Ppp4r3b
|
UTSW |
11 |
29,161,646 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5877:Ppp4r3b
|
UTSW |
11 |
29,159,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Ppp4r3b
|
UTSW |
11 |
29,138,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6539:Ppp4r3b
|
UTSW |
11 |
29,168,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6773:Ppp4r3b
|
UTSW |
11 |
29,155,639 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6931:Ppp4r3b
|
UTSW |
11 |
29,161,786 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7051:Ppp4r3b
|
UTSW |
11 |
29,132,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Ppp4r3b
|
UTSW |
11 |
29,148,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:Ppp4r3b
|
UTSW |
11 |
29,138,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7741:Ppp4r3b
|
UTSW |
11 |
29,155,701 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7746:Ppp4r3b
|
UTSW |
11 |
29,123,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Ppp4r3b
|
UTSW |
11 |
29,138,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8129:Ppp4r3b
|
UTSW |
11 |
29,159,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Ppp4r3b
|
UTSW |
11 |
29,123,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8685:Ppp4r3b
|
UTSW |
11 |
29,159,436 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8910:Ppp4r3b
|
UTSW |
11 |
29,146,290 (GRCm39) |
missense |
probably null |
|
|
R8928:Ppp4r3b
|
UTSW |
11 |
29,144,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8947:Ppp4r3b
|
UTSW |
11 |
29,150,758 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8954:Ppp4r3b
|
UTSW |
11 |
29,155,669 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8991:Ppp4r3b
|
UTSW |
11 |
29,123,306 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R9068:Ppp4r3b
|
UTSW |
11 |
29,159,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9225:Ppp4r3b
|
UTSW |
11 |
29,155,648 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9417:Ppp4r3b
|
UTSW |
11 |
29,144,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Ppp4r3b
|
UTSW |
11 |
29,124,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9635:Ppp4r3b
|
UTSW |
11 |
29,138,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation