Incidental Mutation 'IGL02588:Ppp4r3b'
| ID |
299625 |
| 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 # |
IGL02588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
29122890-29170797 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 29148853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 25
(G25*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000127621]
|
| AlphaFold |
Q922R5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020755
AA Change: G432*
|
| SMART Domains |
Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: G432*
| 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 null
Transcript: ENSMUST00000102856
AA Change: G432*
|
| SMART Domains |
Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: G432*
| 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 null
Transcript: ENSMUST00000127621
AA Change: G25*
|
| SMART Domains |
Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463
AA Change: G25*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139283
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 52,933,282 (GRCm39) |
W258* |
probably null |
Het |
| Ankmy2 |
T |
C |
12: 36,226,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 38,734,670 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
A |
G |
11: 120,568,357 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cdh15 |
C |
A |
8: 123,583,291 (GRCm39) |
Y31* |
probably null |
Het |
| Cnih3 |
A |
G |
1: 181,237,269 (GRCm39) |
R76G |
probably benign |
Het |
| Cplx1 |
C |
A |
5: 108,673,289 (GRCm39) |
R44L |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,576,300 (GRCm39) |
I597F |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,916,479 (GRCm39) |
F4231L |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,156,565 (GRCm39) |
L173R |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,687 (GRCm38) |
Y353N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,360,395 (GRCm39) |
L247Q |
probably damaging |
Het |
| Gm10912 |
C |
T |
2: 103,897,197 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,673 (GRCm39) |
L541H |
probably damaging |
Het |
| Gpld1 |
C |
T |
13: 25,127,682 (GRCm39) |
T28I |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,239,609 (GRCm39) |
|
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,999 (GRCm39) |
D249G |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,116 (GRCm39) |
N403S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,105 (GRCm39) |
L246* |
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Nlrp4c |
A |
T |
7: 6,087,647 (GRCm39) |
D760V |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,348,843 (GRCm38) |
|
noncoding transcript |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,855,226 (GRCm39) |
|
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,080,042 (GRCm39) |
|
probably benign |
Het |
| Or52d1 |
C |
T |
7: 103,756,260 (GRCm39) |
T258I |
possibly damaging |
Het |
| Papolg |
T |
A |
11: 23,840,252 (GRCm39) |
I75F |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,321,536 (GRCm39) |
K462E |
possibly damaging |
Het |
| Plod1 |
A |
T |
4: 147,997,747 (GRCm39) |
L654* |
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,659,732 (GRCm39) |
D1307G |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,167,361 (GRCm39) |
V1034A |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,813,712 (GRCm39) |
L319Q |
probably damaging |
Het |
| Retnlg |
A |
G |
16: 48,693,255 (GRCm39) |
T11A |
probably benign |
Het |
| Rfc3 |
A |
T |
5: 151,566,381 (GRCm39) |
F356Y |
possibly damaging |
Het |
| Rnf213 |
G |
T |
11: 119,307,362 (GRCm39) |
C674F |
probably benign |
Het |
| Shcbp1l |
A |
G |
1: 153,304,411 (GRCm39) |
K157E |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,451 (GRCm39) |
C233R |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,834,511 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St14 |
C |
A |
9: 31,001,329 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
A |
7: 18,776,550 (GRCm39) |
V481M |
probably benign |
Het |
| Timeless |
T |
A |
10: 128,079,203 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,542 (GRCm39) |
H106L |
probably benign |
Het |
| Zbtb45 |
A |
T |
7: 12,740,204 (GRCm39) |
C470* |
probably null |
Het |
|
| Other mutations in Ppp4r3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Ppp4r3b
|
APN |
11 |
29,161,782 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation