Incidental Mutation 'IGL01397:Ppp4r3b'
ID |
79514 |
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 # |
IGL01397
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
29122890-29170797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 29163594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 722
(A722V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020755]
[ENSMUST00000102856]
[ENSMUST00000127621]
|
AlphaFold |
Q922R5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020755
AA Change: A722V
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000020755 Gene: ENSMUSG00000020463 AA Change: A722V
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
Afap1 |
T |
A |
5: 36,126,052 (GRCm39) |
V349E |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
Dennd2d |
G |
T |
3: 106,394,365 (GRCm39) |
|
probably null |
Het |
Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
Fgd2 |
A |
G |
17: 29,586,949 (GRCm39) |
E293G |
probably damaging |
Het |
Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
Glb1l3 |
C |
T |
9: 26,736,491 (GRCm39) |
D524N |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,294,719 (GRCm39) |
R201W |
probably damaging |
Het |
Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,224,959 (GRCm39) |
D683G |
probably benign |
Het |
Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
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 |
|
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 |
2013-11-05 |