Incidental Mutation 'IGL01732:Phldb3'
ID |
105524 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phldb3
|
Ensembl Gene |
ENSMUSG00000074277 |
Gene Name |
pleckstrin homology like domain, family B, member 3 |
Synonyms |
Gm10102, EG232970 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
IGL01732
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24326751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 593
(E593G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073325]
[ENSMUST00000206422]
|
AlphaFold |
E9QAF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073325
AA Change: E593G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073047 Gene: ENSMUSG00000074277 AA Change: E593G
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
47 |
N/A |
INTRINSIC |
low complexity region
|
61 |
74 |
N/A |
INTRINSIC |
coiled coil region
|
111 |
302 |
N/A |
INTRINSIC |
low complexity region
|
364 |
374 |
N/A |
INTRINSIC |
Blast:PH
|
389 |
447 |
2e-29 |
BLAST |
Blast:PH
|
457 |
488 |
4e-6 |
BLAST |
low complexity region
|
490 |
514 |
N/A |
INTRINSIC |
PH
|
541 |
645 |
1.54e-14 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205857
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206422
AA Change: E593G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
Klc2 |
C |
T |
19: 5,159,825 (GRCm39) |
R458Q |
probably damaging |
Het |
Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,487,366 (GRCm39) |
K666E |
probably damaging |
Het |
Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
Snx19 |
C |
A |
9: 30,373,649 (GRCm39) |
T904K |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
Trmt13 |
A |
G |
3: 116,375,113 (GRCm39) |
L465S |
probably damaging |
Het |
Ube2j2 |
T |
G |
4: 156,041,788 (GRCm39) |
V249G |
probably damaging |
Het |
Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
Zc3h6 |
T |
C |
2: 128,853,795 (GRCm39) |
I430T |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
probably benign |
Het |
|
Other mutations in Phldb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Phldb3
|
APN |
7 |
24,328,295 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01683:Phldb3
|
APN |
7 |
24,318,862 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01765:Phldb3
|
APN |
7 |
24,316,800 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03103:Phldb3
|
APN |
7 |
24,323,601 (GRCm39) |
missense |
possibly damaging |
0.71 |
FR4548:Phldb3
|
UTSW |
7 |
24,328,403 (GRCm39) |
makesense |
probably null |
|
R0052:Phldb3
|
UTSW |
7 |
24,312,004 (GRCm39) |
missense |
probably benign |
0.01 |
R0230:Phldb3
|
UTSW |
7 |
24,312,004 (GRCm39) |
missense |
probably benign |
0.01 |
R0234:Phldb3
|
UTSW |
7 |
24,312,004 (GRCm39) |
missense |
probably benign |
0.01 |
R0655:Phldb3
|
UTSW |
7 |
24,323,797 (GRCm39) |
missense |
probably benign |
0.07 |
R1731:Phldb3
|
UTSW |
7 |
24,318,660 (GRCm39) |
missense |
probably benign |
0.10 |
R1935:Phldb3
|
UTSW |
7 |
24,316,832 (GRCm39) |
missense |
probably benign |
0.01 |
R1936:Phldb3
|
UTSW |
7 |
24,316,832 (GRCm39) |
missense |
probably benign |
0.01 |
R2155:Phldb3
|
UTSW |
7 |
24,312,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R2410:Phldb3
|
UTSW |
7 |
24,323,719 (GRCm39) |
missense |
probably benign |
0.01 |
R4249:Phldb3
|
UTSW |
7 |
24,326,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R4501:Phldb3
|
UTSW |
7 |
24,311,986 (GRCm39) |
missense |
probably benign |
|
R4665:Phldb3
|
UTSW |
7 |
24,310,852 (GRCm39) |
missense |
probably benign |
0.00 |
R4916:Phldb3
|
UTSW |
7 |
24,323,716 (GRCm39) |
missense |
probably benign |
|
R4970:Phldb3
|
UTSW |
7 |
24,324,110 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5017:Phldb3
|
UTSW |
7 |
24,319,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Phldb3
|
UTSW |
7 |
24,324,110 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5864:Phldb3
|
UTSW |
7 |
24,323,571 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5881:Phldb3
|
UTSW |
7 |
24,326,147 (GRCm39) |
critical splice donor site |
probably null |
|
R6176:Phldb3
|
UTSW |
7 |
24,326,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R6756:Phldb3
|
UTSW |
7 |
24,326,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6800:Phldb3
|
UTSW |
7 |
24,323,577 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7223:Phldb3
|
UTSW |
7 |
24,324,078 (GRCm39) |
missense |
probably benign |
|
R7485:Phldb3
|
UTSW |
7 |
24,310,689 (GRCm39) |
start gained |
probably benign |
|
R7707:Phldb3
|
UTSW |
7 |
24,326,022 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8094:Phldb3
|
UTSW |
7 |
24,326,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R8437:Phldb3
|
UTSW |
7 |
24,328,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R9099:Phldb3
|
UTSW |
7 |
24,323,727 (GRCm39) |
missense |
probably benign |
0.08 |
R9126:Phldb3
|
UTSW |
7 |
24,326,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R9137:Phldb3
|
UTSW |
7 |
24,310,723 (GRCm39) |
start gained |
probably benign |
|
R9151:Phldb3
|
UTSW |
7 |
24,324,048 (GRCm39) |
splice site |
probably benign |
|
R9375:Phldb3
|
UTSW |
7 |
24,323,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9418:Phldb3
|
UTSW |
7 |
24,328,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Phldb3
|
UTSW |
7 |
24,328,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Phldb3
|
UTSW |
7 |
24,328,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Phldb3
|
UTSW |
7 |
24,328,372 (GRCm39) |
missense |
probably damaging |
1.00 |
RF010:Phldb3
|
UTSW |
7 |
24,325,920 (GRCm39) |
frame shift |
probably null |
|
RF031:Phldb3
|
UTSW |
7 |
24,325,918 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2014-01-21 |