Incidental Mutation 'IGL03103:Phldb3'
| ID |
418839 |
| 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 # |
IGL03103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24323601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 445
(P445L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073325]
[ENSMUST00000206422]
|
| AlphaFold |
E9QAF4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073325
AA Change: P445L
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: P445L
| 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: ENSMUST00000205330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205857
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206422
AA Change: P445L
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc27 |
A |
T |
11: 104,403,806 (GRCm39) |
F652Y |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,972,817 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
A |
G |
7: 87,959,013 (GRCm39) |
N431S |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,430,479 (GRCm39) |
M235T |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,399,275 (GRCm39) |
P220S |
probably damaging |
Het |
| Gpr180 |
A |
T |
14: 118,377,175 (GRCm39) |
I59F |
possibly damaging |
Het |
| Haspin |
A |
T |
11: 73,027,526 (GRCm39) |
V521D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,945,144 (GRCm39) |
T622A |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,704,408 (GRCm39) |
T57N |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,014 (GRCm39) |
F422S |
probably damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,414 (GRCm39) |
N248Y |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,772,507 (GRCm39) |
V163A |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,592,316 (GRCm39) |
|
probably null |
Het |
| Mon2 |
T |
A |
10: 122,866,008 (GRCm39) |
|
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,488,008 (GRCm39) |
S374G |
possibly damaging |
Het |
| Nr1h3 |
T |
A |
2: 91,022,360 (GRCm39) |
K89N |
probably damaging |
Het |
| Or4c29 |
A |
T |
2: 88,740,522 (GRCm39) |
S72T |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,017,785 (GRCm39) |
D75G |
probably damaging |
Het |
| Or8b49 |
A |
G |
9: 38,505,823 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pstpip1 |
G |
T |
9: 56,021,592 (GRCm39) |
V39L |
possibly damaging |
Het |
| Sbf1 |
A |
T |
15: 89,178,150 (GRCm39) |
L1560Q |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,568 (GRCm39) |
Q114* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,697,835 (GRCm39) |
H96R |
probably damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,373 (GRCm39) |
L778P |
probably benign |
Het |
| Tas2r110 |
A |
G |
6: 132,845,443 (GRCm39) |
Q158R |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,300,524 (GRCm39) |
I92V |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,579,266 (GRCm39) |
M15549L |
possibly damaging |
Het |
| Urb2 |
T |
G |
8: 124,756,491 (GRCm39) |
S733A |
probably benign |
Het |
| Vcl |
T |
C |
14: 21,074,348 (GRCm39) |
W912R |
probably damaging |
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 |
|
IGL01732:Phldb3
|
APN |
7 |
24,326,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01765:Phldb3
|
APN |
7 |
24,316,800 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
2016-08-02 |
Incidental Mutation