Incidental Mutation 'IGL01765:Phldb3'
| ID |
153324 |
| 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 # |
IGL01765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24316800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 267
(D267G)
|
| 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: D267G
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: D267G
| 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: D267G
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,030,426 (GRCm39) |
M11K |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,919,104 (GRCm39) |
V442A |
unknown |
Het |
| Cdh20 |
C |
T |
1: 109,988,836 (GRCm39) |
T246I |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,854,446 (GRCm39) |
D2G |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,999 (GRCm39) |
R811C |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,766 (GRCm39) |
A1012E |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,082 (GRCm39) |
I896T |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,457,654 (GRCm39) |
Y312C |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,294,788 (GRCm39) |
F428L |
probably benign |
Het |
| Hrh4 |
G |
A |
18: 13,140,252 (GRCm39) |
R49Q |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,433,108 (GRCm39) |
T1408A |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,913 (GRCm39) |
E132G |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,851,085 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,366,522 (GRCm39) |
D452E |
probably benign |
Het |
| Ndufa7 |
G |
T |
17: 34,048,786 (GRCm39) |
E83* |
probably null |
Het |
| Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,180,510 (GRCm39) |
E272G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,006,610 (GRCm39) |
K1184R |
possibly damaging |
Het |
| Or10z1 |
T |
G |
1: 174,077,703 (GRCm39) |
K263N |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,291 (GRCm39) |
Q26L |
probably benign |
Het |
| Or1e21 |
A |
C |
11: 73,344,303 (GRCm39) |
L245R |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or7e170 |
A |
T |
9: 19,795,247 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,072 (GRCm39) |
K716R |
probably benign |
Het |
| Plcb2 |
T |
A |
2: 118,540,749 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,695,049 (GRCm39) |
I87M |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,974,170 (GRCm39) |
F219L |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,599,177 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,704,261 (GRCm39) |
D228E |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,327,178 (GRCm39) |
M1723L |
probably benign |
Het |
| Sc5d |
A |
G |
9: 42,167,464 (GRCm39) |
F128S |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,616 (GRCm39) |
S80P |
probably damaging |
Het |
| Supt16 |
C |
T |
14: 52,417,680 (GRCm39) |
R278H |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,112,985 (GRCm39) |
I986T |
probably benign |
Het |
| Trio |
A |
G |
15: 27,764,112 (GRCm39) |
V860A |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,148,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,788 (GRCm39) |
T823A |
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 |
|
IGL01732:Phldb3
|
APN |
7 |
24,326,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation