Incidental Mutation 'R4249:Phldb3'
| ID |
320531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phldb3
|
| Ensembl Gene |
ENSMUSG00000074277 |
| Gene Name |
pleckstrin homology like domain, family B, member 3 |
| Synonyms |
Gm10102, EG232970 |
| MMRRC Submission |
041065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R4249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24326745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 591
(I591T)
|
| 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: I591T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: I591T
| 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: I591T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ankrd39 |
A |
G |
1: 36,586,236 (GRCm39) |
S11P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,338,978 (GRCm39) |
S324G |
probably benign |
Het |
| Atl3 |
T |
C |
19: 7,509,703 (GRCm39) |
V477A |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,447,525 (GRCm39) |
T151A |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,365,296 (GRCm39) |
T718A |
possibly damaging |
Het |
| Col9a1 |
C |
T |
1: 24,283,462 (GRCm39) |
R843C |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,430,341 (GRCm39) |
D316E |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,175,127 (GRCm39) |
V1862A |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,472 (GRCm39) |
N233K |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,738,831 (GRCm39) |
F75L |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gimd1 |
T |
C |
3: 132,350,169 (GRCm39) |
V144A |
possibly damaging |
Het |
| Glt1d1 |
T |
C |
5: 127,768,176 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,812,637 (GRCm39) |
D459N |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,576,200 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,399,135 (GRCm39) |
V999E |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,376 (GRCm39) |
L460P |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,715 (GRCm39) |
M206T |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,552 (GRCm39) |
N213K |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,765 (GRCm39) |
E860G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,959 (GRCm39) |
T793A |
probably benign |
Het |
| Ropn1 |
C |
T |
16: 34,498,826 (GRCm39) |
Q205* |
probably null |
Het |
| Sacs |
A |
C |
14: 61,440,906 (GRCm39) |
K984T |
probably benign |
Het |
| Samd11 |
G |
A |
4: 156,334,943 (GRCm39) |
R102C |
probably damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,969,160 (GRCm39) |
H352N |
unknown |
Het |
| Slc22a27 |
A |
T |
19: 7,903,244 (GRCm39) |
I162K |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,536,104 (GRCm39) |
V2027E |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,326,994 (GRCm39) |
I594M |
probably benign |
Het |
| Trim5 |
C |
G |
7: 103,926,022 (GRCm39) |
E180Q |
possibly damaging |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
T |
2: 174,297,526 (GRCm39) |
E45V |
probably null |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,722 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,000 (GRCm39) |
F183L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTCTCACATCTAGCATAGACAT -3'
(R):5'- AGTTATGGTCCGGTGCTGGA -3'
Sequencing Primer
(F):5'- CCAGCCTTGGGGTTATCACATTG -3'
(R):5'- CTGGACGGTGAGTATAGTCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation