Incidental Mutation 'R9137:Phldb3'
ID |
694084 |
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 |
068932-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R9137 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to T
at 24310723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073325]
[ENSMUST00000077191]
[ENSMUST00000206422]
|
AlphaFold |
E9QAF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073325
|
SMART Domains |
Protein: ENSMUSP00000073047 Gene: ENSMUSG00000074277
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 |
probably benign
Transcript: ENSMUST00000077191
|
SMART Domains |
Protein: ENSMUSP00000076433 Gene: ENSMUSG00000064254
Domain | Start | End | E-Value | Type |
Lactamase_B
|
34 |
195 |
1.05e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206422
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,685,312 (GRCm39) |
K299R |
probably benign |
Het |
Abca12 |
T |
G |
1: 71,298,525 (GRCm39) |
I2366L |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,688,133 (GRCm39) |
V1749A |
probably damaging |
Het |
Ano9 |
C |
T |
7: 140,684,028 (GRCm39) |
V546M |
probably damaging |
Het |
Atad5 |
A |
T |
11: 79,986,481 (GRCm39) |
S523C |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 135,996,744 (GRCm39) |
D115V |
possibly damaging |
Het |
Ccdc18 |
T |
G |
5: 108,296,856 (GRCm39) |
C220G |
probably damaging |
Het |
Cfap61 |
A |
C |
2: 146,042,685 (GRCm39) |
K1153Q |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,601,203 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
A |
G |
3: 113,855,172 (GRCm39) |
K144R |
unknown |
Het |
Cr2 |
A |
G |
1: 194,850,640 (GRCm39) |
|
probably null |
Het |
Cyp3a16 |
A |
C |
5: 145,406,413 (GRCm39) |
V13G |
unknown |
Het |
E330034G19Rik |
A |
G |
14: 24,346,109 (GRCm39) |
N72D |
unknown |
Het |
Enah |
A |
G |
1: 181,739,160 (GRCm39) |
|
probably null |
Het |
Fezf1 |
T |
A |
6: 23,246,511 (GRCm39) |
|
probably benign |
Het |
Gabrr2 |
T |
A |
4: 33,095,571 (GRCm39) |
S487T |
probably benign |
Het |
Gas2l2 |
G |
A |
11: 83,315,894 (GRCm39) |
T275M |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,496,238 (GRCm39) |
K3877E |
possibly damaging |
Het |
Hhla1 |
G |
T |
15: 65,795,761 (GRCm39) |
Q482K |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,004,712 (GRCm39) |
T437A |
probably benign |
Het |
Iars1 |
C |
T |
13: 49,855,350 (GRCm39) |
T259M |
probably benign |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Itpk1 |
T |
C |
12: 102,540,291 (GRCm39) |
E264G |
probably benign |
Het |
Katnb1 |
G |
A |
8: 95,824,320 (GRCm39) |
M501I |
possibly damaging |
Het |
Kcna10 |
G |
A |
3: 107,102,497 (GRCm39) |
G376E |
probably damaging |
Het |
Kif23 |
A |
T |
9: 61,834,713 (GRCm39) |
F397I |
probably damaging |
Het |
Klf14 |
A |
T |
6: 30,934,855 (GRCm39) |
C260S |
probably damaging |
Het |
Lgi2 |
T |
A |
5: 52,695,361 (GRCm39) |
S533C |
probably damaging |
Het |
Marveld1 |
A |
G |
19: 42,136,440 (GRCm39) |
D118G |
probably benign |
Het |
Msln |
C |
T |
17: 25,969,084 (GRCm39) |
A434T |
probably benign |
Het |
Neb |
T |
C |
2: 52,150,502 (GRCm39) |
|
probably benign |
Het |
Nes |
G |
T |
3: 87,878,651 (GRCm39) |
G48W |
probably damaging |
Het |
Or5k3 |
T |
A |
16: 58,969,635 (GRCm39) |
C141S |
probably benign |
Het |
Osmr |
T |
A |
15: 6,856,709 (GRCm39) |
E479D |
probably benign |
Het |
Otop3 |
A |
G |
11: 115,235,868 (GRCm39) |
H500R |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Ppp4r3a |
T |
A |
12: 101,021,794 (GRCm39) |
I369F |
possibly damaging |
Het |
Rarres1 |
T |
A |
3: 67,422,801 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
G |
11: 106,214,736 (GRCm39) |
V1287A |
probably damaging |
Het |
Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,072,647 (GRCm39) |
C498* |
probably null |
Het |
Smtn |
T |
G |
11: 3,472,838 (GRCm39) |
K278T |
possibly damaging |
Het |
Sp140 |
T |
C |
1: 85,570,297 (GRCm39) |
S405P |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,724,715 (GRCm39) |
I155N |
probably benign |
Het |
Spem1 |
A |
G |
11: 69,712,433 (GRCm39) |
V77A |
probably benign |
Het |
St8sia2 |
T |
G |
7: 73,610,654 (GRCm39) |
I210L |
probably benign |
Het |
Stkld1 |
T |
C |
2: 26,840,572 (GRCm39) |
I418T |
probably benign |
Het |
Tpcn1 |
A |
G |
5: 120,695,990 (GRCm39) |
F88L |
probably damaging |
Het |
Trim66 |
C |
T |
7: 109,074,330 (GRCm39) |
V644M |
probably damaging |
Het |
Ttc41 |
T |
C |
10: 86,612,486 (GRCm39) |
I1253T |
probably benign |
Het |
Vmn2r86 |
T |
C |
10: 130,282,409 (GRCm39) |
N736D |
probably damaging |
Het |
Zfat |
T |
A |
15: 68,051,794 (GRCm39) |
T667S |
probably benign |
Het |
Zfp874a |
T |
C |
13: 67,590,841 (GRCm39) |
E281G |
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 |
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 |
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'- AGGACCCCGGACTCAAATTC -3'
(R):5'- ACAGGGTGTTTCTGCCTGTC -3'
Sequencing Primer
(F):5'- GGACCCCGGACTCAAATTCTCTTC -3'
(R):5'- AACTTGGAAGCTCCGCTG -3'
|
Posted On |
2022-01-20 |