Incidental Mutation 'R5881:Phldb3'
ID |
454420 |
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 |
044085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R5881 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 24326147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073325]
[ENSMUST00000206422]
|
AlphaFold |
E9QAF4 |
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000180699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205857
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206422
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.3%
- 10x: 94.5%
- 20x: 78.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3 |
A |
C |
11: 95,725,213 (GRCm39) |
L159W |
probably damaging |
Het |
Abi3 |
A |
T |
11: 95,725,214 (GRCm39) |
L159M |
probably damaging |
Het |
Adam11 |
A |
C |
11: 102,664,636 (GRCm39) |
I406L |
probably benign |
Het |
Ager |
G |
T |
17: 34,819,051 (GRCm39) |
V300L |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,822,660 (GRCm39) |
S1726L |
probably benign |
Het |
Boc |
A |
G |
16: 44,311,014 (GRCm39) |
I740T |
probably damaging |
Het |
C8a |
T |
A |
4: 104,711,129 (GRCm39) |
D178V |
probably damaging |
Het |
Ces3a |
G |
A |
8: 105,777,198 (GRCm39) |
V174M |
probably damaging |
Het |
Cisd1 |
A |
T |
10: 71,172,244 (GRCm39) |
W13R |
probably damaging |
Het |
Commd8 |
A |
T |
5: 72,320,107 (GRCm39) |
D111E |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,490,104 (GRCm39) |
D1691V |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,065,479 (GRCm39) |
Y15C |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,864,013 (GRCm39) |
V24A |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,538,640 (GRCm39) |
T968M |
probably benign |
Het |
Dsel |
A |
T |
1: 111,787,168 (GRCm39) |
F1122L |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,910,807 (GRCm39) |
F220L |
probably damaging |
Het |
Entpd2 |
A |
C |
2: 25,290,824 (GRCm39) |
N443H |
probably damaging |
Het |
Epgn |
A |
G |
5: 91,176,222 (GRCm39) |
N36S |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,814,785 (GRCm39) |
S3506I |
possibly damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,771 (GRCm39) |
S179G |
probably benign |
Het |
Grifin |
G |
T |
5: 140,549,342 (GRCm39) |
H125N |
possibly damaging |
Het |
H1f9 |
A |
G |
11: 94,858,989 (GRCm39) |
T95A |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,506,078 (GRCm39) |
V3816A |
probably damaging |
Het |
Hspa14 |
A |
G |
2: 3,499,207 (GRCm39) |
F196L |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,754,620 (GRCm39) |
K489E |
probably benign |
Het |
Jmjd6 |
C |
T |
11: 116,730,682 (GRCm39) |
W117* |
probably null |
Het |
Lrit2 |
G |
T |
14: 36,794,192 (GRCm39) |
A419S |
probably benign |
Het |
Mc3r |
T |
C |
2: 172,091,092 (GRCm39) |
S105P |
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,018,531 (GRCm39) |
V601A |
probably benign |
Het |
Myo1f |
A |
G |
17: 33,795,627 (GRCm39) |
D91G |
probably damaging |
Het |
Myo1f |
G |
A |
17: 33,799,259 (GRCm39) |
E255K |
possibly damaging |
Het |
Necap1 |
T |
A |
6: 122,858,503 (GRCm39) |
D115E |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,096,786 (GRCm39) |
|
probably null |
Het |
Or4k15b |
G |
A |
14: 50,272,444 (GRCm39) |
R139C |
probably benign |
Het |
Or51b6 |
T |
A |
7: 103,555,883 (GRCm39) |
M79K |
probably damaging |
Het |
Papln |
A |
G |
12: 83,818,652 (GRCm39) |
E78G |
probably null |
Het |
Pkd1l2 |
A |
G |
8: 117,724,321 (GRCm39) |
I2394T |
probably damaging |
Het |
Ppa2 |
A |
T |
3: 133,036,200 (GRCm39) |
N118I |
probably damaging |
Het |
Ppef2 |
A |
T |
5: 92,398,388 (GRCm39) |
C43* |
probably null |
Het |
Pramel51 |
A |
G |
12: 88,143,111 (GRCm39) |
L169P |
probably damaging |
Het |
Rab27a |
G |
A |
9: 72,992,321 (GRCm39) |
|
probably null |
Het |
Rabgap1l |
A |
T |
1: 160,169,683 (GRCm39) |
F47I |
probably damaging |
Het |
Rala |
A |
G |
13: 18,067,746 (GRCm39) |
I95T |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,151,691 (GRCm39) |
D245G |
probably benign |
Het |
Rnf34 |
A |
T |
5: 123,002,146 (GRCm39) |
T35S |
probably damaging |
Het |
Ros1 |
C |
T |
10: 52,057,894 (GRCm39) |
R51Q |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,372,716 (GRCm39) |
D1515G |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,505,870 (GRCm39) |
E1673G |
probably benign |
Het |
Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
Tdrd5 |
A |
T |
1: 156,122,070 (GRCm39) |
S280T |
probably damaging |
Het |
Tent2 |
A |
T |
13: 93,312,246 (GRCm39) |
C180* |
probably null |
Het |
Tie1 |
T |
C |
4: 118,332,800 (GRCm39) |
I911V |
possibly damaging |
Het |
Vipas39 |
G |
A |
12: 87,298,581 (GRCm39) |
R194* |
probably null |
Het |
Ybx3 |
A |
C |
6: 131,345,451 (GRCm39) |
N307K |
possibly damaging |
Het |
Ylpm1 |
A |
T |
12: 85,088,899 (GRCm39) |
H1216L |
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 |
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'- AGGTTGCAATCCCTCTCTGC -3'
(R):5'- CATCCGAAGCCAGAACTGAG -3'
Sequencing Primer
(F):5'- TCTGTGCTCTGCAGGCC -3'
(R):5'- GCGAAACTCAACTGTGTTAGTG -3'
|
Posted On |
2017-02-10 |