Incidental Mutation 'R8437:Phldb3'
| ID |
654041 |
| 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 |
067901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R8437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24328375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 640
(T640A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073325]
[ENSMUST00000206422]
|
| AlphaFold |
E9QAF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073325
AA Change: T640A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: T640A
| 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 damaging
Transcript: ENSMUST00000206422
AA Change: T640A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 78,998,178 (GRCm39) |
Y237H |
probably damaging |
Het |
| Adprh |
T |
C |
16: 38,266,449 (GRCm39) |
E231G |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,030,705 (GRCm39) |
S631G |
probably benign |
Het |
| Bpifa5 |
T |
A |
2: 154,007,526 (GRCm39) |
L156H |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,644,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,551,956 (GRCm39) |
G508S |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,710,822 (GRCm39) |
T794A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 95,987,899 (GRCm39) |
C497Y |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,888,602 (GRCm39) |
I168T |
possibly damaging |
Het |
| Dtna |
C |
T |
18: 23,723,398 (GRCm39) |
Q201* |
probably null |
Het |
| Fetub |
T |
C |
16: 22,752,985 (GRCm39) |
S146P |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,757,272 (GRCm39) |
E242D |
probably benign |
Het |
| Gfpt2 |
T |
A |
11: 49,695,694 (GRCm39) |
|
probably benign |
Het |
| Ginm1 |
C |
T |
10: 7,646,130 (GRCm39) |
C290Y |
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,296,006 (GRCm39) |
S386P |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hnrnpa3 |
T |
G |
2: 75,493,019 (GRCm39) |
S220A |
unknown |
Het |
| Hydin |
A |
G |
8: 111,189,367 (GRCm39) |
E1257G |
probably damaging |
Het |
| Ier3ip1 |
C |
T |
18: 77,017,874 (GRCm39) |
A18V |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,651 (GRCm39) |
C1361S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,301,351 (GRCm39) |
Q955R |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,326,277 (GRCm39) |
M1349R |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,903,602 (GRCm39) |
V316I |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,482,695 (GRCm39) |
I501T |
possibly damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,167 (GRCm39) |
S180R |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,569,220 (GRCm39) |
V1100I |
unknown |
Het |
| Nbas |
T |
C |
12: 13,616,251 (GRCm39) |
V2263A |
possibly damaging |
Het |
| Or6b2 |
C |
T |
1: 92,408,187 (GRCm39) |
S52N |
probably benign |
Het |
| Or7g33 |
C |
T |
9: 19,448,833 (GRCm39) |
R131H |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,114,109 (GRCm39) |
I130L |
possibly damaging |
Het |
| Pole2 |
G |
C |
12: 69,250,961 (GRCm39) |
Y467* |
probably null |
Het |
| Pxdn |
C |
T |
12: 30,052,043 (GRCm39) |
T740M |
probably damaging |
Het |
| Rabac1 |
T |
C |
7: 24,671,672 (GRCm39) |
I83V |
probably damaging |
Het |
| Rrp7a |
T |
C |
15: 83,001,773 (GRCm39) |
Q245R |
probably damaging |
Het |
| Sae1 |
A |
G |
7: 16,104,279 (GRCm39) |
V110A |
probably damaging |
Het |
| Sema3c |
G |
T |
5: 17,867,936 (GRCm39) |
V116F |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,231,963 (GRCm39) |
Y200C |
probably damaging |
Het |
| Slc25a45 |
C |
T |
19: 5,930,135 (GRCm39) |
T35M |
probably benign |
Het |
| Speer4b |
C |
T |
5: 27,703,818 (GRCm39) |
R107Q |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,006,651 (GRCm39) |
T843A |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,243,856 (GRCm39) |
I2004F |
probably damaging |
Het |
| Tma16 |
T |
C |
8: 66,929,448 (GRCm39) |
D182G |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,610,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,830,800 (GRCm39) |
T19A |
probably damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,753 (GRCm39) |
G80S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,798,332 (GRCm39) |
C2025R |
|
Het |
| Zyg11a |
T |
A |
4: 108,075,103 (GRCm39) |
H6L |
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 |
|
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'- AAGGGAACAGGCATTCTAGC -3'
(R):5'- AATAAATAGTTCCTTCCACCCCTG -3'
Sequencing Primer
(F):5'- GCATTCTAGCCCAGTTTAGGAAGAC -3'
(R):5'- CTCCTTTCTCAGAGGGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation