Incidental Mutation 'IGL01017:Phldb3'
| ID |
53679 |
| 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 # |
IGL01017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24310188-24328722 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24328295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 613
(C613F)
|
| 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: C613F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: C613F
| 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: C613F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,607,218 (GRCm39) |
A29T |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,467 (GRCm39) |
K795R |
probably damaging |
Het |
| Atg3 |
T |
C |
16: 45,004,174 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,078,739 (GRCm39) |
V200A |
possibly damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,564 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,715,988 (GRCm39) |
I93F |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,171,287 (GRCm39) |
L372S |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,888,853 (GRCm39) |
I240T |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,510,186 (GRCm39) |
A728V |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,128,390 (GRCm39) |
D529G |
possibly damaging |
Het |
| Flnb |
G |
T |
14: 7,917,390 (GRCm38) |
|
probably benign |
Het |
| Gm14401 |
A |
T |
2: 176,778,625 (GRCm39) |
H237L |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,443 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Igkv12-98 |
T |
A |
6: 68,548,093 (GRCm39) |
L74* |
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,508 (GRCm39) |
D14E |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,946,335 (GRCm39) |
S917P |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,574,200 (GRCm39) |
|
probably null |
Het |
| Lamb1 |
A |
G |
12: 31,351,063 (GRCm39) |
D723G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,364,500 (GRCm39) |
R130S |
probably benign |
Het |
| Mcm3 |
A |
C |
1: 20,875,039 (GRCm39) |
|
probably null |
Het |
| Muc19 |
T |
G |
15: 91,764,901 (GRCm39) |
|
noncoding transcript |
Het |
| Necap2 |
A |
G |
4: 140,794,879 (GRCm39) |
F266S |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,055 (GRCm39) |
G283D |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,092 (GRCm39) |
K526N |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,389 (GRCm39) |
T166A |
probably benign |
Het |
| Or4p7 |
T |
A |
2: 88,222,245 (GRCm39) |
V218E |
possibly damaging |
Het |
| Pelp1 |
G |
A |
11: 70,287,720 (GRCm39) |
R401W |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,243,110 (GRCm39) |
Y93H |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,476 (GRCm39) |
E105G |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,194 (GRCm39) |
Q480K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,781,968 (GRCm39) |
I2007N |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 33,721,228 (GRCm39) |
T39A |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,187 (GRCm39) |
D359G |
probably benign |
Het |
| Sgo2b |
G |
T |
8: 64,379,557 (GRCm39) |
R1092S |
probably benign |
Het |
| Sh3pxd2b |
C |
A |
11: 32,353,993 (GRCm39) |
S187* |
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,418,955 (GRCm39) |
L92H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,758 (GRCm39) |
V585A |
probably damaging |
Het |
| Sp6 |
A |
G |
11: 96,913,429 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,894,871 (GRCm39) |
I307F |
possibly damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,359 (GRCm39) |
H33L |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,912,782 (GRCm39) |
D1642E |
probably damaging |
Het |
| Ttc1 |
T |
C |
11: 43,621,320 (GRCm39) |
N287S |
probably damaging |
Het |
| Ttc9 |
G |
A |
12: 81,678,536 (GRCm39) |
V120I |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,787,272 (GRCm39) |
V27A |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,551,334 (GRCm39) |
M48I |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,309 (GRCm39) |
C267S |
possibly damaging |
Het |
| Wee1 |
A |
T |
7: 109,725,055 (GRCm39) |
D275V |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 126,982,152 (GRCm39) |
P63L |
probably benign |
Het |
|
| Other mutations in Phldb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation