Incidental Mutation 'R3037:Pdlim4'
| ID |
264860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim4
|
| Ensembl Gene |
ENSMUSG00000020388 |
| Gene Name |
PDZ and LIM domain 4 |
| Synonyms |
Ril |
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R3037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53945754-53959840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53947083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 72
(G72V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018755]
[ENSMUST00000093109]
[ENSMUST00000144477]
|
| AlphaFold |
P70271 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018755
AA Change: G131V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018755
Gene: ENSMUSG00000020388
AA Change: G131V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
11 |
84 |
1.05e-17 |
SMART |
|
Pfam:DUF4749
|
142 |
230 |
7.2e-14 |
PFAM |
|
LIM
|
254 |
305 |
9.75e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093109
AA Change: G131V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090797
Gene: ENSMUSG00000020388
AA Change: G131V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
11 |
84 |
1.05e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144477
AA Change: G72V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121248
Gene: ENSMUSG00000020388
AA Change: G72V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
1 |
25 |
2e-10 |
BLAST |
|
SCOP:d1qava_
|
1 |
25 |
3e-4 |
SMART |
|
PDB:2V1W|B
|
1 |
28 |
2e-11 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
Het |
|
| Other mutations in Pdlim4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:Pdlim4
|
APN |
11 |
53,947,130 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02005:Pdlim4
|
APN |
11 |
53,950,810 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02305:Pdlim4
|
APN |
11 |
53,946,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Pdlim4
|
APN |
11 |
53,954,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB001:Pdlim4
|
UTSW |
11 |
53,946,048 (GRCm39) |
nonsense |
probably null |
|
|
BB011:Pdlim4
|
UTSW |
11 |
53,946,048 (GRCm39) |
nonsense |
probably null |
|
|
R0008:Pdlim4
|
UTSW |
11 |
53,945,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Pdlim4
|
UTSW |
11 |
53,959,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Pdlim4
|
UTSW |
11 |
53,947,080 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1754:Pdlim4
|
UTSW |
11 |
53,946,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2132:Pdlim4
|
UTSW |
11 |
53,954,563 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4210:Pdlim4
|
UTSW |
11 |
53,946,744 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5787:Pdlim4
|
UTSW |
11 |
53,946,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Pdlim4
|
UTSW |
11 |
53,954,482 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6862:Pdlim4
|
UTSW |
11 |
53,946,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Pdlim4
|
UTSW |
11 |
53,946,048 (GRCm39) |
nonsense |
probably null |
|
|
R8927:Pdlim4
|
UTSW |
11 |
53,950,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8928:Pdlim4
|
UTSW |
11 |
53,950,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9023:Pdlim4
|
UTSW |
11 |
53,959,662 (GRCm39) |
unclassified |
probably benign |
|
|
R9026:Pdlim4
|
UTSW |
11 |
53,946,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGATCAAACGACAAGGGCC -3'
(R):5'- CAACCATGGACCCTTTTGC -3'
Sequencing Primer
(F):5'- CCAGGAAGGAACTGTAGAGATTTG -3'
(R):5'- ACCCTTTTGCCGGCTGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation