Incidental Mutation 'IGL03073:Pdlim4'
| ID |
417595 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdlim4
|
| Ensembl Gene |
ENSMUSG00000020388 |
| Gene Name |
PDZ and LIM domain 4 |
| Synonyms |
Ril |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL03073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53945754-53959840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53954467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 21
(V21A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018755]
[ENSMUST00000093109]
[ENSMUST00000144477]
|
| AlphaFold |
P70271 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018755
AA Change: V80A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018755
Gene: ENSMUSG00000020388
AA Change: V80A
| 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 damaging
Transcript: ENSMUST00000093109
AA Change: V80A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090797
Gene: ENSMUSG00000020388
AA Change: V80A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
11 |
84 |
1.05e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127271
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144477
AA Change: V21A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121248
Gene: ENSMUSG00000020388
AA Change: V21A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151948
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
C |
7: 124,930,735 (GRCm39) |
|
noncoding transcript |
Het |
| Actr6 |
A |
G |
10: 89,562,556 (GRCm39) |
S108P |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,103,940 (GRCm39) |
N568K |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,703 (GRCm39) |
L408P |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,251,152 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp2b1 |
C |
T |
10: 98,835,713 (GRCm39) |
T486M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,921,941 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,278 (GRCm39) |
I502T |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,293,470 (GRCm39) |
N137K |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,864,791 (GRCm39) |
D1196E |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,717,245 (GRCm39) |
|
probably benign |
Het |
| Lypd9 |
A |
T |
11: 58,338,277 (GRCm39) |
D38E |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,050,004 (GRCm39) |
H313N |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,760,646 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
G |
A |
2: 14,310,153 (GRCm39) |
V805I |
probably damaging |
Het |
| Ncam2 |
T |
G |
16: 81,418,235 (GRCm39) |
D763E |
possibly damaging |
Het |
| Ncapg2 |
T |
G |
12: 116,415,894 (GRCm39) |
H1091Q |
probably benign |
Het |
| Or5b112 |
T |
G |
19: 13,319,386 (GRCm39) |
I88R |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,697 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,707,816 (GRCm39) |
D886V |
possibly damaging |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,195 (GRCm39) |
M940T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,304,949 (GRCm39) |
|
probably null |
Het |
| Sox1 |
T |
C |
8: 12,446,625 (GRCm39) |
W89R |
probably damaging |
Het |
| Stx12 |
T |
C |
4: 132,585,760 (GRCm39) |
M207V |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,426,435 (GRCm39) |
T1154A |
probably damaging |
Het |
| Tmcc3 |
T |
G |
10: 94,414,813 (GRCm39) |
S172A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,889,461 (GRCm39) |
I1773F |
possibly damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,170 (GRCm39) |
N720Y |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,373,002 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
A |
C |
7: 23,306,273 (GRCm39) |
Q225P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,528 (GRCm39) |
I293V |
possibly damaging |
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 |
|
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 |
|
R3037:Pdlim4
|
UTSW |
11 |
53,947,083 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation