Incidental Mutation 'IGL01341:Pdlim3'
| ID |
74858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdlim3
|
| Ensembl Gene |
ENSMUSG00000031636 |
| Gene Name |
PDZ and LIM domain 3 |
| Synonyms |
ALP |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL01341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46338498-46372585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46368277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 258
(D258E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034053]
[ENSMUST00000210422]
|
| AlphaFold |
O70209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034053
AA Change: D210E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: D210E
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
11 |
84 |
3.86e-16 |
SMART |
|
ZM
|
137 |
162 |
5.55e-11 |
SMART |
|
LIM
|
245 |
296 |
3.73e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210422
AA Change: D258E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
| Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
probably benign |
Het |
|
| Other mutations in Pdlim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Pdlim3
|
APN |
8 |
46,349,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02189:Pdlim3
|
APN |
8 |
46,338,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02834:Pdlim3
|
APN |
8 |
46,370,569 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03165:Pdlim3
|
APN |
8 |
46,372,035 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
C9142:Pdlim3
|
UTSW |
8 |
46,349,869 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0244:Pdlim3
|
UTSW |
8 |
46,361,497 (GRCm39) |
intron |
probably benign |
|
|
R0369:Pdlim3
|
UTSW |
8 |
46,370,543 (GRCm39) |
missense |
probably benign |
|
|
R1052:Pdlim3
|
UTSW |
8 |
46,349,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1142:Pdlim3
|
UTSW |
8 |
46,371,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Pdlim3
|
UTSW |
8 |
46,349,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Pdlim3
|
UTSW |
8 |
46,349,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Pdlim3
|
UTSW |
8 |
46,349,785 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5641:Pdlim3
|
UTSW |
8 |
46,368,300 (GRCm39) |
splice site |
probably null |
|
|
R5731:Pdlim3
|
UTSW |
8 |
46,368,284 (GRCm39) |
missense |
probably benign |
|
|
R6501:Pdlim3
|
UTSW |
8 |
46,361,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7111:Pdlim3
|
UTSW |
8 |
46,370,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7637:Pdlim3
|
UTSW |
8 |
46,362,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Pdlim3
|
UTSW |
8 |
46,361,576 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8223:Pdlim3
|
UTSW |
8 |
46,353,562 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8380:Pdlim3
|
UTSW |
8 |
46,370,572 (GRCm39) |
missense |
probably benign |
|
|
R9163:Pdlim3
|
UTSW |
8 |
46,338,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9673:Pdlim3
|
UTSW |
8 |
46,368,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1177:Pdlim3
|
UTSW |
8 |
46,372,021 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pdlim3
|
UTSW |
8 |
46,362,117 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Pdlim3
|
UTSW |
8 |
46,362,116 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2013-10-07 |
Incidental Mutation