Incidental Mutation 'IGL03165:Pdlim3'
ID |
411586 |
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 # |
IGL03165
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
46338498-46372585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46372035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 360
(L360Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034053]
[ENSMUST00000210422]
|
AlphaFold |
O70209 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034053
AA Change: L312Q
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000034053 Gene: ENSMUSG00000031636 AA Change: L312Q
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 |
possibly damaging
Transcript: ENSMUST00000210422
AA Change: L360Q
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210432
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
probably damaging |
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 |
IGL01341:Pdlim3
|
APN |
8 |
46,368,277 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2016-08-02 |