Incidental Mutation 'IGL03493:Podnl1'
ID |
490725 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Podnl1
|
Ensembl Gene |
ENSMUSG00000012889 |
Gene Name |
podocan-like 1 |
Synonyms |
5832418A03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL03493
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84852618-84859156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84858818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 548
(V548I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040383]
[ENSMUST00000093380]
[ENSMUST00000117424]
|
AlphaFold |
Q6P3Y9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040383
|
SMART Domains |
Protein: ENSMUSP00000046449 Gene: ENSMUSG00000036686
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
DM14
|
137 |
194 |
1.02e-14 |
SMART |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
low complexity region
|
229 |
238 |
N/A |
INTRINSIC |
DM14
|
250 |
308 |
8.7e-23 |
SMART |
DM14
|
342 |
400 |
7.44e-31 |
SMART |
low complexity region
|
457 |
478 |
N/A |
INTRINSIC |
DM14
|
487 |
545 |
4.62e-27 |
SMART |
C2
|
649 |
763 |
5.08e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093380
AA Change: V548I
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000091073 Gene: ENSMUSG00000012889 AA Change: V548I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
LRRNT
|
38 |
71 |
1.91e0 |
SMART |
LRR
|
70 |
89 |
1.81e2 |
SMART |
LRR
|
90 |
115 |
1.76e-1 |
SMART |
LRR
|
116 |
139 |
1.19e2 |
SMART |
LRR
|
162 |
186 |
1.06e1 |
SMART |
LRR
|
191 |
210 |
5.42e1 |
SMART |
LRR
|
211 |
231 |
1.66e1 |
SMART |
LRR
|
233 |
257 |
3.98e1 |
SMART |
LRR_TYP
|
258 |
281 |
7.9e-4 |
SMART |
LRR
|
304 |
328 |
9.24e1 |
SMART |
LRR_TYP
|
329 |
352 |
4.72e-2 |
SMART |
LRR
|
375 |
399 |
2.61e2 |
SMART |
LRR_TYP
|
400 |
423 |
2.61e-4 |
SMART |
LRR
|
424 |
444 |
3.18e1 |
SMART |
LRR
|
445 |
470 |
3.27e1 |
SMART |
LRR_TYP
|
471 |
494 |
3.63e-3 |
SMART |
LRR
|
495 |
515 |
1.97e1 |
SMART |
LRR
|
516 |
541 |
2.03e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117424
|
SMART Domains |
Protein: ENSMUSP00000112556 Gene: ENSMUSG00000036686
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
DM14
|
205 |
263 |
8.7e-23 |
SMART |
DM14
|
297 |
355 |
7.44e-31 |
SMART |
low complexity region
|
411 |
432 |
N/A |
INTRINSIC |
DM14
|
441 |
499 |
4.62e-27 |
SMART |
C2
|
603 |
717 |
5.08e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147175
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154029
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
Other mutations in Podnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02738:Podnl1
|
APN |
8 |
84,858,824 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03151:Podnl1
|
APN |
8 |
84,858,818 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03197:Podnl1
|
APN |
8 |
84,858,818 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03198:Podnl1
|
APN |
8 |
84,858,818 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03225:Podnl1
|
APN |
8 |
84,858,818 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03290:Podnl1
|
APN |
8 |
84,858,818 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03368:Podnl1
|
APN |
8 |
84,858,818 (GRCm39) |
missense |
probably benign |
0.44 |
PIT4472001:Podnl1
|
UTSW |
8 |
84,854,477 (GRCm39) |
missense |
|
|
R1056:Podnl1
|
UTSW |
8 |
84,855,905 (GRCm39) |
missense |
probably benign |
0.00 |
R1962:Podnl1
|
UTSW |
8 |
84,853,926 (GRCm39) |
missense |
probably benign |
0.04 |
R4367:Podnl1
|
UTSW |
8 |
84,853,897 (GRCm39) |
missense |
probably benign |
0.03 |
R4412:Podnl1
|
UTSW |
8 |
84,857,294 (GRCm39) |
missense |
probably benign |
0.00 |
R4473:Podnl1
|
UTSW |
8 |
84,858,614 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4715:Podnl1
|
UTSW |
8 |
84,852,690 (GRCm39) |
start gained |
probably benign |
|
R5009:Podnl1
|
UTSW |
8 |
84,852,887 (GRCm39) |
missense |
probably benign |
0.01 |
R5013:Podnl1
|
UTSW |
8 |
84,852,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R5153:Podnl1
|
UTSW |
8 |
84,857,272 (GRCm39) |
missense |
probably benign |
0.00 |
R7596:Podnl1
|
UTSW |
8 |
84,853,024 (GRCm39) |
missense |
|
|
R8289:Podnl1
|
UTSW |
8 |
84,858,552 (GRCm39) |
missense |
|
|
R8343:Podnl1
|
UTSW |
8 |
84,857,402 (GRCm39) |
missense |
|
|
R8715:Podnl1
|
UTSW |
8 |
84,855,956 (GRCm39) |
missense |
|
|
|
Posted On |
2017-10-20 |