Incidental Mutation 'IGL01576:Podxl'
| ID |
91268 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Podxl
|
| Ensembl Gene |
ENSMUSG00000025608 |
| Gene Name |
podocalyxin-like |
| Synonyms |
podocalyxin, PC, Pclp1, Podxl1, Ly102 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
31496428-31540872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31501319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 412
(V412D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026698]
|
| AlphaFold |
Q9R0M4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026698
AA Change: V412D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: V412D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
Pfam:CD34_antigen
|
301 |
503 |
6e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136877
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and severe kidney defects including absence of the podocyte slit diaphragm and foot processes and anuria. While a subset display edema and/or omphalocele, most mice appear normal at birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
possibly damaging |
Het |
|
| Other mutations in Podxl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Podxl
|
APN |
6 |
31,505,639 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02151:Podxl
|
APN |
6 |
31,501,394 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02240:Podxl
|
APN |
6 |
31,501,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02487:Podxl
|
APN |
6 |
31,499,957 (GRCm39) |
makesense |
probably null |
|
|
IGL02598:Podxl
|
APN |
6 |
31,501,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Podxl
|
APN |
6 |
31,505,384 (GRCm39) |
splice site |
probably benign |
|
|
R2042:Podxl
|
UTSW |
6 |
31,500,051 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3840:Podxl
|
UTSW |
6 |
31,500,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Podxl
|
UTSW |
6 |
31,503,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5509:Podxl
|
UTSW |
6 |
31,503,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5754:Podxl
|
UTSW |
6 |
31,501,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Podxl
|
UTSW |
6 |
31,505,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6242:Podxl
|
UTSW |
6 |
31,503,180 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6376:Podxl
|
UTSW |
6 |
31,505,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6493:Podxl
|
UTSW |
6 |
31,501,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Podxl
|
UTSW |
6 |
31,501,668 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7299:Podxl
|
UTSW |
6 |
31,501,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Podxl
|
UTSW |
6 |
31,501,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Podxl
|
UTSW |
6 |
31,505,941 (GRCm39) |
missense |
unknown |
|
|
R7358:Podxl
|
UTSW |
6 |
31,501,929 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8799:Podxl
|
UTSW |
6 |
31,501,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Podxl
|
UTSW |
6 |
31,505,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Podxl
|
UTSW |
6 |
31,505,459 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2013-12-09 |
Incidental Mutation