Incidental Mutation 'R3791:Hpse'
| ID |
272527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpse
|
| Ensembl Gene |
ENSMUSG00000035273 |
| Gene Name |
heparanase |
| Synonyms |
Hpa |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3791 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100827350-100867582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100840104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 338
(S338P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045617]
[ENSMUST00000112908]
|
| AlphaFold |
Q6YGZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045617
AA Change: S338P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: S338P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_79n
|
132 |
362 |
1.8e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112908
AA Change: S338P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: S338P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_79n
|
144 |
362 |
1.2e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an endoglucuronidase enzyme that plays an important role in tumor invasion and metastasis. The encoded preproprotein undergoes proteolytic processing to generate an active heterodimeric enzyme that cleaves the heparan sulfate proteoglycans associated with the cell surface and extracellular matrix. Mice lacking the encoded protein do not show any prominent pathological alterations under normal conditions but fail to develop albuminuria and renal damage in response to drug-induced diabetes. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
possibly damaging |
Het |
|
| Other mutations in Hpse |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Hpse
|
APN |
5 |
100,839,196 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00743:Hpse
|
APN |
5 |
100,846,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02377:Hpse
|
APN |
5 |
100,839,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Hpse
|
UTSW |
5 |
100,840,128 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0194:Hpse
|
UTSW |
5 |
100,867,378 (GRCm39) |
missense |
probably benign |
|
|
R1974:Hpse
|
UTSW |
5 |
100,840,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Hpse
|
UTSW |
5 |
100,846,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Hpse
|
UTSW |
5 |
100,839,269 (GRCm39) |
nonsense |
probably null |
|
|
R2405:Hpse
|
UTSW |
5 |
100,856,637 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5127:Hpse
|
UTSW |
5 |
100,867,403 (GRCm39) |
missense |
unknown |
|
|
R5147:Hpse
|
UTSW |
5 |
100,867,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Hpse
|
UTSW |
5 |
100,856,590 (GRCm39) |
nonsense |
probably null |
|
|
R6446:Hpse
|
UTSW |
5 |
100,843,435 (GRCm39) |
nonsense |
probably null |
|
|
R7009:Hpse
|
UTSW |
5 |
100,840,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7186:Hpse
|
UTSW |
5 |
100,843,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Hpse
|
UTSW |
5 |
100,839,257 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7964:Hpse
|
UTSW |
5 |
100,846,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8064:Hpse
|
UTSW |
5 |
100,836,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8183:Hpse
|
UTSW |
5 |
100,832,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Hpse
|
UTSW |
5 |
100,846,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Hpse
|
UTSW |
5 |
100,843,452 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8845:Hpse
|
UTSW |
5 |
100,859,248 (GRCm39) |
missense |
probably benign |
|
|
R8932:Hpse
|
UTSW |
5 |
100,846,872 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8998:Hpse
|
UTSW |
5 |
100,840,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Hpse
|
UTSW |
5 |
100,842,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Hpse
|
UTSW |
5 |
100,839,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACAGTTTTAGGGCTCTCC -3'
(R):5'- TAATGGCCTATCAGTGGAGTTAAC -3'
Sequencing Primer
(F):5'- CCCTCGGAGACTGTACTTGATG -3'
(R):5'- TCCTTCTAGTAGGCCCATAAAAGAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation