Incidental Mutation 'R6390:Habp2'
| ID |
515746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Habp2
|
| Ensembl Gene |
ENSMUSG00000025075 |
| Gene Name |
hyaluronic acid binding protein 2 |
| Synonyms |
FSAP |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56275569-56309254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 56295255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 49
(E49Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078284]
[ENSMUST00000095948]
[ENSMUST00000163502]
[ENSMUST00000166049]
[ENSMUST00000171341]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078284
AA Change: E49Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: E49Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
EGF
|
70 |
103 |
4.66e-6 |
SMART |
|
EGF
|
108 |
142 |
3.97e0 |
SMART |
|
EGF
|
147 |
182 |
2.26e-4 |
SMART |
|
KR
|
186 |
272 |
2.72e-39 |
SMART |
|
Tryp_SPc
|
307 |
544 |
1.47e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095948
|
| SMART Domains |
Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
33 |
66 |
4.66e-6 |
SMART |
|
EGF
|
71 |
105 |
3.97e0 |
SMART |
|
EGF
|
110 |
145 |
2.26e-4 |
SMART |
|
KR
|
149 |
235 |
2.72e-39 |
SMART |
|
Tryp_SPc
|
270 |
507 |
1.47e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163502
|
| SMART Domains |
Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075
| Domain | Start | End | E-Value | Type |
|---|
|
KR
|
1 |
41 |
5.87e-6 |
SMART |
|
Tryp_SPc
|
76 |
220 |
5.6e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165407
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166049
AA Change: E49Q
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: E49Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
EGF
|
70 |
103 |
4.66e-6 |
SMART |
|
EGF
|
108 |
142 |
3.97e0 |
SMART |
|
EGF
|
147 |
182 |
2.26e-4 |
SMART |
|
KR
|
186 |
272 |
2.72e-39 |
SMART |
|
Tryp_SPc
|
302 |
539 |
1.47e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171341
AA Change: E49Q
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075
AA Change: E49Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
EGF
|
70 |
103 |
4.66e-6 |
SMART |
|
EGF
|
108 |
142 |
3.97e0 |
SMART |
|
EGF
|
147 |
182 |
2.26e-4 |
SMART |
|
KR
|
186 |
272 |
2.72e-39 |
SMART |
|
| Meta Mutation Damage Score |
0.0764 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
| Other mutations in Habp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Habp2
|
APN |
19 |
56,306,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01113:Habp2
|
APN |
19 |
56,298,548 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01737:Habp2
|
APN |
19 |
56,304,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02174:Habp2
|
APN |
19 |
56,300,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02250:Habp2
|
APN |
19 |
56,297,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02706:Habp2
|
APN |
19 |
56,298,570 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02953:Habp2
|
APN |
19 |
56,302,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02986:Habp2
|
APN |
19 |
56,299,624 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03010:Habp2
|
APN |
19 |
56,299,655 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0415:Habp2
|
UTSW |
19 |
56,306,149 (GRCm39) |
unclassified |
probably benign |
|
|
R0483:Habp2
|
UTSW |
19 |
56,304,864 (GRCm39) |
unclassified |
probably benign |
|
|
R0627:Habp2
|
UTSW |
19 |
56,302,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1188:Habp2
|
UTSW |
19 |
56,300,154 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1880:Habp2
|
UTSW |
19 |
56,306,260 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2214:Habp2
|
UTSW |
19 |
56,306,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2473:Habp2
|
UTSW |
19 |
56,276,464 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2869:Habp2
|
UTSW |
19 |
56,276,423 (GRCm39) |
unclassified |
probably benign |
|
|
R2871:Habp2
|
UTSW |
19 |
56,276,423 (GRCm39) |
unclassified |
probably benign |
|
|
R3917:Habp2
|
UTSW |
19 |
56,299,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3969:Habp2
|
UTSW |
19 |
56,300,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4014:Habp2
|
UTSW |
19 |
56,308,054 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4853:Habp2
|
UTSW |
19 |
56,299,623 (GRCm39) |
splice site |
probably null |
|
|
R5835:Habp2
|
UTSW |
19 |
56,295,218 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6270:Habp2
|
UTSW |
19 |
56,295,295 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7110:Habp2
|
UTSW |
19 |
56,299,596 (GRCm39) |
nonsense |
probably null |
|
|
R7268:Habp2
|
UTSW |
19 |
56,302,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Habp2
|
UTSW |
19 |
56,307,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Habp2
|
UTSW |
19 |
56,300,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8021:Habp2
|
UTSW |
19 |
56,302,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8354:Habp2
|
UTSW |
19 |
56,301,388 (GRCm39) |
nonsense |
probably null |
|
|
R8383:Habp2
|
UTSW |
19 |
56,304,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8813:Habp2
|
UTSW |
19 |
56,295,216 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9140:Habp2
|
UTSW |
19 |
56,307,934 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9367:Habp2
|
UTSW |
19 |
56,304,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Habp2
|
UTSW |
19 |
56,295,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Habp2
|
UTSW |
19 |
56,306,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Habp2
|
UTSW |
19 |
56,307,985 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCAGTAATGCTTTGGAGG -3'
(R):5'- GGAGCTCTTCAATACTCATTTCACC -3'
Sequencing Primer
(F):5'- GCTTTGGAGGACCATAATATCTCC -3'
(R):5'- TTTCACCATGCAGGCCAGAGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation