Incidental Mutation 'IGL01565:Has3'
| ID |
90968 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Has3
|
| Ensembl Gene |
ENSMUSG00000031910 |
| Gene Name |
hyaluronan synthase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107596874-107609534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107601077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 180
(W180R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034385]
[ENSMUST00000175987]
[ENSMUST00000176144]
|
| AlphaFold |
O08650 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034385
AA Change: W180R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
AA Change: W180R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
85 |
361 |
4e-22 |
PFAM |
|
Pfam:Glycos_transf_2
|
183 |
300 |
4.5e-7 |
PFAM |
|
Pfam:Glyco_transf_21
|
188 |
360 |
5.7e-8 |
PFAM |
|
Pfam:Chitin_synth_2
|
198 |
451 |
7.7e-17 |
PFAM |
|
Pfam:Glyco_trans_2_3
|
211 |
538 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175987
AA Change: W180R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910
AA Change: W180R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
11 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
85 |
251 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176144
AA Change: W180R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910
AA Change: W180R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
85 |
361 |
4.5e-24 |
PFAM |
|
Pfam:Glyco_transf_21
|
189 |
360 |
7e-8 |
PFAM |
|
Pfam:Chitin_synth_2
|
197 |
457 |
3.2e-16 |
PFAM |
|
Pfam:Glyco_trans_2_3
|
211 |
537 |
5e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with normal static and dynamic compliances and display a reduced high tidal volume ventilation-induced inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Has3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Has3
|
APN |
8 |
107,605,231 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01115:Has3
|
APN |
8 |
107,605,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02341:Has3
|
APN |
8 |
107,600,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Has3
|
APN |
8 |
107,605,242 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1852:Has3
|
UTSW |
8 |
107,600,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1956:Has3
|
UTSW |
8 |
107,605,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1958:Has3
|
UTSW |
8 |
107,605,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Has3
|
UTSW |
8 |
107,600,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Has3
|
UTSW |
8 |
107,605,054 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4726:Has3
|
UTSW |
8 |
107,604,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Has3
|
UTSW |
8 |
107,600,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5526:Has3
|
UTSW |
8 |
107,600,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Has3
|
UTSW |
8 |
107,601,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9203:Has3
|
UTSW |
8 |
107,600,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Has3
|
UTSW |
8 |
107,600,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Has3
|
UTSW |
8 |
107,600,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation