Incidental Mutation 'R3810:Has1'
| ID |
275176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Has1
|
| Ensembl Gene |
ENSMUSG00000003665 |
| Gene Name |
hyaluronan synthase 1 |
| Synonyms |
|
| MMRRC Submission |
040880-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18063588-18075450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18067822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 356
(Y356C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003762]
[ENSMUST00000139969]
|
| AlphaFold |
Q61647 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003762
AA Change: Y356C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: Y356C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
179 |
387 |
1.1e-21 |
PFAM |
|
Pfam:Glyco_transf_21
|
205 |
386 |
1.2e-8 |
PFAM |
|
Pfam:Chitin_synth_2
|
222 |
394 |
1.6e-16 |
PFAM |
|
Pfam:Glyco_trans_2_3
|
237 |
453 |
5.6e-16 |
PFAM |
|
transmembrane domain
|
464 |
486 |
N/A |
INTRINSIC |
|
transmembrane domain
|
501 |
523 |
N/A |
INTRINSIC |
|
transmembrane domain
|
544 |
566 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139969
|
| SMART Domains |
Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:IG
|
151 |
186 |
1e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232410
|
| Meta Mutation Damage Score |
0.8645 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and appear grossly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
| Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,757 (GRCm39) |
E182G |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl35 |
A |
G |
7: 99,119,448 (GRCm39) |
D311G |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
| Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
| Trpc4ap |
T |
A |
2: 155,485,355 (GRCm39) |
I448F |
probably damaging |
Het |
| Ttc21b |
C |
T |
2: 66,082,577 (GRCm39) |
|
probably null |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
| Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Has1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Has1
|
APN |
17 |
18,063,924 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02551:Has1
|
APN |
17 |
18,068,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Has1
|
UTSW |
17 |
18,070,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Has1
|
UTSW |
17 |
18,064,008 (GRCm39) |
missense |
probably benign |
|
|
R0637:Has1
|
UTSW |
17 |
18,064,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1051:Has1
|
UTSW |
17 |
18,068,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Has1
|
UTSW |
17 |
18,070,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Has1
|
UTSW |
17 |
18,070,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Has1
|
UTSW |
17 |
18,070,562 (GRCm39) |
missense |
probably benign |
|
|
R2016:Has1
|
UTSW |
17 |
18,068,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Has1
|
UTSW |
17 |
18,070,298 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4467:Has1
|
UTSW |
17 |
18,064,257 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5475:Has1
|
UTSW |
17 |
18,068,583 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5682:Has1
|
UTSW |
17 |
18,064,425 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6418:Has1
|
UTSW |
17 |
18,070,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Has1
|
UTSW |
17 |
18,064,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7076:Has1
|
UTSW |
17 |
18,064,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Has1
|
UTSW |
17 |
18,070,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Has1
|
UTSW |
17 |
18,070,321 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9002:Has1
|
UTSW |
17 |
18,063,912 (GRCm39) |
missense |
unknown |
|
|
R9502:Has1
|
UTSW |
17 |
18,063,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Has1
|
UTSW |
17 |
18,070,715 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCACTTTGTTTGATGGAGAC -3'
(R):5'- GTCCATACCAGAGGCTGATG -3'
Sequencing Primer
(F):5'- AAGAGTTCATGAAAACCCTTTCC -3'
(R):5'- TACCAGAGGCTGATGCTTGGATAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation