Incidental Mutation 'R6945:Hyal1'
| ID |
540845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyal1
|
| Ensembl Gene |
ENSMUSG00000010051 |
| Gene Name |
hyaluronoglucosaminidase 1 |
| Synonyms |
Hyal-1 |
| MMRRC Submission |
045059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107454149-107458898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107456369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 102
(A102E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010195]
[ENSMUST00000040059]
[ENSMUST00000093785]
[ENSMUST00000112387]
[ENSMUST00000122985]
[ENSMUST00000123005]
[ENSMUST00000127380]
[ENSMUST00000130053]
[ENSMUST00000139274]
[ENSMUST00000139581]
[ENSMUST00000144392]
[ENSMUST00000148440]
[ENSMUST00000149638]
|
| AlphaFold |
Q91ZJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010195
AA Change: A382E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051
AA Change: A382E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
53 |
383 |
5.7e-134 |
PFAM |
|
EGF
|
385 |
458 |
1.4e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040059
|
| SMART Domains |
Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
25 |
354 |
4.8e-122 |
PFAM |
|
EGF
|
356 |
408 |
2.9e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093785
|
| SMART Domains |
Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
41 |
4.95e-7 |
PROSPERO |
|
internal_repeat_1
|
40 |
99 |
4.95e-7 |
PROSPERO |
|
Pfam:Acetyltransf_1
|
144 |
217 |
2.1e-12 |
PFAM |
|
Pfam:Acetyltransf_7
|
147 |
218 |
9.5e-9 |
PFAM |
|
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112387
AA Change: A382E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051
AA Change: A382E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
50 |
384 |
7e-153 |
PFAM |
|
Blast:EGF
|
385 |
454 |
1e-42 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122985
|
| SMART Domains |
Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
41 |
2.46e-5 |
PROSPERO |
|
internal_repeat_1
|
40 |
99 |
2.46e-5 |
PROSPERO |
|
Pfam:Acetyltransf_1
|
144 |
204 |
3.3e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123005
AA Change: A102E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051
AA Change: A102E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
1 |
104 |
6.8e-37 |
PFAM |
|
EGF
|
105 |
178 |
1.4e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127380
|
| SMART Domains |
Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
41 |
2.46e-5 |
PROSPERO |
|
internal_repeat_1
|
40 |
99 |
2.46e-5 |
PROSPERO |
|
Pfam:Acetyltransf_1
|
144 |
204 |
3.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130053
|
| SMART Domains |
Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
41 |
2.46e-5 |
PROSPERO |
|
internal_repeat_1
|
40 |
99 |
2.46e-5 |
PROSPERO |
|
Pfam:Acetyltransf_1
|
144 |
204 |
3.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139274
|
| SMART Domains |
Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_1
|
45 |
105 |
7.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139581
|
| SMART Domains |
Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
41 |
2.46e-5 |
PROSPERO |
|
internal_repeat_1
|
40 |
99 |
2.46e-5 |
PROSPERO |
|
Pfam:Acetyltransf_1
|
144 |
204 |
3.3e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144392
AA Change: A352E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051
AA Change: A352E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
50 |
330 |
1.8e-128 |
PFAM |
|
Pfam:Glyco_hydro_56
|
325 |
354 |
2.6e-8 |
PFAM |
|
EGF
|
355 |
428 |
1.4e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148440
|
| SMART Domains |
Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
21 |
355 |
2.6e-127 |
PFAM |
|
EGF
|
356 |
408 |
2.9e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149638
|
| SMART Domains |
Protein: ENSMUSP00000139004
Gene: ENSMUSG00000079334
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_1
|
45 |
105 |
7.4e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display a progressive osteoarthritis associated with bony outgrowths, early loss of articular cartilage proteoglycans and accumulation of hyaluronan (HA) in the cartilage of knee joints, but show no signs of non-skeletal tissue GAG accumulation or increased serum HA levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
A |
16: 20,218,759 (GRCm39) |
T208S |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,926,380 (GRCm39) |
E112G |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,421,873 (GRCm39) |
N881S |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,717,844 (GRCm39) |
E314G |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,727,399 (GRCm39) |
E443G |
probably benign |
Het |
| Akp3 |
A |
G |
1: 87,053,353 (GRCm39) |
Y102C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,886,526 (GRCm39) |
N618S |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,815,078 (GRCm39) |
V296A |
probably benign |
Het |
| Cacna2d3 |
G |
A |
14: 28,691,275 (GRCm39) |
|
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,364,966 (GRCm39) |
N99S |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,065,348 (GRCm39) |
Y283C |
probably damaging |
Het |
| Celf4 |
T |
A |
18: 25,629,293 (GRCm39) |
Q411L |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,647,755 (GRCm39) |
H108Q |
probably damaging |
Het |
| Col23a1 |
A |
G |
11: 51,452,720 (GRCm39) |
E225G |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,024,045 (GRCm39) |
E1902G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,229,571 (GRCm39) |
D2063G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,823,184 (GRCm39) |
I6306L |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,838 (GRCm39) |
S667P |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,139 (GRCm39) |
S92R |
probably benign |
Het |
| Gm11563 |
C |
G |
11: 99,549,298 (GRCm39) |
C152S |
unknown |
Het |
| Gm3486 |
A |
G |
14: 41,206,518 (GRCm39) |
V185A |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Invs |
T |
C |
4: 48,421,785 (GRCm39) |
C806R |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,933 (GRCm39) |
V165A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,120,861 (GRCm39) |
T2666A |
|
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,146,239 (GRCm39) |
Y351C |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,464,152 (GRCm39) |
F551S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,788,386 (GRCm39) |
T333A |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,799,947 (GRCm39) |
N387I |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,874,204 (GRCm39) |
D543G |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,970,405 (GRCm39) |
I273T |
possibly damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,428 (GRCm39) |
S217P |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,942,859 (GRCm39) |
V427A |
probably benign |
Het |
| Pfas |
G |
A |
11: 68,891,356 (GRCm39) |
A247V |
probably benign |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,490 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Psat1 |
T |
A |
19: 15,894,545 (GRCm39) |
T115S |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,787,437 (GRCm39) |
D1077E |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,509,752 (GRCm39) |
S442P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,822,976 (GRCm39) |
M280T |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,331,256 (GRCm39) |
E394D |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,922,460 (GRCm39) |
V271A |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,315 (GRCm39) |
N919K |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,896,449 (GRCm39) |
S245P |
possibly damaging |
Het |
| Slc22a15 |
T |
C |
3: 101,831,430 (GRCm39) |
E2G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,036,891 (GRCm39) |
D1134G |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,815 (GRCm39) |
V378A |
probably damaging |
Het |
| Tchp |
A |
G |
5: 114,847,411 (GRCm39) |
K77E |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,032,956 (GRCm39) |
N123S |
probably benign |
Het |
| Trio |
C |
T |
15: 27,824,176 (GRCm39) |
R1443Q |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,727,665 (GRCm39) |
Y462F |
possibly damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,832 (GRCm39) |
T148A |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,824,711 (GRCm39) |
N246K |
probably benign |
Het |
|
| Other mutations in Hyal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01768:Hyal1
|
APN |
9 |
107,456,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02265:Hyal1
|
APN |
9 |
107,455,107 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4377001:Hyal1
|
UTSW |
9 |
107,456,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0043:Hyal1
|
UTSW |
9 |
107,456,519 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0727:Hyal1
|
UTSW |
9 |
107,455,601 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1497:Hyal1
|
UTSW |
9 |
107,455,194 (GRCm39) |
splice site |
probably null |
|
|
R1499:Hyal1
|
UTSW |
9 |
107,455,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3903:Hyal1
|
UTSW |
9 |
107,456,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4662:Hyal1
|
UTSW |
9 |
107,456,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Hyal1
|
UTSW |
9 |
107,456,153 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5122:Hyal1
|
UTSW |
9 |
107,455,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5781:Hyal1
|
UTSW |
9 |
107,454,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Hyal1
|
UTSW |
9 |
107,456,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6651:Hyal1
|
UTSW |
9 |
107,456,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Hyal1
|
UTSW |
9 |
107,456,359 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7651:Hyal1
|
UTSW |
9 |
107,455,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Hyal1
|
UTSW |
9 |
107,455,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Hyal1
|
UTSW |
9 |
107,455,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCAAGGTAAGTGGAGGCCTG -3'
(R):5'- CGGCACCTGAATTTCATAGC -3'
Sequencing Primer
(F):5'- GCCTGGGAGTAGGGCAG -3'
(R):5'- GGCACCTGAATTTCATAGCCATCTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation