Incidental Mutation 'R6949:Hyal5'
| ID |
543236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyal5
|
| Ensembl Gene |
ENSMUSG00000029678 |
| Gene Name |
hyaluronoglucosaminidase 5 |
| Synonyms |
4933439A12Rik |
| MMRRC Submission |
045061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24857996-24891957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24876303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 59
(S59P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031689]
[ENSMUST00000200968]
|
| AlphaFold |
Q812F3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031689
AA Change: S59P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: S59P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
42 |
373 |
2.6e-142 |
PFAM |
|
Blast:EGF
|
375 |
438 |
3e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200968
AA Change: S59P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: S59P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
42 |
373 |
2.6e-142 |
PFAM |
|
Blast:EGF
|
375 |
438 |
3e-14 |
BLAST |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Reproduction is normal in mice with null mutations at this marker. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
T |
3: 126,804,533 (GRCm39) |
D679E |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,953,058 (GRCm39) |
Y96N |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,110,757 (GRCm39) |
I35V |
probably benign |
Het |
| Col16a1 |
A |
G |
4: 129,953,116 (GRCm39) |
E424G |
probably damaging |
Het |
| Ctsc |
G |
T |
7: 87,930,666 (GRCm39) |
G82W |
probably damaging |
Het |
| Cxcr4 |
T |
C |
1: 128,517,352 (GRCm39) |
D101G |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,884,138 (GRCm39) |
N635K |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,382,913 (GRCm39) |
M282T |
probably damaging |
Het |
| Dpysl4 |
G |
A |
7: 138,671,915 (GRCm39) |
E172K |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,799,896 (GRCm39) |
T2931P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,855,829 (GRCm39) |
I211T |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,211,144 (GRCm39) |
W386R |
probably benign |
Het |
| Garin1b |
T |
A |
6: 29,323,905 (GRCm39) |
I210N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,623,265 (GRCm39) |
K146R |
probably benign |
Het |
| Grm7 |
C |
A |
6: 111,472,690 (GRCm39) |
P843Q |
probably damaging |
Het |
| Gtf2e2 |
A |
G |
8: 34,248,726 (GRCm39) |
D171G |
probably damaging |
Het |
| Il7r |
T |
A |
15: 9,508,090 (GRCm39) |
T411S |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,484,611 (GRCm39) |
|
probably null |
Het |
| Krcc1 |
T |
C |
6: 71,261,135 (GRCm39) |
Y56H |
probably benign |
Het |
| Lmo2 |
T |
A |
2: 103,801,018 (GRCm39) |
M1K |
probably null |
Het |
| Lrit3 |
G |
A |
3: 129,582,934 (GRCm39) |
T351I |
probably damaging |
Het |
| Mcu |
T |
G |
10: 59,292,566 (GRCm39) |
T38P |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,820,688 (GRCm39) |
I89N |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,226,725 (GRCm39) |
C996S |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,640,597 (GRCm39) |
E350G |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,792 (GRCm39) |
Y133C |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,996 (GRCm39) |
E818G |
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,794,143 (GRCm39) |
Q210K |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,351 (GRCm39) |
V250M |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,456,736 (GRCm39) |
C218S |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,617,853 (GRCm39) |
R3228H |
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,744,938 (GRCm39) |
T518S |
probably benign |
Het |
| Rdh8 |
T |
A |
9: 20,734,003 (GRCm39) |
V63D |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,470 (GRCm39) |
V196A |
possibly damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Scn11a |
A |
G |
9: 119,594,580 (GRCm39) |
V1271A |
probably benign |
Het |
| Serac1 |
C |
A |
17: 6,102,090 (GRCm39) |
D395Y |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,771 (GRCm39) |
D2655G |
probably benign |
Het |
| Tm4sf19 |
T |
C |
16: 32,224,676 (GRCm39) |
V8A |
probably benign |
Het |
| Usp3 |
A |
T |
9: 66,427,972 (GRCm39) |
D334E |
probably benign |
Het |
| Uty |
C |
T |
Y: 1,240,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,542 (GRCm39) |
N672D |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,100 (GRCm39) |
L751H |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,254,616 (GRCm39) |
S300G |
probably damaging |
Het |
| Zp3r |
G |
T |
1: 130,505,632 (GRCm39) |
S508R |
probably benign |
Het |
|
| Other mutations in Hyal5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Hyal5
|
APN |
6 |
24,876,480 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01407:Hyal5
|
APN |
6 |
24,876,406 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01799:Hyal5
|
APN |
6 |
24,891,336 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02070:Hyal5
|
APN |
6 |
24,876,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02087:Hyal5
|
APN |
6 |
24,876,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Hyal5
|
APN |
6 |
24,877,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02321:Hyal5
|
APN |
6 |
24,891,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02975:Hyal5
|
APN |
6 |
24,891,451 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03299:Hyal5
|
APN |
6 |
24,877,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Hyal5
|
UTSW |
6 |
24,876,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Hyal5
|
UTSW |
6 |
24,876,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Hyal5
|
UTSW |
6 |
24,877,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Hyal5
|
UTSW |
6 |
24,877,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1575:Hyal5
|
UTSW |
6 |
24,876,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Hyal5
|
UTSW |
6 |
24,876,193 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2182:Hyal5
|
UTSW |
6 |
24,877,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Hyal5
|
UTSW |
6 |
24,876,523 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3877:Hyal5
|
UTSW |
6 |
24,876,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Hyal5
|
UTSW |
6 |
24,876,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4826:Hyal5
|
UTSW |
6 |
24,891,575 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5058:Hyal5
|
UTSW |
6 |
24,891,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Hyal5
|
UTSW |
6 |
24,891,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5249:Hyal5
|
UTSW |
6 |
24,876,648 (GRCm39) |
nonsense |
probably null |
|
|
R5459:Hyal5
|
UTSW |
6 |
24,891,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5685:Hyal5
|
UTSW |
6 |
24,876,691 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5741:Hyal5
|
UTSW |
6 |
24,876,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Hyal5
|
UTSW |
6 |
24,891,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6156:Hyal5
|
UTSW |
6 |
24,891,437 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6351:Hyal5
|
UTSW |
6 |
24,891,708 (GRCm39) |
splice site |
probably null |
|
|
R6573:Hyal5
|
UTSW |
6 |
24,891,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6966:Hyal5
|
UTSW |
6 |
24,891,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Hyal5
|
UTSW |
6 |
24,876,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Hyal5
|
UTSW |
6 |
24,875,983 (GRCm39) |
start gained |
probably benign |
|
|
R7836:Hyal5
|
UTSW |
6 |
24,891,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Hyal5
|
UTSW |
6 |
24,876,196 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8127:Hyal5
|
UTSW |
6 |
24,891,487 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8220:Hyal5
|
UTSW |
6 |
24,876,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9214:Hyal5
|
UTSW |
6 |
24,876,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Hyal5
|
UTSW |
6 |
24,876,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9636:Hyal5
|
UTSW |
6 |
24,876,656 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9675:Hyal5
|
UTSW |
6 |
24,876,635 (GRCm39) |
missense |
probably benign |
0.27 |
|
X0061:Hyal5
|
UTSW |
6 |
24,876,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCAAATATTTGAGAGACCAAAG -3'
(R):5'- ATTTTAGAGACACCAGCTGGG -3'
Sequencing Primer
(F):5'- AATTCTCTGCAATGAGAGTGTTG -3'
(R):5'- GGTAGCCCTCCATTAAAAATTAATTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation