Incidental Mutation 'R4031:Hyal4'
| ID |
313489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyal4
|
| Ensembl Gene |
ENSMUSG00000029680 |
| Gene Name |
hyaluronoglucosaminidase 4 |
| Synonyms |
|
| MMRRC Submission |
040960-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24748329-24767662 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24756224 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 147
(E147G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031691]
|
| AlphaFold |
Q05A56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031691
AA Change: E147G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: E147G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
41 |
373 |
3e-137 |
PFAM |
|
EGF
|
375 |
447 |
2.81e0 |
SMART |
|
low complexity region
|
453 |
473 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7749 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
95% (52/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is similar in structure to hyaluronidases. 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. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 86,517,448 (GRCm38) |
F1025L |
probably damaging |
Het |
| Acss2 |
C |
T |
2: 155,557,210 (GRCm38) |
T477I |
probably damaging |
Het |
| Aplp2 |
G |
A |
9: 31,157,730 (GRCm38) |
P601L |
probably benign |
Het |
| Arl2bp |
T |
C |
8: 94,667,653 (GRCm38) |
I32T |
probably damaging |
Het |
| Avpi1 |
C |
A |
19: 42,124,741 (GRCm38) |
|
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,725,542 (GRCm38) |
Y109C |
unknown |
Het |
| Ccdc150 |
T |
A |
1: 54,278,811 (GRCm38) |
M303K |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,998,086 (GRCm38) |
W61R |
probably damaging |
Het |
| Copa |
T |
C |
1: 172,108,375 (GRCm38) |
V428A |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,079,869 (GRCm38) |
Y29H |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,534,637 (GRCm38) |
D89G |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,791,880 (GRCm38) |
I1031T |
probably benign |
Het |
| Elf1 |
A |
C |
14: 79,569,283 (GRCm38) |
K161Q |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,769,752 (GRCm38) |
Y1159* |
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,800,857 (GRCm38) |
N449S |
probably benign |
Het |
| Hydin |
T |
C |
8: 110,610,047 (GRCm38) |
I5152T |
probably benign |
Het |
| Ighv9-1 |
C |
T |
12: 114,094,224 (GRCm38) |
A19T |
probably benign |
Het |
| Kcnt1 |
T |
G |
2: 25,916,048 (GRCm38) |
S1216R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 916,910 (GRCm38) |
V435E |
probably damaging |
Het |
| Klhl30 |
G |
A |
1: 91,361,157 (GRCm38) |
R546H |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,702,848 (GRCm38) |
G3753D |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,754,022 (GRCm38) |
R854Q |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,381,312 (GRCm38) |
L6303P |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,750,089 (GRCm38) |
S195P |
possibly damaging |
Het |
| Mindy3 |
A |
C |
2: 12,401,083 (GRCm38) |
|
probably null |
Het |
| Neurod1 |
C |
T |
2: 79,454,026 (GRCm38) |
D338N |
probably benign |
Het |
| Polr1e |
A |
T |
4: 45,018,685 (GRCm38) |
E5V |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,348,405 (GRCm38) |
R1141H |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,028,976 (GRCm38) |
S79G |
probably damaging |
Het |
| Psmd2 |
G |
A |
16: 20,663,205 (GRCm38) |
G896D |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 139,050,592 (GRCm38) |
|
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,985,668 (GRCm38) |
|
probably null |
Het |
| Slc26a10 |
A |
G |
10: 127,178,002 (GRCm38) |
V297A |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 21,847,191 (GRCm38) |
K47E |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,727,487 (GRCm38) |
E58G |
probably damaging |
Het |
| Spo11 |
T |
A |
2: 172,986,832 (GRCm38) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,198,344 (GRCm38) |
|
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,451,670 (GRCm38) |
I272T |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,014,829 (GRCm38) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,754,824 (GRCm38) |
I22042F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,072,759 (GRCm38) |
S671T |
possibly damaging |
Het |
| Usp43 |
G |
T |
11: 67,913,833 (GRCm38) |
A186D |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,375,221 (GRCm38) |
V679I |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,465,374 (GRCm38) |
A333V |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,768,232 (GRCm38) |
|
probably null |
Het |
| Wdr49 |
C |
A |
3: 75,323,665 (GRCm38) |
L563F |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,951,068 (GRCm38) |
T1141A |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,624,465 (GRCm38) |
E1052V |
probably damaging |
Het |
| Zfp317 |
A |
T |
9: 19,646,712 (GRCm38) |
H163L |
possibly damaging |
Het |
| Zfp975 |
G |
A |
7: 42,662,953 (GRCm38) |
Q79* |
probably null |
Het |
|
| Other mutations in Hyal4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Hyal4
|
APN |
6 |
24,755,872 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01791:Hyal4
|
APN |
6 |
24,763,895 (GRCm38) |
splice site |
probably benign |
|
|
IGL02434:Hyal4
|
APN |
6 |
24,763,858 (GRCm38) |
nonsense |
probably null |
|
|
IGL02523:Hyal4
|
APN |
6 |
24,765,969 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03114:Hyal4
|
APN |
6 |
24,755,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02835:Hyal4
|
UTSW |
6 |
24,765,715 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4494001:Hyal4
|
UTSW |
6 |
24,755,834 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0196:Hyal4
|
UTSW |
6 |
24,756,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0323:Hyal4
|
UTSW |
6 |
24,756,194 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0398:Hyal4
|
UTSW |
6 |
24,756,671 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0946:Hyal4
|
UTSW |
6 |
24,755,913 (GRCm38) |
nonsense |
probably null |
|
|
R0961:Hyal4
|
UTSW |
6 |
24,755,746 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1906:Hyal4
|
UTSW |
6 |
24,756,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1998:Hyal4
|
UTSW |
6 |
24,756,311 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2085:Hyal4
|
UTSW |
6 |
24,755,750 (GRCm38) |
start gained |
probably benign |
|
|
R2483:Hyal4
|
UTSW |
6 |
24,765,738 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3622:Hyal4
|
UTSW |
6 |
24,765,738 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3623:Hyal4
|
UTSW |
6 |
24,765,738 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3624:Hyal4
|
UTSW |
6 |
24,765,738 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3712:Hyal4
|
UTSW |
6 |
24,756,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5762:Hyal4
|
UTSW |
6 |
24,765,862 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6177:Hyal4
|
UTSW |
6 |
24,766,090 (GRCm38) |
nonsense |
probably null |
|
|
R6442:Hyal4
|
UTSW |
6 |
24,765,850 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6494:Hyal4
|
UTSW |
6 |
24,765,746 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6901:Hyal4
|
UTSW |
6 |
24,756,191 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7565:Hyal4
|
UTSW |
6 |
24,765,934 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7973:Hyal4
|
UTSW |
6 |
24,755,786 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R7977:Hyal4
|
UTSW |
6 |
24,763,866 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7987:Hyal4
|
UTSW |
6 |
24,763,866 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8020:Hyal4
|
UTSW |
6 |
24,755,996 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8676:Hyal4
|
UTSW |
6 |
24,755,827 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9331:Hyal4
|
UTSW |
6 |
24,765,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9573:Hyal4
|
UTSW |
6 |
24,756,509 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
Z1176:Hyal4
|
UTSW |
6 |
24,756,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGATGGTTGGAAGCCCTC -3'
(R):5'- TAATAACCCCAAAGGCCCTTGG -3'
Sequencing Primer
(F):5'- CTCGGCTCAAAGACAGGG -3'
(R):5'- AAAGGCCCTTGGGTCTGCTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation