Incidental Mutation 'R8200:Hyal6'
ID |
635625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyal6
|
Ensembl Gene |
ENSMUSG00000029679 |
Gene Name |
hyaluronoglucosaminidase 6 |
Synonyms |
Hyal-ps1, 4932701A20Rik |
MMRRC Submission |
067623-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R8200 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
24733244-24745451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24734565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 166
(D166G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
AlphaFold |
Q9D4E9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031690
AA Change: D166G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031690 Gene: ENSMUSG00000029679 AA Change: D166G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_56
|
30 |
363 |
4.8e-136 |
PFAM |
EGF
|
365 |
438 |
6.02e0 |
SMART |
transmembrane domain
|
457 |
479 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555G01Rik |
T |
A |
14: 5,052,797 (GRCm38) |
M132K |
probably benign |
Het |
Abtb2 |
A |
G |
2: 103,531,162 (GRCm39) |
I431V |
probably benign |
Het |
Ache |
A |
G |
5: 137,292,457 (GRCm39) |
Q601R |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,558,766 (GRCm39) |
C279* |
probably null |
Het |
Brms1l |
T |
C |
12: 55,891,183 (GRCm39) |
L79P |
probably damaging |
Het |
Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
Catsperd |
T |
C |
17: 56,939,368 (GRCm39) |
|
probably null |
Het |
Ccnb1ip1 |
C |
T |
14: 51,029,750 (GRCm39) |
R104H |
probably benign |
Het |
Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
Cmbl |
T |
C |
15: 31,585,539 (GRCm39) |
V141A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,387,630 (GRCm39) |
H69Q |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,905,524 (GRCm39) |
L4113P |
probably damaging |
Het |
Fam120a |
T |
C |
13: 49,102,595 (GRCm39) |
H220R |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Gm43218 |
C |
T |
6: 70,217,528 (GRCm39) |
G76E |
probably damaging |
Het |
Gypa |
A |
T |
8: 81,220,695 (GRCm39) |
T5S |
unknown |
Het |
Immt |
T |
A |
6: 71,848,421 (GRCm39) |
V470D |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,371,826 (GRCm39) |
S1167G |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,209,331 (GRCm39) |
|
probably null |
Het |
Nr1i3 |
C |
A |
1: 171,045,266 (GRCm39) |
H305N |
probably benign |
Het |
Nucb2 |
T |
C |
7: 116,132,398 (GRCm39) |
|
probably null |
Het |
Plau |
A |
C |
14: 20,889,181 (GRCm39) |
K130T |
possibly damaging |
Het |
Ppef2 |
A |
T |
5: 92,393,251 (GRCm39) |
V246E |
probably benign |
Het |
Prune2 |
G |
A |
19: 17,102,337 (GRCm39) |
V2499I |
probably benign |
Het |
Rnf207 |
C |
T |
4: 152,398,492 (GRCm39) |
|
probably null |
Het |
Septin9 |
A |
G |
11: 117,123,542 (GRCm39) |
T7A |
probably benign |
Het |
Sh3bp5l |
T |
C |
11: 58,222,685 (GRCm39) |
I60T |
probably damaging |
Het |
Taar9 |
A |
G |
10: 23,985,317 (GRCm39) |
L39P |
probably damaging |
Het |
Tcl1b5 |
A |
T |
12: 105,145,212 (GRCm39) |
M59L |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Thap2 |
A |
T |
10: 115,212,392 (GRCm39) |
F44L |
|
Het |
Trp53bp1 |
A |
G |
2: 121,066,657 (GRCm39) |
S690P |
probably benign |
Het |
Ttc9 |
T |
C |
12: 81,707,435 (GRCm39) |
Y165H |
probably damaging |
Het |
Ttll11 |
A |
G |
2: 35,834,940 (GRCm39) |
I162T |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
Tuft1 |
A |
T |
3: 94,523,977 (GRCm39) |
D292E |
probably damaging |
Het |
Ubap2l |
T |
C |
3: 89,930,933 (GRCm39) |
S365G |
probably benign |
Het |
Ugt2b37 |
G |
A |
5: 87,388,750 (GRCm39) |
Q488* |
probably null |
Het |
Vmo1 |
A |
G |
11: 70,405,325 (GRCm39) |
V35A |
possibly damaging |
Het |
Wdr36 |
A |
G |
18: 32,998,979 (GRCm39) |
K875R |
probably benign |
Het |
|
Other mutations in Hyal6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Hyal6
|
APN |
6 |
24,734,178 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02269:Hyal6
|
APN |
6 |
24,740,858 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02729:Hyal6
|
APN |
6 |
24,734,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02793:Hyal6
|
APN |
6 |
24,734,378 (GRCm39) |
nonsense |
probably null |
|
IGL02943:Hyal6
|
APN |
6 |
24,743,438 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03351:Hyal6
|
APN |
6 |
24,743,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Hyal6
|
UTSW |
6 |
24,743,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R0517:Hyal6
|
UTSW |
6 |
24,734,852 (GRCm39) |
missense |
probably benign |
|
R0853:Hyal6
|
UTSW |
6 |
24,734,072 (GRCm39) |
missense |
probably benign |
|
R1182:Hyal6
|
UTSW |
6 |
24,743,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Hyal6
|
UTSW |
6 |
24,743,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1780:Hyal6
|
UTSW |
6 |
24,734,031 (GRCm39) |
splice site |
probably benign |
|
R1858:Hyal6
|
UTSW |
6 |
24,740,857 (GRCm39) |
missense |
probably benign |
0.01 |
R2011:Hyal6
|
UTSW |
6 |
24,734,723 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3441:Hyal6
|
UTSW |
6 |
24,734,592 (GRCm39) |
missense |
probably benign |
|
R4819:Hyal6
|
UTSW |
6 |
24,734,965 (GRCm39) |
nonsense |
probably null |
|
R5357:Hyal6
|
UTSW |
6 |
24,734,517 (GRCm39) |
missense |
probably benign |
0.05 |
R5648:Hyal6
|
UTSW |
6 |
24,734,235 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5717:Hyal6
|
UTSW |
6 |
24,743,690 (GRCm39) |
missense |
probably benign |
0.15 |
R5884:Hyal6
|
UTSW |
6 |
24,743,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Hyal6
|
UTSW |
6 |
24,734,757 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6826:Hyal6
|
UTSW |
6 |
24,734,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7178:Hyal6
|
UTSW |
6 |
24,734,834 (GRCm39) |
missense |
probably benign |
0.28 |
R7531:Hyal6
|
UTSW |
6 |
24,740,786 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7630:Hyal6
|
UTSW |
6 |
24,734,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7787:Hyal6
|
UTSW |
6 |
24,743,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R7851:Hyal6
|
UTSW |
6 |
24,734,497 (GRCm39) |
missense |
probably benign |
0.05 |
R8132:Hyal6
|
UTSW |
6 |
24,740,827 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8294:Hyal6
|
UTSW |
6 |
24,734,378 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8300:Hyal6
|
UTSW |
6 |
24,734,087 (GRCm39) |
missense |
probably benign |
|
R8509:Hyal6
|
UTSW |
6 |
24,734,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R8705:Hyal6
|
UTSW |
6 |
24,734,673 (GRCm39) |
missense |
probably benign |
0.01 |
R8917:Hyal6
|
UTSW |
6 |
24,734,103 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9133:Hyal6
|
UTSW |
6 |
24,734,585 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9149:Hyal6
|
UTSW |
6 |
24,734,151 (GRCm39) |
missense |
probably benign |
0.02 |
R9325:Hyal6
|
UTSW |
6 |
24,743,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Hyal6
|
UTSW |
6 |
24,734,929 (GRCm39) |
nonsense |
probably null |
|
X0019:Hyal6
|
UTSW |
6 |
24,734,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACCTCAGGAAAAGTGCC -3'
(R):5'- AGCCACATGAGTTGGTCATTG -3'
Sequencing Primer
(F):5'- AAAGTGCCGGCGACATTGC -3'
(R):5'- ATCTGGGCAACTTCCTGTGTAGAAC -3'
|
Posted On |
2020-07-13 |