Incidental Mutation 'IGL02729:Hyal6'
| ID |
305366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hyal6
|
| Ensembl Gene |
ENSMUSG00000029679 |
| Gene Name |
hyaluronoglucosaminidase 6 |
| Synonyms |
Hyal-ps1, 4932701A20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24733244-24745451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24734694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 209
(Y209S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
| AlphaFold |
Q9D4E9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031690
AA Change: Y209S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: Y209S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
| Irf4 |
T |
C |
13: 30,937,574 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
| Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,742,795 (GRCm39) |
D604E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
| Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,263,823 (GRCm39) |
H276Q |
probably benign |
Het |
| Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,034,082 (GRCm39) |
M1V |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
| Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
| Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
| Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
| Taf1b |
A |
G |
12: 24,597,624 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,397,285 (GRCm39) |
V3I |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
| Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
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 |
|
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 |
|
R8200:Hyal6
|
UTSW |
6 |
24,734,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation