Incidental Mutation 'IGL02269:Hyal6'
ID |
287074 |
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 # |
IGL02269
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
24733244-24745451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24740858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 337
(T337I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
AlphaFold |
Q9D4E9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031690
AA Change: T337I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031690 Gene: ENSMUSG00000029679 AA Change: T337I
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
G |
11: 50,833,425 (GRCm39) |
V59A |
unknown |
Het |
A2ml1 |
C |
A |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
Akap13 |
G |
A |
7: 75,252,659 (GRCm39) |
R263H |
probably benign |
Het |
B3galt5 |
A |
G |
16: 96,116,730 (GRCm39) |
D121G |
possibly damaging |
Het |
Becn1 |
A |
G |
11: 101,182,361 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,339,393 (GRCm39) |
L150* |
probably null |
Het |
Cep170 |
A |
T |
1: 176,596,932 (GRCm39) |
M475K |
probably benign |
Het |
Cyp24a1 |
C |
T |
2: 170,338,492 (GRCm39) |
G68D |
probably damaging |
Het |
Cyp3a44 |
A |
T |
5: 145,742,547 (GRCm39) |
I18N |
probably benign |
Het |
Dmrt2 |
T |
C |
19: 25,655,823 (GRCm39) |
V474A |
probably benign |
Het |
Dtnb |
A |
G |
12: 3,646,691 (GRCm39) |
D64G |
probably damaging |
Het |
Epb41l3 |
T |
C |
17: 69,554,568 (GRCm39) |
S223P |
probably damaging |
Het |
Ephb2 |
A |
G |
4: 136,498,360 (GRCm39) |
Y240H |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,315,032 (GRCm39) |
Y50C |
probably damaging |
Het |
Fat3 |
A |
C |
9: 15,826,873 (GRCm39) |
S4360A |
possibly damaging |
Het |
Fbxo9 |
A |
T |
9: 77,994,835 (GRCm39) |
V230E |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,609,045 (GRCm39) |
M971T |
probably benign |
Het |
Gm7275 |
A |
G |
16: 47,894,185 (GRCm39) |
|
noncoding transcript |
Het |
Obsl1 |
C |
T |
1: 75,464,357 (GRCm39) |
V1650M |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,579 (GRCm39) |
S188T |
possibly damaging |
Het |
Or52z14 |
T |
A |
7: 103,253,089 (GRCm39) |
I76N |
probably damaging |
Het |
Or7e169 |
A |
T |
9: 19,757,024 (GRCm39) |
I297N |
possibly damaging |
Het |
Or8c8 |
A |
T |
9: 38,165,232 (GRCm39) |
D173V |
possibly damaging |
Het |
Pcdh7 |
A |
C |
5: 58,070,664 (GRCm39) |
E1114A |
probably damaging |
Het |
Pde8a |
C |
T |
7: 80,958,550 (GRCm39) |
|
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,667,731 (GRCm39) |
S628C |
probably damaging |
Het |
Pear1 |
C |
T |
3: 87,663,571 (GRCm39) |
G376S |
probably damaging |
Het |
Plekha6 |
C |
T |
1: 133,215,587 (GRCm39) |
T644M |
possibly damaging |
Het |
Plpp1 |
T |
A |
13: 112,993,526 (GRCm39) |
C153S |
probably damaging |
Het |
Ptpn3 |
G |
A |
4: 57,197,510 (GRCm39) |
T793M |
possibly damaging |
Het |
Rdh13 |
A |
T |
7: 4,448,497 (GRCm39) |
L5Q |
possibly damaging |
Het |
Rimbp2 |
G |
T |
5: 128,851,359 (GRCm39) |
D862E |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Scamp1 |
C |
T |
13: 94,368,694 (GRCm39) |
|
probably benign |
Het |
Scamp3 |
A |
G |
3: 89,088,041 (GRCm39) |
T178A |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,863,628 (GRCm39) |
V853A |
probably benign |
Het |
Snrnp200 |
C |
T |
2: 127,071,911 (GRCm39) |
T1197M |
possibly damaging |
Het |
Sult3a1 |
T |
C |
10: 33,755,259 (GRCm39) |
F275L |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,473,029 (GRCm39) |
I905F |
probably damaging |
Het |
Tgm3 |
T |
A |
2: 129,866,438 (GRCm39) |
S119T |
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
Tmem45b |
G |
T |
9: 31,339,279 (GRCm39) |
C145* |
probably null |
Het |
Unc5c |
G |
A |
3: 141,494,743 (GRCm39) |
R352H |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,234,343 (GRCm39) |
L623P |
probably damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,870,947 (GRCm39) |
M779V |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,309,393 (GRCm39) |
N902S |
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 |
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 |
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 |