Incidental Mutation 'R8294:Hyal6'
ID |
638846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyal6
|
Ensembl Gene |
ENSMUSG00000029679 |
Gene Name |
hyaluronoglucosaminidase 6 |
Synonyms |
Hyal-ps1, 4932701A20Rik |
MMRRC Submission |
067784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R8294 (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 C
at 24734378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 104
(K104Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
AlphaFold |
Q9D4E9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031690
AA Change: K104Q
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031690 Gene: ENSMUSG00000029679 AA Change: K104Q
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,897,217 (GRCm39) |
V632A |
possibly damaging |
Het |
Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
Acat2 |
T |
C |
17: 13,175,243 (GRCm39) |
I79V |
probably benign |
Het |
Arid3a |
A |
T |
10: 79,786,535 (GRCm39) |
|
silent |
Het |
Cecr2 |
C |
T |
6: 120,710,747 (GRCm39) |
A154V |
probably damaging |
Het |
Cog3 |
A |
C |
14: 75,954,619 (GRCm39) |
L650R |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,606,594 (GRCm39) |
F610I |
possibly damaging |
Het |
Col24a1 |
A |
G |
3: 145,186,844 (GRCm39) |
D1215G |
probably null |
Het |
Ctsh |
C |
G |
9: 89,950,489 (GRCm39) |
A219G |
possibly damaging |
Het |
Dnah10 |
C |
T |
5: 124,859,410 (GRCm39) |
L2126F |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,488,079 (GRCm39) |
V2028A |
possibly damaging |
Het |
Ece1 |
T |
C |
4: 137,675,931 (GRCm39) |
V435A |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
H4c1 |
A |
G |
13: 23,944,957 (GRCm39) |
F62L |
probably damaging |
Het |
Hk1 |
T |
G |
10: 62,131,624 (GRCm39) |
I245L |
probably benign |
Het |
Kalrn |
T |
C |
16: 33,853,954 (GRCm39) |
I2017V |
probably benign |
Het |
Khdc4 |
C |
T |
3: 88,603,915 (GRCm39) |
A244V |
probably damaging |
Het |
Krt72 |
A |
T |
15: 101,694,472 (GRCm39) |
L141Q |
probably damaging |
Het |
Map3k4 |
C |
A |
17: 12,537,500 (GRCm39) |
A6S |
unknown |
Het |
Muc6 |
T |
C |
7: 141,217,263 (GRCm39) |
Y2470C |
possibly damaging |
Het |
Nrip1 |
A |
G |
16: 76,089,418 (GRCm39) |
V713A |
probably damaging |
Het |
Or10q1b |
A |
G |
19: 13,683,010 (GRCm39) |
D273G |
probably benign |
Het |
Or11g26 |
A |
G |
14: 50,753,083 (GRCm39) |
T141A |
possibly damaging |
Het |
Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
Or6aa1 |
T |
C |
7: 86,044,487 (GRCm39) |
Y73C |
probably damaging |
Het |
Paip1 |
C |
T |
13: 119,587,300 (GRCm39) |
T304I |
possibly damaging |
Het |
Pde4dip |
A |
G |
3: 97,674,694 (GRCm39) |
L74P |
probably damaging |
Het |
Prkch |
T |
A |
12: 73,806,484 (GRCm39) |
L577H |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,416,220 (GRCm39) |
S1631P |
probably benign |
Het |
Rph3a |
A |
G |
5: 121,099,429 (GRCm39) |
F154S |
probably damaging |
Het |
S1pr5 |
A |
G |
9: 21,156,300 (GRCm39) |
V42A |
possibly damaging |
Het |
Scaper |
G |
A |
9: 55,517,280 (GRCm39) |
L1052F |
possibly damaging |
Het |
Slc44a2 |
G |
T |
9: 21,259,643 (GRCm39) |
V597F |
probably damaging |
Het |
Srsf1 |
T |
A |
11: 87,939,467 (GRCm39) |
S116T |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,345,027 (GRCm39) |
D1004G |
probably benign |
Het |
St3gal5 |
T |
A |
6: 72,074,816 (GRCm39) |
D25E |
|
Het |
Syt17 |
A |
T |
7: 118,009,228 (GRCm39) |
Y327N |
probably damaging |
Het |
T |
T |
A |
17: 8,653,364 (GRCm39) |
M1K |
probably null |
Het |
Tmem201 |
A |
T |
4: 149,815,554 (GRCm39) |
I132N |
possibly damaging |
Het |
Tmprss15 |
A |
T |
16: 78,868,176 (GRCm39) |
C211S |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,331,588 (GRCm39) |
D7G |
probably benign |
Het |
Trip11 |
T |
A |
12: 101,811,160 (GRCm39) |
K1863N |
possibly damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,322,978 (GRCm39) |
S104T |
probably benign |
Het |
Zfp977 |
T |
C |
7: 42,229,689 (GRCm39) |
T279A |
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 |
R8200:Hyal6
|
UTSW |
6 |
24,734,565 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TTCAACGTTTTCTGGGCCG -3'
(R):5'- TTGTTTCTGCCCAGTCAGGATG -3'
Sequencing Primer
(F):5'- CGCCCCTACTTTGTTTTGTAAAG -3'
(R):5'- CCCAGTCAGGATGGTGGTGTC -3'
|
Posted On |
2020-07-28 |