Incidental Mutation 'R7630:Hyal6'
ID |
589592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyal6
|
Ensembl Gene |
ENSMUSG00000029679 |
Gene Name |
hyaluronoglucosaminidase 6 |
Synonyms |
Hyal-ps1, 4932701A20Rik |
MMRRC Submission |
045691-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R7630 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
24733244-24745451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24734583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 172
(V172A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
AlphaFold |
Q9D4E9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031690
AA Change: V172A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031690 Gene: ENSMUSG00000029679 AA Change: V172A
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
93% (40/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
Agbl1 |
A |
T |
7: 76,535,904 (GRCm39) |
I1019F |
unknown |
Het |
Arhgap15 |
A |
G |
2: 43,670,648 (GRCm39) |
T11A |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,613,213 (GRCm39) |
|
probably null |
Het |
Aup1 |
C |
A |
6: 83,031,904 (GRCm39) |
D50E |
unknown |
Het |
Ccl25 |
A |
G |
8: 4,403,955 (GRCm39) |
Y49C |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,297,127 (GRCm39) |
D148G |
probably damaging |
Het |
Cpeb3 |
A |
T |
19: 37,031,693 (GRCm39) |
F570I |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,373,120 (GRCm39) |
|
probably null |
Het |
Eif2d |
C |
T |
1: 131,082,103 (GRCm39) |
T65M |
probably benign |
Het |
Fryl |
T |
C |
5: 73,267,588 (GRCm39) |
I426V |
possibly damaging |
Het |
Hgf |
T |
C |
5: 16,803,248 (GRCm39) |
S387P |
probably benign |
Het |
Il10ra |
T |
C |
9: 45,167,369 (GRCm39) |
D396G |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,142,131 (GRCm39) |
D795G |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,755,568 (GRCm39) |
S448T |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,044,824 (GRCm39) |
D1582G |
possibly damaging |
Het |
Or14c42-ps1 |
T |
C |
7: 86,211,680 (GRCm39) |
S247P |
probably damaging |
Het |
Or1l4b |
A |
C |
2: 37,036,371 (GRCm39) |
D49A |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,846,452 (GRCm39) |
I741V |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,074,816 (GRCm39) |
|
probably null |
Het |
Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
Prkn |
A |
G |
17: 11,456,455 (GRCm39) |
E93G |
probably benign |
Het |
Rexo4 |
A |
T |
2: 26,850,622 (GRCm39) |
F247I |
probably damaging |
Het |
Rph3a |
T |
C |
5: 121,081,113 (GRCm39) |
D628G |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Rxylt1 |
T |
C |
10: 121,931,865 (GRCm39) |
I103V |
possibly damaging |
Het |
Scnn1g |
T |
C |
7: 121,359,704 (GRCm39) |
S396P |
probably damaging |
Het |
Slc1a5 |
G |
A |
7: 16,529,732 (GRCm39) |
V384M |
probably damaging |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,873,681 (GRCm39) |
V1154A |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,667,734 (GRCm39) |
V105A |
probably benign |
Het |
Tapbp |
T |
C |
17: 34,139,318 (GRCm39) |
S105P |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,240,768 (GRCm39) |
E60G |
possibly damaging |
Het |
Txnrd2 |
A |
G |
16: 18,257,140 (GRCm39) |
D152G |
possibly damaging |
Het |
Vcl |
T |
A |
14: 21,033,470 (GRCm39) |
L142* |
probably null |
Het |
Vmn2r58 |
T |
C |
7: 41,513,611 (GRCm39) |
Y344C |
probably damaging |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,044,909 (GRCm39) |
D442G |
probably benign |
Het |
Xpo6 |
A |
T |
7: 125,739,561 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGAATACCTCAGAAAGTGAACC -3'
(R):5'- TCATCATCTGGGCAACTTCCTG -3'
Sequencing Primer
(F):5'- TCAGAAAGTGAACCTCTCTGAG -3'
(R):5'- ATCTGGGCAACTTCCTGTGTAGAAC -3'
|
Posted On |
2019-10-24 |