Incidental Mutation 'R6657:Hyal6'
ID |
526655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyal6
|
Ensembl Gene |
ENSMUSG00000029679 |
Gene Name |
hyaluronoglucosaminidase 6 |
Synonyms |
Hyal-ps1, 4932701A20Rik |
MMRRC Submission |
044778-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6657 (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 24734757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 230
(D230G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
AlphaFold |
Q9D4E9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031690
AA Change: D230G
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031690 Gene: ENSMUSG00000029679 AA Change: D230G
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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
T |
G |
8: 106,435,450 (GRCm39) |
L36R |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Akr1b7 |
A |
C |
6: 34,393,135 (GRCm39) |
D106A |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Chst5 |
C |
T |
8: 112,616,906 (GRCm39) |
R238Q |
probably benign |
Het |
Cpxm2 |
T |
C |
7: 131,650,806 (GRCm39) |
Y618C |
probably damaging |
Het |
Csnk1d |
T |
C |
11: 120,855,820 (GRCm39) |
E405G |
possibly damaging |
Het |
Ctsh |
A |
T |
9: 89,942,555 (GRCm39) |
M37L |
probably benign |
Het |
Eml5 |
T |
G |
12: 98,757,664 (GRCm39) |
I1843L |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,841,411 (GRCm39) |
|
probably benign |
Het |
Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
Gpc5 |
A |
G |
14: 115,607,610 (GRCm39) |
H404R |
probably benign |
Het |
Itga5 |
T |
C |
15: 103,259,222 (GRCm39) |
D735G |
probably damaging |
Het |
Kansl2 |
T |
A |
15: 98,422,551 (GRCm39) |
Q339L |
possibly damaging |
Het |
Lrp4 |
T |
A |
2: 91,322,398 (GRCm39) |
M1078K |
probably benign |
Het |
Mmp24 |
A |
T |
2: 155,640,099 (GRCm39) |
Y143F |
probably damaging |
Het |
Mroh7 |
A |
T |
4: 106,559,697 (GRCm39) |
C743* |
probably null |
Het |
Myh14 |
T |
C |
7: 44,287,270 (GRCm39) |
N618D |
probably damaging |
Het |
Myo19 |
A |
T |
11: 84,788,022 (GRCm39) |
M324L |
probably benign |
Het |
Nectin2 |
T |
C |
7: 19,472,065 (GRCm39) |
N108S |
probably benign |
Het |
Nrg2 |
A |
G |
18: 36,329,642 (GRCm39) |
I191T |
probably damaging |
Het |
Odf4 |
T |
C |
11: 68,817,638 (GRCm39) |
N18D |
probably benign |
Het |
Or5aq6 |
T |
A |
2: 86,923,403 (GRCm39) |
I113F |
probably benign |
Het |
Pcsk2 |
T |
G |
2: 143,532,286 (GRCm39) |
L145V |
probably damaging |
Het |
Pdzrn3 |
C |
A |
6: 101,127,983 (GRCm39) |
Q894H |
probably benign |
Het |
Pfpl |
G |
A |
19: 12,407,290 (GRCm39) |
V514I |
probably benign |
Het |
Plbd1 |
A |
T |
6: 136,594,250 (GRCm39) |
M333K |
probably damaging |
Het |
Plec |
A |
T |
15: 76,062,356 (GRCm39) |
M2554K |
possibly damaging |
Het |
Psmb5 |
A |
G |
14: 54,851,840 (GRCm39) |
Y115H |
possibly damaging |
Het |
Rictor |
A |
G |
15: 6,788,977 (GRCm39) |
N198D |
possibly damaging |
Het |
Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
Sec16a |
C |
T |
2: 26,315,876 (GRCm39) |
W262* |
probably null |
Het |
Sfmbt1 |
A |
G |
14: 30,488,053 (GRCm39) |
D8G |
possibly damaging |
Het |
Sptbn5 |
T |
G |
2: 119,906,881 (GRCm39) |
|
probably benign |
Het |
Sqor |
A |
G |
2: 122,649,514 (GRCm39) |
D139G |
possibly damaging |
Het |
Sugt1 |
A |
T |
14: 79,844,701 (GRCm39) |
T139S |
probably benign |
Het |
Tcp11 |
G |
A |
17: 28,290,646 (GRCm39) |
P159S |
probably damaging |
Het |
Tmem262 |
A |
G |
19: 6,130,542 (GRCm39) |
T89A |
possibly damaging |
Het |
Tnfaip6 |
C |
A |
2: 51,933,795 (GRCm39) |
T50N |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,826,182 (GRCm39) |
Y131H |
probably damaging |
Het |
Vmn1r173 |
T |
A |
7: 23,402,320 (GRCm39) |
M185K |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r52 |
G |
A |
7: 9,893,090 (GRCm39) |
T683I |
probably damaging |
Het |
Vps53 |
A |
T |
11: 76,025,253 (GRCm39) |
I197N |
probably damaging |
Het |
Washc4 |
T |
A |
10: 83,394,482 (GRCm39) |
F269L |
possibly damaging |
Het |
Wdfy4 |
C |
T |
14: 32,769,208 (GRCm39) |
V2086M |
possibly damaging |
Het |
Zfp592 |
A |
T |
7: 80,675,234 (GRCm39) |
T733S |
possibly damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,538 (GRCm39) |
F209S |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCTGCCCAGAAAGAATTTG -3'
(R):5'- CTGAGAGAGCTTCAATACTTTGC -3'
Sequencing Primer
(F):5'- CTGCCCAGAAAGAATTTGAAAATGC -3'
(R):5'- CTGGCAAAACATAGTCCTTTCTAGC -3'
|
Posted On |
2018-07-23 |