Incidental Mutation 'R5648:Hyal6'
ID |
441264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyal6
|
Ensembl Gene |
ENSMUSG00000029679 |
Gene Name |
hyaluronoglucosaminidase 6 |
Synonyms |
Hyal-ps1, 4932701A20Rik |
MMRRC Submission |
043169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5648 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
24733244-24745451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24734235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 56
(M56T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
|
AlphaFold |
Q9D4E9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031690
AA Change: M56T
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031690 Gene: ENSMUSG00000029679 AA Change: M56T
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,767,362 (GRCm39) |
L250P |
probably damaging |
Het |
Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTTCCGGCATGCTGAAAAC -3'
(R):5'- CAAAGTGACAGCATCTGCAATG -3'
Sequencing Primer
(F):5'- CAGCAATCCATGTTTATCCAGTGGG -3'
(R):5'- AGCATCTGCAATGTCGCC -3'
|
Posted On |
2016-11-08 |