Incidental Mutation 'R1182:Hyal6'
| ID |
101643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyal6
|
| Ensembl Gene |
ENSMUSG00000029679 |
| Gene Name |
hyaluronoglucosaminidase 6 |
| Synonyms |
Hyal-ps1, 4932701A20Rik |
| MMRRC Submission |
039254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1182 (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 A
at 24743416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 371
(C371S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031690]
[ENSMUST00000031691]
|
| AlphaFold |
Q9D4E9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031690
AA Change: C371S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: C371S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031691
|
| SMART Domains |
Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
41 |
373 |
3e-137 |
PFAM |
|
EGF
|
375 |
447 |
2.81e0 |
SMART |
|
low complexity region
|
453 |
473 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
A |
8: 84,656,451 (GRCm39) |
D256E |
probably damaging |
Het |
| Adnp |
G |
A |
2: 168,026,716 (GRCm39) |
A193V |
possibly damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,059,699 (GRCm39) |
L413S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,928 (GRCm39) |
N252S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,449,811 (GRCm39) |
N904K |
probably damaging |
Het |
| Draxin |
T |
C |
4: 148,192,394 (GRCm39) |
E306G |
probably damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,132,680 (GRCm39) |
F9L |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,933,409 (GRCm39) |
I506F |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,285 (GRCm39) |
T301A |
probably damaging |
Het |
| Or8k20 |
T |
C |
2: 86,106,612 (GRCm39) |
N73S |
probably damaging |
Het |
| Plekhg6 |
C |
G |
6: 125,349,455 (GRCm39) |
E381Q |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,413 (GRCm39) |
I1322V |
possibly damaging |
Het |
| Psmc3 |
T |
C |
2: 90,886,380 (GRCm39) |
I179T |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,810,185 (GRCm39) |
D295G |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,171 (GRCm39) |
V88A |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r232 |
C |
A |
17: 21,133,705 (GRCm39) |
L298F |
possibly damaging |
Het |
| Zfp629 |
C |
A |
7: 127,209,274 (GRCm39) |
C845F |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTGAACTCAACTCCATAGGTCA -3'
(R):5'- AGTCTCCATGCCAGCCATAGTAACA -3'
Sequencing Primer
(F):5'- gcttcttgttcctttcatcttctatc -3'
(R):5'- AGCCATAGTAACAGTGGCAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation