Incidental Mutation 'R8685:Hyls1'
| ID |
661989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyls1
|
| Ensembl Gene |
ENSMUSG00000050555 |
| Gene Name |
HYLS1, centriolar and ciliogenesis associated |
| Synonyms |
hydrolethalus syndrome 1, 3010015K02Rik |
| MMRRC Submission |
068540-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R8685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35472117-35481365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35472724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 231
(Y231H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034612]
[ENSMUST00000034615]
[ENSMUST00000115110]
[ENSMUST00000121246]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034612
|
| SMART Domains |
Protein: ENSMUSP00000034612
Gene: ENSMUSG00000032101
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
111 |
N/A |
INTRINSIC |
|
DEXDc
|
117 |
316 |
1.26e-41 |
SMART |
|
HELICc
|
353 |
440 |
6.18e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034615
|
| SMART Domains |
Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
46 |
N/A |
INTRINSIC |
|
Pfam:PseudoU_synth_1
|
68 |
190 |
6.8e-12 |
PFAM |
|
Pfam:PseudoU_synth_1
|
213 |
331 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115110
AA Change: Y231H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: Y231H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
Pfam:HYLS1_C
|
211 |
299 |
6.4e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121246
|
| SMART Domains |
Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
46 |
N/A |
INTRINSIC |
|
Pfam:PseudoU_synth_1
|
68 |
190 |
3e-12 |
PFAM |
|
Pfam:PseudoU_synth_1
|
213 |
316 |
1.5e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.8004 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,862,140 (GRCm39) |
Y50C |
probably damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,874,708 (GRCm39) |
D1002Y |
possibly damaging |
Het |
| Aoc3 |
G |
A |
11: 101,223,042 (GRCm39) |
R426H |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,869,320 (GRCm39) |
H179R |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,247,138 (GRCm39) |
T121A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,380,672 (GRCm39) |
Y1787C |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,746 (GRCm39) |
S104T |
possibly damaging |
Het |
| Cdh10 |
T |
A |
15: 18,899,851 (GRCm39) |
N59K |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,433,867 (GRCm39) |
R431H |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dcpp3 |
T |
C |
17: 24,138,096 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,687,161 (GRCm39) |
T1262A |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,881,628 (GRCm39) |
E900G |
possibly damaging |
Het |
| Dtx4 |
C |
T |
19: 12,446,995 (GRCm39) |
D566N |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,474,594 (GRCm39) |
N339K |
possibly damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,816 (GRCm39) |
R101S |
unknown |
Het |
| Hk1 |
T |
C |
10: 62,132,453 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,230,205 (GRCm39) |
S148T |
unknown |
Het |
| Il17rb |
T |
A |
14: 29,726,297 (GRCm39) |
Y97F |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,109,288 (GRCm39) |
T1168K |
probably benign |
Het |
| Larp6 |
A |
T |
9: 60,631,495 (GRCm39) |
D89V |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,745,520 (GRCm39) |
T1953A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,192,229 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,746,334 (GRCm39) |
D266G |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,036 (GRCm39) |
M22K |
probably benign |
Het |
| Niban2 |
T |
G |
2: 32,809,101 (GRCm39) |
L229R |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,410,904 (GRCm39) |
I215F |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,003 (GRCm39) |
V495E |
probably damaging |
Het |
| Per2 |
T |
G |
1: 91,378,402 (GRCm39) |
D49A |
possibly damaging |
Het |
| Plau |
G |
A |
14: 20,889,627 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
A |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Pnma8b |
T |
A |
7: 16,679,965 (GRCm39) |
D316E |
unknown |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,436 (GRCm39) |
Y597H |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,474,161 (GRCm39) |
V288A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,245,556 (GRCm39) |
V513A |
possibly damaging |
Het |
| Smarcd3 |
G |
A |
5: 24,800,988 (GRCm39) |
R140W |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,585,380 (GRCm39) |
R440G |
unknown |
Het |
| Tpsg1 |
A |
T |
17: 25,592,241 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Trbv26 |
C |
A |
6: 41,204,693 (GRCm39) |
A38E |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,198,401 (GRCm39) |
N1488K |
probably damaging |
Het |
| Vill |
A |
T |
9: 118,895,795 (GRCm39) |
R502S |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,584,754 (GRCm39) |
L861* |
probably null |
Het |
|
| Other mutations in Hyls1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Hyls1
|
APN |
9 |
35,473,220 (GRCm39) |
nonsense |
probably null |
|
|
IGL00964:Hyls1
|
APN |
9 |
35,473,408 (GRCm39) |
intron |
probably benign |
|
|
IGL01936:Hyls1
|
APN |
9 |
35,473,363 (GRCm39) |
missense |
probably benign |
|
|
IGL02979:Hyls1
|
APN |
9 |
35,472,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0519:Hyls1
|
UTSW |
9 |
35,472,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Hyls1
|
UTSW |
9 |
35,472,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2302:Hyls1
|
UTSW |
9 |
35,475,365 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3909:Hyls1
|
UTSW |
9 |
35,472,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4111:Hyls1
|
UTSW |
9 |
35,472,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4113:Hyls1
|
UTSW |
9 |
35,472,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5727:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5833:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5834:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5835:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6031:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6031:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6037:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6037:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6269:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6270:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6271:Hyls1
|
UTSW |
9 |
35,472,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9532:Hyls1
|
UTSW |
9 |
35,473,398 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAGGGCAGATCTTTTCTTCTC -3'
(R):5'- AAGGTACAGAATCCCCAGTTGTC -3'
Sequencing Primer
(F):5'- CTCAGTTGGCACCAGGTAATTG -3'
(R):5'- TTAACCTACCATGTGAATACCAAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation