Incidental Mutation 'R5833:Hyls1'
| ID |
449409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hyls1
|
| Ensembl Gene |
ENSMUSG00000050555 |
| Gene Name |
HYLS1, centriolar and ciliogenesis associated |
| Synonyms |
hydrolethalus syndrome 1, 3010015K02Rik |
| MMRRC Submission |
043221-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R5833 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35472117-35481365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35472480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 312
(S312F)
|
| 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 benign
Transcript: ENSMUST00000115110
AA Change: S312F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: S312F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135768
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 95.7%
- 20x: 84.6%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
T |
C |
5: 9,008,314 (GRCm39) |
Y1161H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,886,722 (GRCm39) |
M276L |
probably benign |
Het |
| Adi1 |
A |
G |
12: 28,731,041 (GRCm39) |
D166G |
probably benign |
Het |
| Arhgap44 |
T |
G |
11: 64,929,503 (GRCm39) |
E267A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,511 (GRCm39) |
L107Q |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,716 (GRCm39) |
D247G |
probably benign |
Het |
| C4b |
T |
C |
17: 34,949,647 (GRCm39) |
D1481G |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,245,326 (GRCm39) |
F242L |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,922 (GRCm39) |
K298E |
probably benign |
Het |
| Dcaf5 |
A |
G |
12: 80,395,203 (GRCm39) |
V322A |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,832,265 (GRCm39) |
N175S |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,744,379 (GRCm39) |
M21K |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,729,838 (GRCm39) |
D55G |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,318 (GRCm39) |
M75T |
possibly damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,128 (GRCm39) |
S262P |
probably damaging |
Het |
| Gpnmb |
T |
C |
6: 49,020,952 (GRCm39) |
L82P |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Itpripl2 |
A |
C |
7: 118,089,194 (GRCm39) |
V455G |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,549,287 (GRCm39) |
V1087A |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,172,647 (GRCm39) |
D1801G |
possibly damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,495,875 (GRCm39) |
Y570* |
probably null |
Het |
| Osbpl1a |
G |
T |
18: 12,921,419 (GRCm39) |
N128K |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,155 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,989 (GRCm39) |
F214Y |
probably damaging |
Het |
| Qki |
A |
T |
17: 10,435,316 (GRCm39) |
L236H |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,380,171 (GRCm39) |
D220E |
probably benign |
Het |
| Rras |
A |
G |
7: 44,670,715 (GRCm39) |
E195G |
possibly damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,339,352 (GRCm39) |
M430K |
possibly damaging |
Het |
| Tardbp |
A |
C |
4: 148,702,117 (GRCm39) |
V86G |
probably damaging |
Het |
| Trim43c |
A |
G |
9: 88,725,090 (GRCm39) |
Q203R |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,913 (GRCm39) |
L229P |
probably damaging |
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 |
|
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 |
|
R8685:Hyls1
|
UTSW |
9 |
35,472,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Hyls1
|
UTSW |
9 |
35,473,398 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCACAATTGCTGTATTTGAG -3'
(R):5'- AATGCGGTTTCCTGGTGAAG -3'
Sequencing Primer
(F):5'- TCTGCCTGCTTTTCAAGG -3'
(R):5'- AAGGAGTTACGCTGGAGTGTCC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation