Incidental Mutation 'IGL02979:Hyls1'
| ID |
406481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hyls1
|
| Ensembl Gene |
ENSMUSG00000050555 |
| Gene Name |
HYLS1, centriolar and ciliogenesis associated |
| Synonyms |
hydrolethalus syndrome 1, 3010015K02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
IGL02979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
35472117-35481365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35472970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 149
(F149I)
|
| 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: F149I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555
AA Change: F149I
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,104,408 (GRCm39) |
N412K |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,837,929 (GRCm39) |
T1646A |
probably benign |
Het |
| C8b |
T |
A |
4: 104,631,585 (GRCm39) |
S67T |
probably damaging |
Het |
| Cemip |
T |
A |
7: 83,652,514 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,808,090 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Chtop |
A |
G |
3: 90,407,402 (GRCm39) |
I161T |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,248,038 (GRCm39) |
V1529A |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,075,140 (GRCm39) |
V388A |
possibly damaging |
Het |
| Dzank1 |
A |
G |
2: 144,330,658 (GRCm39) |
F466L |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,726,973 (GRCm39) |
D428G |
probably damaging |
Het |
| Fam20c |
C |
T |
5: 138,743,620 (GRCm39) |
P219S |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 65,027,146 (GRCm39) |
Q1486L |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,928,940 (GRCm39) |
V274A |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,225,788 (GRCm39) |
V322A |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,819 (GRCm39) |
F28L |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,388,736 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
G |
A |
7: 3,633,598 (GRCm39) |
|
probably benign |
Het |
| Rock2 |
C |
A |
12: 17,027,941 (GRCm39) |
T1391K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,119,091 (GRCm39) |
I769V |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,988,190 (GRCm39) |
T416A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,661,347 (GRCm39) |
L600F |
probably damaging |
Het |
| Ttll5 |
A |
G |
12: 85,873,356 (GRCm39) |
E11G |
probably damaging |
Het |
| Uox |
A |
T |
3: 146,316,246 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
T |
C |
9: 74,086,838 (GRCm39) |
I602T |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation