Incidental Mutation 'R3909:Hyls1'
ID |
309308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyls1
|
Ensembl Gene |
ENSMUSG00000050555 |
Gene Name |
HYLS1, centriolar and ciliogenesis associated |
Synonyms |
hydrolethalus syndrome 1, 3010015K02Rik |
MMRRC Submission |
040814-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.333)
|
Stock # |
R3909 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
35472117-35481365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35472705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
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: D237G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110762 Gene: ENSMUSG00000050555 AA Change: D237G
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
|
Meta Mutation Damage Score |
0.1615 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (35/35) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,625,125 (GRCm39) |
F501Y |
probably damaging |
Het |
Alk |
T |
C |
17: 72,204,906 (GRCm39) |
T1089A |
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,291,000 (GRCm39) |
P1478T |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,636,088 (GRCm39) |
V49A |
probably benign |
Het |
Arid4b |
T |
C |
13: 14,307,069 (GRCm39) |
L108P |
probably damaging |
Het |
Atrn |
T |
A |
2: 130,836,127 (GRCm39) |
C1136S |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,970 (GRCm39) |
S446P |
probably damaging |
Het |
Cngb3 |
G |
A |
4: 19,461,679 (GRCm39) |
C520Y |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,588,668 (GRCm39) |
|
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,806,802 (GRCm39) |
P71S |
possibly damaging |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
Golga4 |
A |
G |
9: 118,387,804 (GRCm39) |
D1642G |
possibly damaging |
Het |
Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,403,235 (GRCm39) |
T732M |
unknown |
Het |
Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,182 (GRCm39) |
T229S |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,357 (GRCm39) |
E291G |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,031 (GRCm39) |
F95L |
probably benign |
Het |
Or5w20 |
T |
A |
2: 87,727,293 (GRCm39) |
|
probably null |
Het |
Prps1l1 |
A |
T |
12: 35,035,797 (GRCm39) |
H304L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
Rlf |
G |
A |
4: 121,006,229 (GRCm39) |
T917I |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,466,953 (GRCm39) |
D4704G |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,104,332 (GRCm39) |
I1643F |
probably damaging |
Het |
Vmn2r38 |
T |
C |
7: 9,078,553 (GRCm39) |
K610E |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,255,806 (GRCm39) |
F1486L |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGAAGCTTCTTGGGCATG -3'
(R):5'- GGAATTTCACAAGAAGATCAGCTC -3'
Sequencing Primer
(F):5'- TTGGGCATGACACCATTTGCAAG -3'
(R):5'- TCACAAGAAGATCAGCTCATTTGC -3'
|
Posted On |
2015-04-17 |