Incidental Mutation 'R5727:Hyls1'
ID |
452559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyls1
|
Ensembl Gene |
ENSMUSG00000050555 |
Gene Name |
HYLS1, centriolar and ciliogenesis associated |
Synonyms |
hydrolethalus syndrome 1, 3010015K02Rik |
MMRRC Submission |
043190-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.333)
|
Stock # |
R5727 (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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
C |
A |
14: 29,712,838 (GRCm39) |
L494M |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,994,111 (GRCm39) |
A5132S |
probably damaging |
Het |
Cadps |
G |
A |
14: 12,486,525 (GRCm38) |
Q882* |
probably null |
Het |
Cdhr2 |
G |
A |
13: 54,872,121 (GRCm39) |
V662M |
possibly damaging |
Het |
Cdyl2 |
T |
A |
8: 117,309,907 (GRCm39) |
I350F |
probably damaging |
Het |
Cfap44 |
T |
G |
16: 44,255,805 (GRCm39) |
F966V |
probably damaging |
Het |
Cpxm1 |
G |
A |
2: 130,232,883 (GRCm39) |
R704* |
probably null |
Het |
Dnah11 |
A |
T |
12: 118,090,841 (GRCm39) |
F1034L |
probably damaging |
Het |
Dpep2 |
A |
G |
8: 106,713,075 (GRCm39) |
V440A |
probably benign |
Het |
Ehmt2 |
A |
T |
17: 35,125,008 (GRCm39) |
M11L |
possibly damaging |
Het |
Eml2 |
C |
T |
7: 18,924,685 (GRCm39) |
H185Y |
probably damaging |
Het |
Gm10845 |
T |
A |
14: 80,100,770 (GRCm39) |
|
noncoding transcript |
Het |
Gm8122 |
T |
G |
14: 43,091,477 (GRCm39) |
N97T |
unknown |
Het |
Gnb1 |
A |
G |
4: 155,639,559 (GRCm39) |
T263A |
probably benign |
Het |
Ier5l |
A |
G |
2: 30,363,171 (GRCm39) |
C285R |
possibly damaging |
Het |
Kif21b |
A |
G |
1: 136,097,747 (GRCm39) |
N1336D |
probably damaging |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lama1 |
A |
G |
17: 68,122,219 (GRCm39) |
H2722R |
possibly damaging |
Het |
Mdm2 |
A |
G |
10: 117,538,212 (GRCm39) |
M13T |
possibly damaging |
Het |
Micall1 |
T |
A |
15: 79,014,678 (GRCm39) |
Y685N |
possibly damaging |
Het |
Mthfd1l |
T |
G |
10: 4,053,302 (GRCm39) |
S884A |
possibly damaging |
Het |
Nkiras2 |
A |
G |
11: 100,515,853 (GRCm39) |
Y60C |
probably damaging |
Het |
Oc90 |
T |
G |
15: 65,753,388 (GRCm39) |
R342S |
possibly damaging |
Het |
Or11h23 |
C |
A |
14: 50,947,817 (GRCm39) |
T10K |
possibly damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,544 (GRCm39) |
L162P |
possibly damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,197 (GRCm39) |
R172* |
probably null |
Het |
Or4p20 |
T |
A |
2: 88,253,791 (GRCm39) |
I193F |
probably benign |
Het |
Or9s13 |
A |
G |
1: 92,547,900 (GRCm39) |
N91D |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp9 |
G |
T |
16: 35,784,467 (GRCm39) |
E507* |
probably null |
Het |
Pex13 |
A |
G |
11: 23,605,705 (GRCm39) |
I175T |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,914,370 (GRCm39) |
E604G |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,251,815 (GRCm39) |
|
probably null |
Het |
Rragc |
T |
C |
4: 123,813,828 (GRCm39) |
Y141H |
possibly damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,280 (GRCm39) |
V257A |
probably benign |
Het |
Snx5 |
T |
C |
2: 144,102,674 (GRCm39) |
T80A |
probably benign |
Het |
Sorcs2 |
G |
A |
5: 36,188,630 (GRCm39) |
A826V |
possibly damaging |
Het |
Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
Tmem161b |
T |
A |
13: 84,434,909 (GRCm39) |
S302R |
possibly damaging |
Het |
Ube2o |
A |
T |
11: 116,430,496 (GRCm39) |
F1081I |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,608 (GRCm39) |
I658V |
probably benign |
Het |
Vwa3b |
T |
G |
1: 37,174,600 (GRCm39) |
L672V |
probably benign |
Het |
Wscd2 |
T |
C |
5: 113,715,411 (GRCm39) |
F417S |
possibly 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 |
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'- CCCTCACAATTGCTGTATTTGAG -3'
(R):5'- GCGGTTTCCTGGTGAAGATC -3'
Sequencing Primer
(F):5'- TCTGCCTGCTTTTCAAGG -3'
(R):5'- AAGGAGTTACGCTGGAGTGTCC -3'
|
Posted On |
2017-01-03 |