Incidental Mutation 'R6270:Hyls1'
ID |
507278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hyls1
|
Ensembl Gene |
ENSMUSG00000050555 |
Gene Name |
HYLS1, centriolar and ciliogenesis associated |
Synonyms |
hydrolethalus syndrome 1, 3010015K02Rik |
MMRRC Submission |
044441-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R6270 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
98% (51/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,242,933 (GRCm39) |
E648G |
probably benign |
Het |
Ak7 |
A |
G |
12: 105,734,960 (GRCm39) |
H642R |
probably benign |
Het |
Akap11 |
T |
C |
14: 78,756,239 (GRCm39) |
E53G |
probably damaging |
Het |
Ark2n |
T |
C |
18: 77,762,117 (GRCm39) |
D65G |
probably damaging |
Het |
Ddr2 |
T |
G |
1: 169,816,109 (GRCm39) |
T533P |
probably benign |
Het |
Dhx40 |
A |
G |
11: 86,690,431 (GRCm39) |
S197P |
possibly damaging |
Het |
Dolpp1 |
C |
A |
2: 30,282,281 (GRCm39) |
|
probably benign |
Het |
Eng |
A |
G |
2: 32,563,655 (GRCm39) |
D347G |
probably benign |
Het |
Esrra |
C |
T |
19: 6,891,488 (GRCm39) |
|
probably null |
Het |
Fap |
T |
C |
2: 62,378,132 (GRCm39) |
I159V |
probably damaging |
Het |
Fn1 |
C |
T |
1: 71,676,434 (GRCm39) |
C599Y |
probably damaging |
Het |
Fnbp4 |
T |
C |
2: 90,587,807 (GRCm39) |
V395A |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,676 (GRCm39) |
R163G |
probably damaging |
Het |
Gphn |
T |
G |
12: 78,569,724 (GRCm39) |
L306R |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,295,902 (GRCm39) |
|
probably benign |
Het |
Habp2 |
A |
G |
19: 56,295,295 (GRCm39) |
D62G |
possibly damaging |
Het |
Hdac7 |
AGGG |
AGGGG |
15: 97,706,376 (GRCm39) |
|
probably null |
Het |
Kit |
A |
G |
5: 75,770,169 (GRCm39) |
T194A |
probably benign |
Het |
Krt16 |
C |
A |
11: 100,138,029 (GRCm39) |
A316S |
possibly damaging |
Het |
Krt7 |
A |
G |
15: 101,317,439 (GRCm39) |
D244G |
probably damaging |
Het |
Lhfpl3 |
T |
A |
5: 23,478,349 (GRCm39) |
Y77* |
probably null |
Het |
Lrrc18 |
A |
T |
14: 32,731,078 (GRCm39) |
M206L |
probably benign |
Het |
Magel2 |
C |
A |
7: 62,030,406 (GRCm39) |
C1103* |
probably null |
Het |
Mcf2l |
T |
C |
8: 13,068,701 (GRCm39) |
V1058A |
probably damaging |
Het |
Nbas |
G |
A |
12: 13,374,294 (GRCm39) |
A541T |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,308,630 (GRCm39) |
M1485I |
probably benign |
Het |
Nudt18 |
T |
C |
14: 70,816,830 (GRCm39) |
Y145H |
probably benign |
Het |
Or51b6b |
T |
C |
7: 103,309,620 (GRCm39) |
Y279C |
possibly damaging |
Het |
Or51f1d |
T |
C |
7: 102,700,538 (GRCm39) |
L11P |
probably benign |
Het |
Or5k8 |
A |
T |
16: 58,644,782 (GRCm39) |
C97S |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,569,838 (GRCm39) |
Q328L |
possibly damaging |
Het |
Pde6c |
T |
C |
19: 38,146,884 (GRCm39) |
W431R |
probably damaging |
Het |
Pga5 |
T |
C |
19: 10,652,225 (GRCm39) |
E139G |
probably benign |
Het |
Pkdrej |
G |
T |
15: 85,705,306 (GRCm39) |
S210* |
probably null |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Sema3d |
A |
T |
5: 12,498,074 (GRCm39) |
M27L |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,825,170 (GRCm39) |
S200P |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,568,452 (GRCm39) |
D174G |
probably damaging |
Het |
Sult1b1 |
A |
T |
5: 87,665,413 (GRCm39) |
|
probably null |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,725 (GRCm39) |
I342M |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,820,429 (GRCm39) |
T136M |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,352,773 (GRCm39) |
T1008A |
possibly damaging |
Het |
Tgif1 |
T |
C |
17: 71,151,861 (GRCm39) |
|
probably null |
Het |
Trav15-2-dv6-2 |
A |
G |
14: 53,887,323 (GRCm39) |
D81G |
probably benign |
Het |
Trpv5 |
T |
A |
6: 41,651,293 (GRCm39) |
H251L |
possibly damaging |
Het |
Ttc14 |
C |
A |
3: 33,854,537 (GRCm39) |
T37K |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,159 (GRCm39) |
I662L |
probably benign |
Het |
Vmn2r81 |
A |
G |
10: 79,129,649 (GRCm39) |
I847V |
probably benign |
Het |
Zfp474 |
A |
G |
18: 52,771,436 (GRCm39) |
T30A |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,957,580 (GRCm39) |
V163M |
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 |
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 |
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'- ATCCAAATTCCAGTAGTTTTCCACC -3'
(R):5'- AGGAGTTACGCTGGAGTGTC -3'
Sequencing Primer
(F):5'- CCCTCACAATTGCTGTATTTGAG -3'
(R):5'- TCCGAGGGCAAATGCTTTC -3'
|
Posted On |
2018-03-15 |