Incidental Mutation 'IGL00476:Cylc2'
ID |
332174 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cylc2
|
Ensembl Gene |
ENSMUSG00000039555 |
Gene Name |
cylicin, basic protein of sperm head cytoskeleton 2 |
Synonyms |
4930488P18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL00476
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
51216678-51250622 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51228157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 76
(M76T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041392]
[ENSMUST00000166749]
|
AlphaFold |
A0A571BEE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041392
AA Change: M76T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039750 Gene: ENSMUSG00000039555 AA Change: M76T
Domain | Start | End | E-Value | Type |
Pfam:Cylicin_N
|
7 |
115 |
1.1e-43 |
PFAM |
low complexity region
|
122 |
131 |
N/A |
INTRINSIC |
low complexity region
|
174 |
220 |
N/A |
INTRINSIC |
low complexity region
|
224 |
245 |
N/A |
INTRINSIC |
low complexity region
|
249 |
272 |
N/A |
INTRINSIC |
low complexity region
|
278 |
300 |
N/A |
INTRINSIC |
low complexity region
|
312 |
329 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156384
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166749
AA Change: M76T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125758 Gene: ENSMUSG00000039555 AA Change: M76T
Domain | Start | End | E-Value | Type |
Pfam:Cylicin_N
|
8 |
113 |
4.6e-46 |
PFAM |
low complexity region
|
122 |
131 |
N/A |
INTRINSIC |
low complexity region
|
174 |
220 |
N/A |
INTRINSIC |
low complexity region
|
224 |
245 |
N/A |
INTRINSIC |
low complexity region
|
249 |
272 |
N/A |
INTRINSIC |
low complexity region
|
278 |
300 |
N/A |
INTRINSIC |
low complexity region
|
312 |
329 |
N/A |
INTRINSIC |
low complexity region
|
338 |
420 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
Other mutations in Cylc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01669:Cylc2
|
APN |
4 |
51,228,360 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02662:Cylc2
|
APN |
4 |
51,216,698 (GRCm39) |
utr 5 prime |
probably benign |
|
R0277:Cylc2
|
UTSW |
4 |
51,228,477 (GRCm39) |
missense |
unknown |
|
R0323:Cylc2
|
UTSW |
4 |
51,228,477 (GRCm39) |
missense |
unknown |
|
R0968:Cylc2
|
UTSW |
4 |
51,216,706 (GRCm39) |
start codon destroyed |
probably null |
0.50 |
R1395:Cylc2
|
UTSW |
4 |
51,228,366 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1639:Cylc2
|
UTSW |
4 |
51,228,310 (GRCm39) |
missense |
probably benign |
0.23 |
R1643:Cylc2
|
UTSW |
4 |
51,225,173 (GRCm39) |
missense |
probably benign |
0.38 |
R2829:Cylc2
|
UTSW |
4 |
51,229,798 (GRCm39) |
missense |
unknown |
|
R4464:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R4467:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R4496:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R4505:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R4514:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R4546:Cylc2
|
UTSW |
4 |
51,229,840 (GRCm39) |
missense |
unknown |
|
R4546:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R4654:Cylc2
|
UTSW |
4 |
51,228,279 (GRCm39) |
missense |
probably benign |
0.00 |
R4949:Cylc2
|
UTSW |
4 |
51,229,804 (GRCm39) |
missense |
unknown |
|
R5141:Cylc2
|
UTSW |
4 |
51,228,587 (GRCm39) |
intron |
probably benign |
|
R5176:Cylc2
|
UTSW |
4 |
51,228,587 (GRCm39) |
intron |
probably benign |
|
R5177:Cylc2
|
UTSW |
4 |
51,228,587 (GRCm39) |
intron |
probably benign |
|
R5179:Cylc2
|
UTSW |
4 |
51,228,587 (GRCm39) |
intron |
probably benign |
|
R7469:Cylc2
|
UTSW |
4 |
51,227,970 (GRCm39) |
splice site |
probably null |
|
R7508:Cylc2
|
UTSW |
4 |
51,229,256 (GRCm39) |
splice site |
probably null |
|
R7699:Cylc2
|
UTSW |
4 |
51,229,335 (GRCm39) |
missense |
unknown |
|
R8685:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R8686:Cylc2
|
UTSW |
4 |
51,229,651 (GRCm39) |
missense |
unknown |
|
R8951:Cylc2
|
UTSW |
4 |
51,229,469 (GRCm39) |
missense |
unknown |
|
R9801:Cylc2
|
UTSW |
4 |
51,228,466 (GRCm39) |
missense |
probably null |
|
|
Posted On |
2015-08-05 |