Incidental Mutation 'R0968:Cylc2'
ID |
83941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cylc2
|
Ensembl Gene |
ENSMUSG00000039555 |
Gene Name |
cylicin, basic protein of sperm head cytoskeleton 2 |
Synonyms |
4930488P18Rik |
MMRRC Submission |
039097-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R0968 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
51216678-51250622 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 51216706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041392]
[ENSMUST00000166749]
|
AlphaFold |
A0A571BEE2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041392
AA Change: M1V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000039750 Gene: ENSMUSG00000039555 AA Change: M1V
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 null
Transcript: ENSMUST00000166749
AA Change: M1V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000125758 Gene: ENSMUSG00000039555 AA Change: M1V
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 |
|
Meta Mutation Damage Score |
0.8538 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
94% (34/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,772,967 (GRCm39) |
V719M |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,248,016 (GRCm39) |
S2588G |
probably benign |
Het |
Acaca |
C |
T |
11: 84,129,859 (GRCm39) |
Q405* |
probably null |
Het |
Brms1l |
G |
A |
12: 55,912,798 (GRCm39) |
D264N |
possibly damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,272,202 (GRCm39) |
M254V |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
C |
16: 4,487,919 (GRCm39) |
|
probably benign |
Het |
Cyp3a11 |
G |
A |
5: 145,799,324 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
C |
T |
5: 124,906,641 (GRCm39) |
T4224M |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,339,345 (GRCm39) |
E3054G |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,847,388 (GRCm39) |
|
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
Fgf12 |
T |
C |
16: 27,981,185 (GRCm39) |
N177S |
probably null |
Het |
Flt3 |
C |
T |
5: 147,278,037 (GRCm39) |
V846I |
possibly damaging |
Het |
Gm11569 |
A |
T |
11: 99,689,250 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
A |
C |
4: 96,650,303 (GRCm39) |
V181G |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Lars1 |
C |
A |
18: 42,351,648 (GRCm39) |
R852L |
probably benign |
Het |
Lca5 |
T |
C |
9: 83,305,222 (GRCm39) |
T195A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,742,426 (GRCm39) |
D14N |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,395,487 (GRCm39) |
S327P |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,249 (GRCm39) |
F397L |
probably damaging |
Het |
Mtus2 |
T |
C |
5: 148,014,994 (GRCm39) |
S596P |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
Nadsyn1 |
T |
C |
7: 143,359,770 (GRCm39) |
T401A |
probably benign |
Het |
Pde6a |
A |
T |
18: 61,386,809 (GRCm39) |
E395D |
probably damaging |
Het |
Plekhm2 |
A |
G |
4: 141,357,243 (GRCm39) |
V743A |
probably benign |
Het |
Pzp |
A |
T |
6: 128,502,108 (GRCm39) |
D80E |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,415,575 (GRCm39) |
C1846S |
probably benign |
Het |
Shbg |
A |
G |
11: 69,508,014 (GRCm39) |
L117P |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,615,821 (GRCm39) |
|
probably benign |
Het |
Vcpip1 |
A |
T |
1: 9,816,604 (GRCm39) |
I593N |
probably damaging |
Het |
|
Other mutations in Cylc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Cylc2
|
APN |
4 |
51,228,157 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
|
Posted On |
2013-11-08 |