Incidental Mutation 'R5179:Cylc2'
| ID |
399367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cylc2
|
| Ensembl Gene |
ENSMUSG00000039555 |
| Gene Name |
cylicin, basic protein of sperm head cytoskeleton 2 |
| Synonyms |
4930488P18Rik |
| MMRRC Submission |
042759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R5179 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
51216678-51250622 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 51228587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041392]
[ENSMUST00000166749]
|
| AlphaFold |
A0A571BEE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041392
|
| SMART Domains |
Protein: ENSMUSP00000039750
Gene: ENSMUSG00000039555
| 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 benign
Transcript: ENSMUST00000166749
|
| SMART Domains |
Protein: ENSMUSP00000125758
Gene: ENSMUSG00000039555
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
| Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
| Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
| Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
| Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
| Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
| Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
| Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
| Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- TCCAAGGGATTCACAAAAGGAC -3'
(R):5'- GGCTTCCTTCTTGGATCCAG -3'
Sequencing Primer
(F):5'- TCACAAAAGGACAAGGGAAGAGTATC -3'
(R):5'- TCCAGATTCAGAGGCTGAGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation