Incidental Mutation 'R4464:Cylc2'
| ID |
330265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cylc2
|
| Ensembl Gene |
ENSMUSG00000039555 |
| Gene Name |
cylicin, basic protein of sperm head cytoskeleton 2 |
| Synonyms |
4930488P18Rik |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
51216678-51250622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 51229651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 331
(T331R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041392]
[ENSMUST00000166749]
|
| AlphaFold |
A0A571BEE2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000041392
AA Change: T331R
|
| SMART Domains |
Protein: ENSMUSP00000039750
Gene: ENSMUSG00000039555
AA Change: T331R
| 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 |
unknown
Transcript: ENSMUST00000166749
AA Change: T331R
|
| SMART Domains |
Protein: ENSMUSP00000125758
Gene: ENSMUSG00000039555
AA Change: T331R
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
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 |
|
|
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 |
PCR Primer
(F):5'- TCAGCCACAGAATCTGGAGG -3'
(R):5'- TTGAACCAAGACCTACTTCTCC -3'
Sequencing Primer
(F):5'- ATCTGGAGGTGAAAAGGCTGGTTC -3'
(R):5'- AACCAAGACCTACTTCTCCTACTTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation