Incidental Mutation 'IGL01669:Cylc2'
| ID |
103419 |
| 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 # |
IGL01669
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
51216678-51250622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51228360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 144
(T144A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041392]
[ENSMUST00000166749]
|
| AlphaFold |
A0A571BEE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041392
AA Change: T144A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000039750
Gene: ENSMUSG00000039555
AA Change: T144A
| 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
AA Change: T144A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125758
Gene: ENSMUSG00000039555
AA Change: T144A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
| Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
| Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
| Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
| Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
| Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
| Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
| Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
| Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
| Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
| Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
| Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
| Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
| Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
| Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
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 |
|
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 |
2014-01-21 |
Incidental Mutation