Incidental Mutation 'IGL00981:Cdyl'
| ID |
28901 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdyl
|
| Ensembl Gene |
ENSMUSG00000059288 |
| Gene Name |
chromodomain protein, Y chromosome-like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.550)
|
| Stock # |
IGL00981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
35843816-36058046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36000096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 126
(S126C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075220]
[ENSMUST00000163595]
[ENSMUST00000225602]
|
| AlphaFold |
Q9WTK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075220
AA Change: S126C
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: S126C
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
55 |
109 |
2.06e-18 |
SMART |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
Pfam:ECH_1
|
342 |
593 |
1.8e-35 |
PFAM |
|
Pfam:ECH_2
|
348 |
592 |
6e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163595
AA Change: S77C
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131784
Gene: ENSMUSG00000059288
AA Change: S77C
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
6 |
60 |
1.58e-19 |
SMART |
|
low complexity region
|
67 |
80 |
N/A |
INTRINSIC |
|
Pfam:ECH
|
291 |
539 |
4e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226071
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Conditional homozygous knockout in the cerebral cortex affects neuronal migration and results in increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,586,404 (GRCm39) |
Q478* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,447 (GRCm39) |
L420Q |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,517,543 (GRCm39) |
|
probably null |
Het |
| Bcan |
T |
A |
3: 87,905,139 (GRCm39) |
I2F |
possibly damaging |
Het |
| Boc |
A |
G |
16: 44,312,164 (GRCm39) |
S633P |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,117,104 (GRCm39) |
S130P |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,275,182 (GRCm39) |
F490L |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,490 (GRCm39) |
D469E |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,458 (GRCm39) |
I192F |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,635,925 (GRCm39) |
E515K |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,049 (GRCm39) |
D1044E |
unknown |
Het |
| Eif3i |
T |
A |
4: 129,488,862 (GRCm39) |
Y125F |
probably benign |
Het |
| Gnai1 |
T |
G |
5: 18,472,045 (GRCm39) |
N346T |
probably benign |
Het |
| Kcnd1 |
C |
T |
X: 7,702,672 (GRCm39) |
T629I |
probably benign |
Het |
| Mcc |
A |
T |
18: 44,582,416 (GRCm39) |
N578K |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,248,099 (GRCm39) |
R1735Q |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,116,021 (GRCm39) |
|
noncoding transcript |
Het |
| Nsun5 |
A |
T |
5: 135,404,249 (GRCm39) |
Q352L |
possibly damaging |
Het |
| Or14j6 |
G |
A |
17: 38,215,072 (GRCm39) |
V212M |
probably benign |
Het |
| Or2d2b |
C |
A |
7: 106,705,268 (GRCm39) |
E267* |
probably null |
Het |
| Or2d2b |
T |
A |
7: 106,705,269 (GRCm39) |
K266N |
probably benign |
Het |
| Or8g18 |
A |
G |
9: 39,148,901 (GRCm39) |
V276A |
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,703,857 (GRCm39) |
G693D |
probably damaging |
Het |
| Rpl10a-ps2 |
A |
T |
13: 8,990,566 (GRCm39) |
|
probably benign |
Het |
| Spink1 |
C |
T |
18: 43,870,159 (GRCm39) |
|
probably null |
Het |
| Sqle |
T |
C |
15: 59,198,468 (GRCm39) |
V464A |
probably damaging |
Het |
| Trav6-4 |
A |
T |
14: 53,692,153 (GRCm39) |
T84S |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,259,311 (GRCm39) |
|
probably benign |
Het |
| Txlng |
T |
C |
X: 161,567,368 (GRCm39) |
M319V |
probably benign |
Het |
| Wee1 |
A |
T |
7: 109,738,876 (GRCm39) |
E582D |
probably damaging |
Het |
|
| Other mutations in Cdyl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01547:Cdyl
|
APN |
13 |
35,974,145 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01911:Cdyl
|
APN |
13 |
36,047,226 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02584:Cdyl
|
APN |
13 |
35,867,769 (GRCm39) |
missense |
probably benign |
|
|
IGL02754:Cdyl
|
APN |
13 |
35,867,725 (GRCm39) |
splice site |
probably benign |
|
|
R1630:Cdyl
|
UTSW |
13 |
35,867,786 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1678:Cdyl
|
UTSW |
13 |
36,040,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1802:Cdyl
|
UTSW |
13 |
36,056,619 (GRCm39) |
nonsense |
probably null |
|
|
R4435:Cdyl
|
UTSW |
13 |
36,042,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5841:Cdyl
|
UTSW |
13 |
36,056,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Cdyl
|
UTSW |
13 |
36,042,066 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6430:Cdyl
|
UTSW |
13 |
36,055,589 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7127:Cdyl
|
UTSW |
13 |
36,040,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7296:Cdyl
|
UTSW |
13 |
36,047,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Cdyl
|
UTSW |
13 |
35,999,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Cdyl
|
UTSW |
13 |
36,042,177 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7635:Cdyl
|
UTSW |
13 |
36,055,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Cdyl
|
UTSW |
13 |
36,056,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Cdyl
|
UTSW |
13 |
36,056,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7764:Cdyl
|
UTSW |
13 |
36,000,126 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8221:Cdyl
|
UTSW |
13 |
36,000,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8820:Cdyl
|
UTSW |
13 |
36,042,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Cdyl
|
UTSW |
13 |
36,042,222 (GRCm39) |
missense |
probably benign |
|
|
R9550:Cdyl
|
UTSW |
13 |
36,000,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cdyl
|
UTSW |
13 |
35,999,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdyl
|
UTSW |
13 |
36,000,053 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2013-04-17 |
Incidental Mutation