Incidental Mutation 'IGL01547:Cdyl'
| ID |
90357 |
| 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 # |
IGL01547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
35843816-36058046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35974145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 53
(D53G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075220]
[ENSMUST00000163595]
[ENSMUST00000225602]
|
| AlphaFold |
Q9WTK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075220
AA Change: D53G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: D53G
| 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 |
probably benign
Transcript: ENSMUST00000163595
|
| SMART Domains |
Protein: ENSMUSP00000131784
Gene: ENSMUSG00000059288
| 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 |
possibly damaging
Transcript: ENSMUST00000225602
AA Change: D53G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,182,573 (GRCm39) |
G243R |
possibly damaging |
Het |
| Afg3l1 |
T |
C |
8: 124,228,090 (GRCm39) |
V625A |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,622,015 (GRCm39) |
|
probably benign |
Het |
| Bag1 |
A |
G |
4: 40,936,661 (GRCm39) |
C332R |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,079,315 (GRCm39) |
Y49H |
probably damaging |
Het |
| Cacna1b |
C |
A |
2: 24,522,047 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,747,013 (GRCm39) |
I1322V |
probably benign |
Het |
| Evc2 |
C |
A |
5: 37,550,431 (GRCm39) |
A815E |
probably benign |
Het |
| Gm6309 |
C |
T |
5: 146,105,221 (GRCm39) |
D231N |
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,233,345 (GRCm39) |
P305S |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,079 (GRCm39) |
N170D |
possibly damaging |
Het |
| Or51k1 |
A |
T |
7: 103,661,867 (GRCm39) |
I14N |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,197 (GRCm39) |
I231F |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,395 (GRCm39) |
H782R |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,635,768 (GRCm39) |
S480P |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,310 (GRCm39) |
T1085A |
probably benign |
Het |
| Sema6c |
C |
T |
3: 95,079,709 (GRCm39) |
R668C |
probably damaging |
Het |
| Tas2r123 |
C |
T |
6: 132,824,421 (GRCm39) |
T106I |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,879,683 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,383 (GRCm39) |
I97N |
possibly damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,525 (GRCm39) |
K644N |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,027,521 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cdyl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Cdyl
|
APN |
13 |
36,000,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2013-12-03 |
Incidental Mutation