Incidental Mutation 'IGL02584:Cdyl'
| ID |
299475 |
| 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: 0.577)
|
| Stock # |
IGL02584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
35843816-36058046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35867769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 15
(L15P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075220]
[ENSMUST00000225602]
|
| AlphaFold |
Q9WTK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075220
AA Change: L15P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: L15P
| 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: ENSMUST00000225602
AA Change: L15P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
| Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
| Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef6 |
T |
G |
X: 56,291,738 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,146 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
| Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
| Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
| Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,764,769 (GRCm39) |
L455H |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
| Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
| Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
| Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,744 (GRCm39) |
W109R |
probably damaging |
Het |
| Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
| Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
| Pdlim1 |
A |
G |
19: 40,231,844 (GRCm39) |
|
probably null |
Het |
| Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,736 (GRCm39) |
T709A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation