Incidental Mutation 'R6430:Cdyl'
ID |
518497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdyl
|
Ensembl Gene |
ENSMUSG00000059288 |
Gene Name |
chromodomain protein, Y chromosome-like |
Synonyms |
|
MMRRC Submission |
044568-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.577)
|
Stock # |
R6430 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
35843816-36058046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36055589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 503
(K503R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075220]
[ENSMUST00000163595]
|
AlphaFold |
Q9WTK2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075220
AA Change: K503R
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000074707 Gene: ENSMUSG00000059288 AA Change: K503R
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
AA Change: K454R
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000131784 Gene: ENSMUSG00000059288 AA Change: K454R
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 |
|
Meta Mutation Damage Score |
0.5367 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGTGACCACTAGAGGATATG -3'
(R):5'- GGGAACACATTGGAACACGC -3'
Sequencing Primer
(F):5'- CACTAGAGGATATGAGGTAGACCCCC -3'
(R):5'- CCAGTCTAACTTAATCTCTGTGGAGG -3'
|
Posted On |
2018-05-24 |