Incidental Mutation 'R4435:Cdyl'
| ID |
329497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdyl
|
| Ensembl Gene |
ENSMUSG00000059288 |
| Gene Name |
chromodomain protein, Y chromosome-like |
| Synonyms |
|
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.577)
|
| Stock # |
R4435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
35843816-36058046 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 36042233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075220]
[ENSMUST00000163595]
|
| AlphaFold |
Q9WTK2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075220
|
| SMART Domains |
Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGTGCTCTTGACCGCTTG -3'
(R):5'- AGCTTAAGCCATCCCTGAATTC -3'
Sequencing Primer
(F):5'- ACCTGTGGTGACTTCCAGG -3'
(R):5'- CCCTGAATTCTGTGATAGATGCAAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation