Incidental Mutation 'R2326:Cdyl2'
| ID |
244919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdyl2
|
| Ensembl Gene |
ENSMUSG00000031758 |
| Gene Name |
chromodomain protein, Y chromosome-like 2 |
| Synonyms |
1700029M19Rik, 4930453I21Rik |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117301139-117459730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117350537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109102]
|
| AlphaFold |
Q9D5D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109102
AA Change: V198A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104730
Gene: ENSMUSG00000031758
AA Change: V198A
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
6 |
60 |
1.25e-17 |
SMART |
|
Pfam:ECH_1
|
252 |
499 |
5e-33 |
PFAM |
|
Pfam:ECH_2
|
258 |
501 |
1.6e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly damaging |
Het |
|
| Other mutations in Cdyl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Cdyl2
|
APN |
8 |
117,321,928 (GRCm39) |
splice site |
probably benign |
|
|
IGL01670:Cdyl2
|
APN |
8 |
117,351,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01964:Cdyl2
|
APN |
8 |
117,350,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02148:Cdyl2
|
APN |
8 |
117,315,983 (GRCm39) |
splice site |
probably benign |
|
|
IGL02186:Cdyl2
|
APN |
8 |
117,306,025 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Allein
|
UTSW |
8 |
117,305,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Cdyl2
|
UTSW |
8 |
117,309,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Cdyl2
|
UTSW |
8 |
117,350,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1430:Cdyl2
|
UTSW |
8 |
117,306,056 (GRCm39) |
splice site |
probably benign |
|
|
R1883:Cdyl2
|
UTSW |
8 |
117,321,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Cdyl2
|
UTSW |
8 |
117,305,903 (GRCm39) |
splice site |
probably null |
|
|
R4916:Cdyl2
|
UTSW |
8 |
117,305,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Cdyl2
|
UTSW |
8 |
117,302,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5092:Cdyl2
|
UTSW |
8 |
117,350,679 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5320:Cdyl2
|
UTSW |
8 |
117,321,794 (GRCm39) |
nonsense |
probably null |
|
|
R5727:Cdyl2
|
UTSW |
8 |
117,309,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5830:Cdyl2
|
UTSW |
8 |
117,321,823 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6077:Cdyl2
|
UTSW |
8 |
117,316,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Cdyl2
|
UTSW |
8 |
117,316,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Cdyl2
|
UTSW |
8 |
117,321,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Cdyl2
|
UTSW |
8 |
117,309,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Cdyl2
|
UTSW |
8 |
117,351,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7193:Cdyl2
|
UTSW |
8 |
117,350,733 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7244:Cdyl2
|
UTSW |
8 |
117,301,999 (GRCm39) |
nonsense |
probably null |
|
|
R7394:Cdyl2
|
UTSW |
8 |
117,350,790 (GRCm39) |
missense |
not run |
|
|
R7457:Cdyl2
|
UTSW |
8 |
117,305,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Cdyl2
|
UTSW |
8 |
117,321,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Cdyl2
|
UTSW |
8 |
117,350,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGGTTGAAAGAAAAGTCAGACC -3'
(R):5'- CAGATCATGCCCCTGAAGAAGG -3'
Sequencing Primer
(F):5'- TGAGTAGAGTCCTTACCCAGCATG -3'
(R):5'- ATGCCCCTGAAGAAGGCTCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation