Incidental Mutation 'IGL00660:Cdin1'
| ID |
9236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdin1
|
| Ensembl Gene |
ENSMUSG00000040282 |
| Gene Name |
CDAN1 interacting nuclease 1 |
| Synonyms |
BC052040 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
115412197-115609249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115607466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 273
(A273V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110918]
[ENSMUST00000166472]
|
| AlphaFold |
Q3U4G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110918
AA Change: A267V
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: A267V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD
|
131 |
270 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166472
AA Change: A273V
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: A273V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD
|
132 |
275 |
2.2e-53 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
A |
13: 94,527,371 (GRCm39) |
V67D |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,782,774 (GRCm39) |
K91R |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,002,780 (GRCm39) |
|
probably null |
Het |
| Dbt |
T |
C |
3: 116,339,944 (GRCm39) |
I404T |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,075,797 (GRCm39) |
M3023I |
probably damaging |
Het |
| E130308A19Rik |
C |
T |
4: 59,737,743 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,499,069 (GRCm39) |
L291Q |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,245,530 (GRCm39) |
K239E |
possibly damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,761,954 (GRCm39) |
N160D |
probably benign |
Het |
| Prelid3b |
T |
C |
2: 174,307,598 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,288,456 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,382,136 (GRCm39) |
I204V |
probably benign |
Het |
| Zfp93 |
G |
T |
7: 23,975,117 (GRCm39) |
K367N |
probably damaging |
Het |
|
| Other mutations in Cdin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02221:Cdin1
|
APN |
2 |
115,469,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02486:Cdin1
|
APN |
2 |
115,607,487 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03273:Cdin1
|
APN |
2 |
115,462,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0350:Cdin1
|
UTSW |
2 |
115,607,411 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0499:Cdin1
|
UTSW |
2 |
115,473,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Cdin1
|
UTSW |
2 |
115,469,494 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1829:Cdin1
|
UTSW |
2 |
115,473,173 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4736:Cdin1
|
UTSW |
2 |
115,412,369 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4876:Cdin1
|
UTSW |
2 |
115,500,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Cdin1
|
UTSW |
2 |
115,500,568 (GRCm39) |
splice site |
probably null |
|
|
R6786:Cdin1
|
UTSW |
2 |
115,462,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6834:Cdin1
|
UTSW |
2 |
115,505,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6838:Cdin1
|
UTSW |
2 |
115,607,471 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8893:Cdin1
|
UTSW |
2 |
115,505,265 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9047:Cdin1
|
UTSW |
2 |
115,607,504 (GRCm39) |
missense |
probably benign |
|
|
R9787:Cdin1
|
UTSW |
2 |
115,505,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Cdin1
|
UTSW |
2 |
115,461,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation