Incidental Mutation 'IGL03273:Cdin1'
| ID |
415319 |
| 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 # |
IGL03273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
115412197-115609249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115462472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 68
(Y68C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110918]
[ENSMUST00000166472]
|
| AlphaFold |
Q3U4G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110918
AA Change: Y68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: Y68C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPD
|
131 |
270 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147968
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166472
AA Change: Y68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: Y68C
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,411,356 (GRCm39) |
I102F |
probably damaging |
Het |
| Aldoart1 |
T |
C |
4: 72,770,346 (GRCm39) |
K154R |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,479,666 (GRCm39) |
K349E |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,103,484 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,696,033 (GRCm39) |
N130S |
probably damaging |
Het |
| Dnah5 |
T |
G |
15: 28,458,795 (GRCm39) |
F4477L |
probably damaging |
Het |
| Fbln7 |
A |
T |
2: 128,737,390 (GRCm39) |
T402S |
probably benign |
Het |
| Frem2 |
A |
C |
3: 53,444,930 (GRCm39) |
Y2400* |
probably null |
Het |
| Gm11937 |
C |
T |
11: 99,500,627 (GRCm39) |
|
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,098 (GRCm39) |
D127G |
probably benign |
Het |
| Hrh3 |
T |
A |
2: 179,742,441 (GRCm39) |
T396S |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,130,719 (GRCm39) |
N512D |
probably damaging |
Het |
| Mysm1 |
A |
C |
4: 94,853,955 (GRCm39) |
S215A |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,032,905 (GRCm39) |
D556E |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,001 (GRCm39) |
K363N |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,130 (GRCm39) |
S1374R |
probably damaging |
Het |
| Samt2b |
A |
T |
X: 153,122,697 (GRCm39) |
F114L |
probably benign |
Het |
| Slitrk2 |
T |
C |
X: 65,697,602 (GRCm39) |
I31T |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,017,599 (GRCm39) |
N42S |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,180,574 (GRCm39) |
L600P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,949,547 (GRCm39) |
S1692G |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,128,576 (GRCm39) |
V534L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,494 (GRCm39) |
K607E |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
|
| Other mutations in Cdin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Cdin1
|
APN |
2 |
115,607,466 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation