Incidental Mutation 'IGL02221:Cdin1'
ID 285164
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) question?
Stock # IGL02221
Quality Score
Status
Chromosome 2
Chromosomal Location 115412197-115609249 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 115469547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110918] [ENSMUST00000166472]
AlphaFold Q3U4G0
Predicted Effect probably null
Transcript: ENSMUST00000110918
SMART Domains Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282

DomainStartEndE-ValueType
Pfam:TPD 131 270 1.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157981
Predicted Effect probably null
Transcript: ENSMUST00000166472
SMART Domains Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,907 (GRCm39) I24M probably benign Het
Ano5 G A 7: 51,220,071 (GRCm39) D390N probably damaging Het
Atp2c2 A G 8: 120,471,073 (GRCm39) Y407C probably damaging Het
B430306N03Rik T C 17: 48,631,223 (GRCm39) probably benign Het
Cd44 A T 2: 102,676,858 (GRCm39) M269K probably benign Het
Cpped1 G T 16: 11,646,392 (GRCm39) P144Q probably damaging Het
Epas1 C T 17: 87,135,275 (GRCm39) T636M possibly damaging Het
Hsd17b3 G T 13: 64,236,865 (GRCm39) H26Q probably benign Het
Ighv8-9 A G 12: 115,431,947 (GRCm39) probably benign Het
Itih1 A T 14: 30,651,544 (GRCm39) C883S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lcn3 A T 2: 25,656,172 (GRCm39) M76L probably benign Het
Lin9 A T 1: 180,478,399 (GRCm39) M53L probably benign Het
Mast1 A G 8: 85,645,384 (GRCm39) V687A possibly damaging Het
Mmd2 C T 5: 142,555,212 (GRCm39) probably benign Het
Mroh2b T C 15: 4,953,123 (GRCm39) L619S probably damaging Het
Ngef T C 1: 87,468,418 (GRCm39) T114A probably benign Het
Nlrp12 T C 7: 3,289,597 (GRCm39) D305G possibly damaging Het
Nlrp1a A T 11: 71,013,944 (GRCm39) F435L possibly damaging Het
Nup188 A G 2: 30,220,653 (GRCm39) I909V possibly damaging Het
Osbpl3 A C 6: 50,304,347 (GRCm39) probably benign Het
P2ry2 G T 7: 100,647,321 (GRCm39) P328H possibly damaging Het
Prex2 A T 1: 11,131,569 (GRCm39) N46I probably benign Het
Prss42 T C 9: 110,632,243 (GRCm39) F325L possibly damaging Het
Reep5 A G 18: 34,482,850 (GRCm39) F120L probably damaging Het
Scg3 G T 9: 75,590,939 (GRCm39) F23L probably damaging Het
Scx A G 15: 76,343,295 (GRCm39) D200G probably benign Het
Setd5 C T 6: 113,098,131 (GRCm39) probably benign Het
Tcf4 T A 18: 69,480,438 (GRCm39) S23R probably damaging Het
Ttc4 A G 4: 106,533,793 (GRCm39) probably null Het
Tyro3 T A 2: 119,643,071 (GRCm39) C627S probably benign Het
Yipf2 T C 9: 21,502,764 (GRCm39) N106S possibly damaging Het
Zfp619 T C 7: 39,186,334 (GRCm39) L788P probably benign Het
Zfp831 G A 2: 174,485,519 (GRCm39) V65I probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign Het
Other mutations in Cdin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Cdin1 APN 2 115,607,466 (GRCm39) missense possibly damaging 0.63
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 2015-04-16