Incidental Mutation 'IGL00981:Cdyl'
ID28901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdyl
Ensembl Gene ENSMUSG00000059288
Gene Namechromodomain protein, Y chromosome-like
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.481) question?
Stock #IGL00981
Quality Score
Status
Chromosome13
Chromosomal Location35659833-35874063 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35816113 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 126 (S126C)
Ref Sequence ENSEMBL: ENSMUSP00000074707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075220] [ENSMUST00000163595] [ENSMUST00000225602]
Predicted Effect probably damaging
Transcript: ENSMUST00000075220
AA Change: S126C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: S126C

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000163595
AA Change: S77C

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131784
Gene: ENSMUSG00000059288
AA Change: S77C

DomainStartEndE-ValueType
CHROMO 6 60 1.58e-19 SMART
low complexity region 67 80 N/A INTRINSIC
Pfam:ECH 291 539 4e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226071
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,772,990 L420Q probably damaging Het
4930503L19Rik G A 18: 70,453,333 Q478* probably null Het
Atp7b T C 8: 22,027,527 probably null Het
Bcan T A 3: 87,997,832 I2F possibly damaging Het
Boc A G 16: 44,491,801 S633P probably damaging Het
C2cd6 A G 1: 59,077,945 S130P probably damaging Het
Cacna1a T C 8: 84,548,553 F490L probably damaging Het
Carm1 T A 9: 21,587,194 D469E possibly damaging Het
Ceacam5 A T 7: 17,745,533 I192F probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dlgap5 C T 14: 47,398,468 E515K probably damaging Het
Eif3a A T 19: 60,766,611 D1044E unknown Het
Eif3i T A 4: 129,595,069 Y125F probably benign Het
Gnai1 T G 5: 18,267,047 N346T probably benign Het
Kcnd1 C T X: 7,836,433 T629I probably benign Het
Mcc A T 18: 44,449,349 N578K probably damaging Het
Ncoa6 C T 2: 155,406,179 R1735Q probably damaging Het
Nlrp4d A T 7: 10,382,094 noncoding transcript Het
Nsun5 A T 5: 135,375,395 Q352L possibly damaging Het
Olfr127 G A 17: 37,904,181 V212M probably benign Het
Olfr1537 A G 9: 39,237,605 V276A probably benign Het
Olfr715b T A 7: 107,106,062 K266N probably benign Het
Olfr715b C A 7: 107,106,061 E267* probably null Het
Pkdrej C T 15: 85,819,656 G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,940,530 probably benign Het
Spink1 C T 18: 43,737,094 probably null Het
Sqle T C 15: 59,326,619 V464A probably damaging Het
Trav6-4 A T 14: 53,454,696 T84S probably damaging Het
Trim33 T A 3: 103,351,995 probably benign Het
Txlng T C X: 162,784,372 M319V probably benign Het
Wee1 A T 7: 110,139,669 E582D probably damaging Het
Other mutations in Cdyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Cdyl APN 13 35790162 missense possibly damaging 0.90
IGL01911:Cdyl APN 13 35863243 missense probably damaging 0.97
IGL02584:Cdyl APN 13 35683786 missense probably benign
IGL02754:Cdyl APN 13 35683742 splice site probably benign
R1630:Cdyl UTSW 13 35683803 missense possibly damaging 0.66
R1678:Cdyl UTSW 13 35856889 missense probably damaging 0.99
R1802:Cdyl UTSW 13 35872636 nonsense probably null
R4435:Cdyl UTSW 13 35858250 critical splice donor site probably null
R5841:Cdyl UTSW 13 35872561 missense probably damaging 1.00
R5860:Cdyl UTSW 13 35858083 missense possibly damaging 0.73
R6430:Cdyl UTSW 13 35871606 missense possibly damaging 0.74
R7127:Cdyl UTSW 13 35856668 missense probably benign 0.01
R7296:Cdyl UTSW 13 35863395 missense probably damaging 1.00
R7369:Cdyl UTSW 13 35816009 missense probably damaging 1.00
R7422:Cdyl UTSW 13 35858194 missense possibly damaging 0.90
R7635:Cdyl UTSW 13 35871651 missense probably damaging 1.00
R7756:Cdyl UTSW 13 35872641 missense probably damaging 1.00
R7758:Cdyl UTSW 13 35872641 missense probably damaging 1.00
R7764:Cdyl UTSW 13 35816143 missense possibly damaging 0.92
R8221:Cdyl UTSW 13 35816164 missense probably benign 0.00
R8820:Cdyl UTSW 13 35858191 missense probably damaging 1.00
Z1176:Cdyl UTSW 13 35815966 missense probably damaging 1.00
Z1177:Cdyl UTSW 13 35816070 missense probably benign 0.21
Posted On2013-04-17