Incidental Mutation 'R7764:Cdyl'
ID 598141
Institutional Source Beutler Lab
Gene Symbol Cdyl
Ensembl Gene ENSMUSG00000059288
Gene Name chromodomain protein, Y chromosome-like
Synonyms
MMRRC Submission 045820-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R7764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 35843816-36058046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36000126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 136 (T136S)
Ref Sequence ENSEMBL: ENSMUSP00000074707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075220] [ENSMUST00000163595] [ENSMUST00000225602]
AlphaFold Q9WTK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000075220
AA Change: T136S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: T136S

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: T87S

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131784
Gene: ENSMUSG00000059288
AA Change: T87S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T G 16: 20,368,040 (GRCm39) L93V probably benign Het
Adss2 A C 1: 177,591,827 (GRCm39) M452R probably damaging Het
Aldh3b1 T A 19: 3,971,563 (GRCm39) K102* probably null Het
Ccdc162 A T 10: 41,566,109 (GRCm39) V78D possibly damaging Het
Ccr3 T C 9: 123,829,451 (GRCm39) V262A probably benign Het
Cdk13 A T 13: 17,895,890 (GRCm39) probably null Het
Chd2 T C 7: 73,121,567 (GRCm39) D1015G probably null Het
Cntn2 C A 1: 132,450,101 (GRCm39) A598S probably benign Het
Cxxc4 G T 3: 133,945,856 (GRCm39) G146C unknown Het
Dnah2 G A 11: 69,348,984 (GRCm39) T2501I probably benign Het
Dock8 T A 19: 25,074,899 (GRCm39) I471N probably benign Het
Eaf2 A G 16: 36,645,045 (GRCm39) V59A probably damaging Het
Egflam T A 15: 7,347,736 (GRCm39) I65F probably damaging Het
Exoc3l A G 8: 106,017,333 (GRCm39) V577A possibly damaging Het
Folh1 A T 7: 86,412,126 (GRCm39) M215K probably benign Het
Fosb T C 7: 19,038,971 (GRCm39) D271G possibly damaging Het
Frmd4b A G 6: 97,272,891 (GRCm39) Y834H probably damaging Het
Fsip2 T C 2: 82,811,252 (GRCm39) S2524P possibly damaging Het
Gbp3 A G 3: 142,271,024 (GRCm39) T143A probably benign Het
Grk2 A T 19: 4,337,391 (GRCm39) L632Q probably damaging Het
Hars1 A T 18: 36,903,237 (GRCm39) D364E probably damaging Het
Hsd17b4 G T 18: 50,279,482 (GRCm39) G154* probably null Het
Kif5c T C 2: 49,617,973 (GRCm39) probably null Het
Kif5c T C 2: 49,639,339 (GRCm39) L800P probably damaging Het
Krt19 T C 11: 100,032,218 (GRCm39) N282S probably benign Het
Med23 T G 10: 24,785,818 (GRCm39) probably null Het
Meltf A G 16: 31,699,085 (GRCm39) Q65R probably benign Het
Mms22l T C 4: 24,598,842 (GRCm39) S1106P probably damaging Het
Mprip A G 11: 59,655,242 (GRCm39) T733A probably damaging Het
Mul1 G A 4: 138,162,080 (GRCm39) G4S possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk G T 16: 34,742,553 (GRCm39) V1022L probably benign Het
Ncald G T 15: 37,397,454 (GRCm39) N75K probably damaging Het
Nfib A G 4: 82,238,731 (GRCm39) S492P possibly damaging Het
Notch2 A T 3: 98,050,304 (GRCm39) I1860F probably damaging Het
Or9i14 A G 19: 13,792,111 (GRCm39) I281T probably benign Het
Oxr1 T C 15: 41,683,263 (GRCm39) S298P probably benign Het
Pcnt T C 10: 76,190,082 (GRCm39) D2818G probably benign Het
Pmpcb G A 5: 21,948,450 (GRCm39) A244T probably damaging Het
Poln A G 5: 34,274,151 (GRCm39) probably null Het
Polr1a G A 6: 71,930,054 (GRCm39) V914M probably damaging Het
Rab15 A C 12: 76,851,215 (GRCm39) probably null Het
Rasgrf1 G T 9: 89,876,747 (GRCm39) S704I possibly damaging Het
Rsf1 GGCGGCGG GGCGGCGGGCGCGGCGG 7: 97,229,134 (GRCm39) probably benign Het
Sart1 C A 19: 5,438,613 (GRCm39) G15W probably damaging Het
Scrib T C 15: 75,919,242 (GRCm39) *1666W probably null Het
Setd1b G C 5: 123,284,622 (GRCm39) R184P unknown Het
Sfxn2 A T 19: 46,574,179 (GRCm39) N123I probably damaging Het
Slc22a3 A G 17: 12,677,383 (GRCm39) W262R probably damaging Het
Slc38a10 A G 11: 119,995,905 (GRCm39) L1064P probably damaging Het
Sorcs2 A T 5: 36,181,416 (GRCm39) S1077R possibly damaging Het
Them7 G T 2: 105,128,171 (GRCm39) E51* probably null Het
Ubc A G 5: 125,465,133 (GRCm39) S65P possibly damaging Het
Ubqln3 A T 7: 103,790,443 (GRCm39) M549K possibly damaging Het
Vmn1r222 A G 13: 23,416,529 (GRCm39) L228P probably damaging Het
Vmn2r60 A G 7: 41,844,535 (GRCm39) T633A probably damaging Het
Zfp382 T C 7: 29,832,700 (GRCm39) V117A probably benign Het
Zic1 C T 9: 91,247,745 (GRCm39) probably benign Het
Zmym4 A T 4: 126,819,409 (GRCm39) F165I probably benign Het
Other mutations in Cdyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Cdyl APN 13 36,000,096 (GRCm39) missense probably damaging 0.98
IGL01547:Cdyl APN 13 35,974,145 (GRCm39) missense possibly damaging 0.90
IGL01911:Cdyl APN 13 36,047,226 (GRCm39) missense probably damaging 0.97
IGL02584:Cdyl APN 13 35,867,769 (GRCm39) missense probably benign
IGL02754:Cdyl APN 13 35,867,725 (GRCm39) splice site probably benign
R1630:Cdyl UTSW 13 35,867,786 (GRCm39) missense possibly damaging 0.66
R1678:Cdyl UTSW 13 36,040,872 (GRCm39) missense probably damaging 0.99
R1802:Cdyl UTSW 13 36,056,619 (GRCm39) nonsense probably null
R4435:Cdyl UTSW 13 36,042,233 (GRCm39) critical splice donor site probably null
R5841:Cdyl UTSW 13 36,056,544 (GRCm39) missense probably damaging 1.00
R5860:Cdyl UTSW 13 36,042,066 (GRCm39) missense possibly damaging 0.73
R6430:Cdyl UTSW 13 36,055,589 (GRCm39) missense possibly damaging 0.74
R7127:Cdyl UTSW 13 36,040,651 (GRCm39) missense probably benign 0.01
R7296:Cdyl UTSW 13 36,047,378 (GRCm39) missense probably damaging 1.00
R7369:Cdyl UTSW 13 35,999,992 (GRCm39) missense probably damaging 1.00
R7422:Cdyl UTSW 13 36,042,177 (GRCm39) missense possibly damaging 0.90
R7635:Cdyl UTSW 13 36,055,634 (GRCm39) missense probably damaging 1.00
R7756:Cdyl UTSW 13 36,056,624 (GRCm39) missense probably damaging 1.00
R7758:Cdyl UTSW 13 36,056,624 (GRCm39) missense probably damaging 1.00
R8221:Cdyl UTSW 13 36,000,147 (GRCm39) missense probably benign 0.00
R8820:Cdyl UTSW 13 36,042,174 (GRCm39) missense probably damaging 1.00
R9277:Cdyl UTSW 13 36,042,222 (GRCm39) missense probably benign
R9550:Cdyl UTSW 13 36,000,147 (GRCm39) missense probably benign 0.00
Z1176:Cdyl UTSW 13 35,999,949 (GRCm39) missense probably damaging 1.00
Z1177:Cdyl UTSW 13 36,000,053 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- CAGAATATCTGGTGCGGTGG -3'
(R):5'- CTGAAAGCCATCAACCGAGGTC -3'

Sequencing Primer
(F):5'- ATATCTGGTGCGGTGGAAAGGC -3'
(R):5'- GCTCTTAGGCACGAGAATTTTGATCC -3'
Posted On 2019-11-26