Mutagenetix > Incidental Mutations

Incidental Mutation 'R7127:Cdyl'

552414

Institutional Source

Beutler Lab

Gene Symbol

Cdyl

Ensembl Gene

ENSMUSG00000059288

Gene Name

chromodomain protein, Y chromosome-like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35659833-35874063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35856668 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 282 (S282T)

Ref Sequence

ENSEMBL: ENSMUSP00000074707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075220] [ENSMUST00000163595]

Predicted Effect

probably benign
Transcript: ENSMUST00000075220
AA Change: S282T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: S282T

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000163595
AA Change: S233T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131784
Gene: ENSMUSG00000059288
AA Change: S233T

Domain	Start	End	E-Value	Type
CHROMO	6	60	1.58e-19	SMART
low complexity region	67	80	N/A	INTRINSIC
Pfam:ECH	291	539	4e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,945	F830L	possibly damaging	Het
Abca15	C	T	7: 120,332,602	T26I	probably benign	Het
Adam5	A	T	8: 24,810,781	I244N	probably damaging	Het
Adam7	A	G	14: 68,514,769		probably null	Het
Aox4	T	A	1: 58,228,874	N204K	probably benign	Het
Arl13b	C	T	16: 62,801,739	G397D	probably damaging	Het
AU041133	T	C	10: 82,150,866	F118L	probably benign	Het
Brinp1	C	T	4: 68,793,023	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,436,330	V268I	probably benign	Het
Car15	T	C	16: 17,838,196		probably benign	Het
Ccdc185	G	T	1: 182,748,856	D89E	possibly damaging	Het
Cckar	T	A	5: 53,706,475	Y48F	probably damaging	Het
Clca1	T	C	3: 145,006,045	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,465,782	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,323,928	F24S	probably damaging	Het
Duox2	C	T	2: 122,291,949	G565D	probably benign	Het
Ehbp1	A	T	11: 22,053,529	Y1073*	probably null	Het
Epg5	A	T	18: 78,028,925	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,879,766	D594G	probably benign	Het
Flad1	A	G	3: 89,403,418	Y441H	probably damaging	Het
Fn1	T	C	1: 71,597,544	T2150A	probably benign	Het
Fnta	C	A	8: 26,007,203	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,931,165	M95L	probably benign	Het
Gbp8	A	T	5: 105,017,712	H358Q	probably benign	Het
Glipr1l3	C	A	10: 112,148,090	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,921,468	I94T	possibly damaging	Het
Hunk	A	G	16: 90,475,891	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,672,171	Y51*	probably null	Het
Kif26a	C	T	12: 112,178,145	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,324,315	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,812,963	V413A	probably damaging	Het
Med6	C	T	12: 81,589,000	R86Q	probably damaging	Het
Myrf	A	T	19: 10,215,341	S605T	probably benign	Het
Olfr792	T	A	10: 129,541,067	C177S	probably damaging	Het
Plk3	A	T	4: 117,130,570	V429E	probably benign	Het
Plrg1	C	T	3: 83,059,915	P131L	probably damaging	Het
Plscr4	C	T	9: 92,490,778	R318*	probably null	Het
Rab34	A	T	11: 78,191,230	K152*	probably null	Het
Rasef	A	T	4: 73,744,132	S194T	probably damaging	Het
Rcc1	A	G	4: 132,334,796	S269P	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scin	A	G	12: 40,105,072	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,597,470	M1V	probably null	Het
Smok3c	A	T	5: 138,064,709	I153F	probably damaging	Het
Spen	G	A	4: 141,476,108	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,449,512	M155K	probably benign	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sun2	T	C	15: 79,727,899	I528M	probably benign	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Taok2	G	T	7: 126,867,154	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,434,805	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,054,959	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,860,260	L696H	probably damaging	Het
Trank1	T	G	9: 111,365,796	S963A	possibly damaging	Het
Trf	A	G	9: 103,225,127	V184A	probably benign	Het
Ttll13	T	A	7: 80,253,658	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,951,574	T41P	probably benign	Het
Zfhx4	A	G	3: 5,413,044	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,475,429	H540Y	probably damaging	Het

Other mutations in Cdyl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cdyl	APN	13	35816113	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTTGACCACCAGATAAGC -3'
(R):5'- AAGATGTGGGTGAAGCCATC -3'

Sequencing Primer
(F):5'- CCACCAGATAAGCAAAGCTGTGG -3'
(R):5'- CCTGACGACAATATCTCTGTATCTG -3'

Posted On

2019-05-15