Mutagenetix > Incidental Mutation

Incidental Mutation 'R5841:Cdyl'

450457

Institutional Source

Beutler Lab

Gene Symbol

Cdyl

Ensembl Gene

ENSMUSG00000059288

Gene Name

chromodomain protein, Y chromosome-like

Synonyms

MMRRC Submission

044061-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35843816-36058046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36056544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 509 (L509P)

Ref Sequence

ENSEMBL: ENSMUSP00000131784 (fasta)

Gene Model

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

AlphaFold

Q9WTK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075220
AA Change: L558P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074707
Gene: ENSMUSG00000059288
AA Change: L558P

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 damaging
Transcript: ENSMUST00000163595
AA Change: L509P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131784
Gene: ENSMUSG00000059288
AA Change: L509P

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

Meta Mutation Damage Score

0.9673

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (67/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,150,994 (GRCm39)	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596 (GRCm38)	V188D	probably benign	Het
Bbs12	T	G	3: 37,373,670 (GRCm39)	N39K	probably benign	Het
Bend5	A	G	4: 111,290,667 (GRCm39)	Y221C	probably damaging	Het
Brd8	A	G	18: 34,738,576 (GRCm39)	S683P	probably damaging	Het
Caskin1	A	G	17: 24,715,183 (GRCm39)	D79G	probably damaging	Het
Cenpf	G	T	1: 189,389,641 (GRCm39)	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,431,027 (GRCm39)	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,951,497 (GRCm39)	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,183,899 (GRCm39)	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,151,670 (GRCm39)	F181Y	probably damaging	Het
Dennd5b	T	C	6: 148,946,253 (GRCm39)	T453A	probably benign	Het
Dlgap3	A	G	4: 127,089,193 (GRCm39)	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dync2li1	G	A	17: 84,940,990 (GRCm39)	G69R	probably damaging	Het
Edc3	T	C	9: 57,651,885 (GRCm39)	V331A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ganc	C	T	2: 120,242,020 (GRCm39)	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,663,143 (GRCm39)	C179F	unknown	Het
Gnptg	A	G	17: 25,454,391 (GRCm39)	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,698,059 (GRCm39)	V349I	probably benign	Het
Hydin	T	C	8: 111,259,846 (GRCm39)	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,097,999 (GRCm39)	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,692,463 (GRCm39)	R13H	probably benign	Het
Klb	A	T	5: 65,536,667 (GRCm39)	K666*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kpna7	T	C	5: 144,930,766 (GRCm39)	I360V	possibly damaging	Het
Lmbrd2	A	G	15: 9,182,657 (GRCm39)	K576E	possibly damaging	Het
Lrp2	T	A	2: 69,310,497 (GRCm39)	Y2692F	probably benign	Het
Meis2	T	A	2: 115,889,145 (GRCm39)	E202D	probably benign	Het
Mgat4c	A	T	10: 102,224,826 (GRCm39)	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501 (GRCm39)	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,830,292 (GRCm39)	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Mycbpap	T	A	11: 94,396,436 (GRCm39)	R135W	probably damaging	Het
Myo1g	T	A	11: 6,457,000 (GRCm39)	Y942F	probably benign	Het
Myrf	T	C	19: 10,200,911 (GRCm39)	K52R	probably null	Het
Ncf2	A	T	1: 152,697,269 (GRCm39)		silent	Het
Nherf2	A	T	17: 24,863,851 (GRCm39)	M8K	probably benign	Het
Or51f1e	T	C	7: 102,747,161 (GRCm39)	F71S	probably damaging	Het
Otx1	T	C	11: 21,948,594 (GRCm39)		probably benign	Het
Pcnx1	T	A	12: 81,965,429 (GRCm39)	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,383,096 (GRCm39)	L305P	probably damaging	Het
Pira13	T	A	7: 3,825,898 (GRCm39)	R324*	probably null	Het
Polr3a	A	T	14: 24,500,766 (GRCm39)	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,983 (GRCm39)	T644A	probably benign	Het
Pramel22	A	G	4: 143,382,109 (GRCm39)	S196P	possibly damaging	Het
Ptbp1	A	G	10: 79,695,766 (GRCm39)	D289G	probably benign	Het
Pwp2	A	G	10: 78,007,952 (GRCm39)	F868L	probably benign	Het
Rgs8	A	G	1: 153,568,574 (GRCm39)	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,493,180 (GRCm39)		probably benign	Het
Sbf1	T	C	15: 89,192,271 (GRCm39)	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728 (GRCm39)	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,016,547 (GRCm39)	Y349*	probably null	Het
Slc38a9	T	C	13: 112,831,856 (GRCm39)	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,951,509 (GRCm39)	M216K	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,299,614 (GRCm39)	N315S	probably benign	Het
Strc	A	G	2: 121,196,358 (GRCm39)	F1557L	probably benign	Het
Susd3	C	A	13: 49,392,202 (GRCm39)		probably benign	Het
Usp54	G	A	14: 20,600,351 (GRCm39)	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,114,787 (GRCm39)	N150K	probably damaging	Het
Vwa8	C	T	14: 79,231,958 (GRCm39)	H606Y	probably benign	Het
Zmym6	A	G	4: 126,994,463 (GRCm39)	I206V	possibly damaging	Het

Other mutations in Cdyl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7764:Cdyl	UTSW	13	36,000,126 (GRCm39)	missense	possibly damaging	0.92
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'- CAGATACGCAGGGCTAACTG -3'
(R):5'- CCGCGGCAATAAATAGCTCG -3'

Sequencing Primer
(F):5'- AGGGCTAACTGTGCTAACCTG -3'
(R):5'- CGGCAATAAATAGCTCGGATGTTTCC -3'

Posted On

2016-12-20