Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Cdyl2'

515274

Institutional Source

Beutler Lab

Gene Symbol

Cdyl2

Ensembl Gene

ENSMUSG00000031758

Gene Name

chromodomain protein, Y chromosome-like 2

Synonyms

1700029M19Rik, 4930453I21Rik

MMRRC Submission

044529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117301139-117459730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117309923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 344 (K344N)

Ref Sequence

ENSEMBL: ENSMUSP00000104730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109102]

AlphaFold

Q9D5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109102
AA Change: K344N

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

SMART Domains

Protein: ENSMUSP00000104730
Gene: ENSMUSG00000031758
AA Change: K344N

Domain	Start	End	E-Value	Type
CHROMO	6	60	1.25e-17	SMART
Pfam:ECH_1	252	499	5e-33	PFAM
Pfam:ECH_2	258	501	1.6e-14	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lfng	T	A	5: 140,600,151 (GRCm39)		probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or51a5	A	T	7: 102,771,136 (GRCm39)	F281Y	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 155,894,234 (GRCm39)	E274G	possibly damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,043,968 (GRCm39)	S221P	probably damaging	Het

Other mutations in Cdyl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Cdyl2	APN	8	117,321,928 (GRCm39)	splice site	probably benign
IGL01670:Cdyl2	APN	8	117,351,092 (GRCm39)	missense	probably damaging	1.00
IGL01964:Cdyl2	APN	8	117,350,768 (GRCm39)	missense	probably benign	0.00
IGL02148:Cdyl2	APN	8	117,315,983 (GRCm39)	splice site	probably benign
IGL02186:Cdyl2	APN	8	117,306,025 (GRCm39)	missense	possibly damaging	0.78
Allein	UTSW	8	117,305,935 (GRCm39)	missense	probably damaging	1.00
R0449:Cdyl2	UTSW	8	117,309,931 (GRCm39)	missense	probably damaging	1.00
R0630:Cdyl2	UTSW	8	117,350,774 (GRCm39)	missense	probably benign	0.03
R1430:Cdyl2	UTSW	8	117,306,056 (GRCm39)	splice site	probably benign
R1883:Cdyl2	UTSW	8	117,321,902 (GRCm39)	missense	probably damaging	1.00
R2326:Cdyl2	UTSW	8	117,350,537 (GRCm39)	missense	probably benign
R4194:Cdyl2	UTSW	8	117,305,903 (GRCm39)	splice site	probably null
R4916:Cdyl2	UTSW	8	117,305,926 (GRCm39)	missense	probably damaging	1.00
R4977:Cdyl2	UTSW	8	117,302,008 (GRCm39)	missense	probably damaging	0.99
R5092:Cdyl2	UTSW	8	117,350,679 (GRCm39)	missense	possibly damaging	0.50
R5320:Cdyl2	UTSW	8	117,321,794 (GRCm39)	nonsense	probably null
R5727:Cdyl2	UTSW	8	117,309,907 (GRCm39)	missense	probably damaging	1.00
R5830:Cdyl2	UTSW	8	117,321,823 (GRCm39)	missense	probably benign	0.23
R6077:Cdyl2	UTSW	8	117,316,129 (GRCm39)	missense	probably damaging	1.00
R6086:Cdyl2	UTSW	8	117,316,035 (GRCm39)	missense	probably damaging	1.00
R6145:Cdyl2	UTSW	8	117,321,717 (GRCm39)	missense	probably damaging	1.00
R7152:Cdyl2	UTSW	8	117,351,066 (GRCm39)	missense	probably damaging	1.00
R7193:Cdyl2	UTSW	8	117,350,733 (GRCm39)	missense	probably benign	0.09
R7244:Cdyl2	UTSW	8	117,301,999 (GRCm39)	nonsense	probably null
R7394:Cdyl2	UTSW	8	117,350,790 (GRCm39)	missense	not run
R7457:Cdyl2	UTSW	8	117,305,935 (GRCm39)	missense	probably damaging	1.00
R8770:Cdyl2	UTSW	8	117,321,822 (GRCm39)	missense	probably damaging	1.00
R9574:Cdyl2	UTSW	8	117,350,669 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCAGACCAAGCAAGAAGTTATGG -3'
(R):5'- AGAATCTGCCAGCTCTGTGC -3'

Sequencing Primer
(F):5'- GCAGGAGGCTTACCAGC -3'
(R):5'- CTCTGTGCTTCTGTGAGTAGGGC -3'

Posted On

2018-05-04