Mutagenetix > Incidental Mutation

Incidental Mutation 'R5796:Zmym3'

447259

Institutional Source

Beutler Lab

Gene Symbol

Zmym3

Ensembl Gene

ENSMUSG00000031310

Gene Name

zinc finger, MYM-type 3

Synonyms

9030216B10Rik, Zfp261, DXS6673El, DXHXS6673E, DXS6673E

MMRRC Submission

043387-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R5796 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

100447990-100464455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100459406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 308 (P308L)

Ref Sequence

ENSEMBL: ENSMUSP00000112399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063577] [ENSMUST00000117637] [ENSMUST00000117901] [ENSMUST00000118092] [ENSMUST00000119699] [ENSMUST00000120107] [ENSMUST00000120201] [ENSMUST00000121429] [ENSMUST00000121520] [ENSMUST00000134005]

AlphaFold

Q9JLM4

Predicted Effect

silent
Transcript: ENSMUST00000063577

SMART Domains

Protein: ENSMUSP00000068197
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
TRASH	313	349	1.08e-4	SMART
TRASH	355	395	1.29e-2	SMART
TRASH	411	446	8.24e-1	SMART
TRASH	453	494	1.24e-4	SMART
TRASH	500	538	1.06e-3	SMART
TRASH	548	584	2.12e-3	SMART
TRASH	593	629	1.24e-4	SMART
TRASH	635	670	1.1e-1	SMART
TRASH	681	716	2.69e-5	SMART
TRASH	722	757	2.28e-3	SMART
low complexity region	813	828	N/A	INTRINSIC
low complexity region	865	879	N/A	INTRINSIC
low complexity region	930	947	N/A	INTRINSIC
low complexity region	1046	1056	N/A	INTRINSIC
Pfam:DUF3504	1186	1353	4.5e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117637
AA Change: P308L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113462
Gene: ENSMUSG00000031310
AA Change: P308L

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	281	304	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000117901

SMART Domains

Protein: ENSMUSP00000112497
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
TRASH	313	349	1.08e-4	SMART
TRASH	355	395	1.29e-2	SMART
TRASH	411	446	8.24e-1	SMART
TRASH	453	494	1.24e-4	SMART
TRASH	500	538	1.06e-3	SMART
TRASH	548	584	2.12e-3	SMART
TRASH	593	629	1.24e-4	SMART
TRASH	635	670	1.1e-1	SMART
TRASH	681	716	2.69e-5	SMART
TRASH	722	757	2.28e-3	SMART
low complexity region	813	828	N/A	INTRINSIC
low complexity region	865	879	N/A	INTRINSIC
low complexity region	930	947	N/A	INTRINSIC
low complexity region	1046	1056	N/A	INTRINSIC
Pfam:DUF3504	1160	1262	4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118092
AA Change: P308L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112399
Gene: ENSMUSG00000031310
AA Change: P308L

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	281	304	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000119699

SMART Domains

Protein: ENSMUSP00000112475
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	283	296	N/A	INTRINSIC
TRASH	311	347	1.08e-4	SMART
TRASH	353	393	1.29e-2	SMART
TRASH	409	444	8.24e-1	SMART
TRASH	451	492	2.44e-3	SMART

Predicted Effect

silent
Transcript: ENSMUST00000120107

SMART Domains

Protein: ENSMUSP00000113049
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	283	296	N/A	INTRINSIC
TRASH	311	347	1.08e-4	SMART
TRASH	353	393	1.29e-2	SMART
TRASH	409	444	8.24e-1	SMART
TRASH	451	492	1.24e-4	SMART
TRASH	498	536	1.06e-3	SMART
TRASH	546	582	2.12e-3	SMART
TRASH	591	627	1.24e-4	SMART
TRASH	633	668	1.1e-1	SMART
TRASH	679	714	2.69e-5	SMART
TRASH	720	755	2.28e-3	SMART
low complexity region	799	814	N/A	INTRINSIC
low complexity region	851	865	N/A	INTRINSIC
low complexity region	916	933	N/A	INTRINSIC
low complexity region	1032	1042	N/A	INTRINSIC
Pfam:DUF3504	1170	1340	3e-72	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000120201

SMART Domains

Protein: ENSMUSP00000114005
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
TRASH	313	349	1.08e-4	SMART
TRASH	355	395	1.29e-2	SMART
TRASH	411	446	8.24e-1	SMART
TRASH	453	494	2.44e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141895

Predicted Effect

silent
Transcript: ENSMUST00000121429

SMART Domains

Protein: ENSMUSP00000114118
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
TRASH	313	349	1.08e-4	SMART
TRASH	355	395	1.29e-2	SMART
TRASH	411	446	8.24e-1	SMART
TRASH	453	494	2.44e-3	SMART

Predicted Effect

silent
Transcript: ENSMUST00000121520

SMART Domains

Protein: ENSMUSP00000113225
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
low complexity region	80	87	N/A	INTRINSIC
low complexity region	126	147	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
low complexity region	283	296	N/A	INTRINSIC
TRASH	311	347	1.08e-4	SMART
TRASH	353	393	1.29e-2	SMART
TRASH	409	444	8.24e-1	SMART
TRASH	451	492	1.24e-4	SMART
TRASH	498	536	1.06e-3	SMART
TRASH	546	582	2.12e-3	SMART
TRASH	591	627	1.24e-4	SMART
TRASH	633	668	1.1e-1	SMART
TRASH	679	714	2.69e-5	SMART
TRASH	720	755	2.28e-3	SMART
low complexity region	811	826	N/A	INTRINSIC
low complexity region	863	877	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC
low complexity region	1044	1054	N/A	INTRINSIC
Pfam:DUF3504	1182	1352	3e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143159

Predicted Effect

probably benign
Transcript: ENSMUST00000134005

SMART Domains

Protein: ENSMUSP00000118986
Gene: ENSMUSG00000031310

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

93% (51/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked mental retardation. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,215,077 (GRCm39)	T9A	possibly damaging	Het
Abcd3	G	A	3: 121,578,147 (GRCm39)	R160W	probably damaging	Het
Ap3d1	G	T	10: 80,549,871 (GRCm39)	T758K	possibly damaging	Het
Ate1	T	C	7: 130,068,998 (GRCm39)	Y423C	probably damaging	Het
Bsn	C	T	9: 108,003,223 (GRCm39)	G394D	probably damaging	Het
Cacna1d	T	C	14: 29,788,073 (GRCm39)	D1599G	probably damaging	Het
Cd33	A	G	7: 43,182,480 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,064,101 (GRCm39)	T81A	probably null	Het
Col12a1	T	C	9: 79,611,111 (GRCm39)	N154D	possibly damaging	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,716,517 (GRCm39)	Y40N	probably damaging	Het
Cyfip2	T	C	11: 46,089,823 (GRCm39)	N1197D	probably benign	Het
Dclre1b	G	A	3: 103,714,773 (GRCm39)	Q77*	probably null	Het
Dsc3	T	A	18: 20,104,558 (GRCm39)	M590L	probably benign	Het
Efcab14	A	T	4: 115,603,780 (GRCm39)	I153F	probably damaging	Het
Fbxo42	T	C	4: 140,927,100 (GRCm39)	V460A	probably benign	Het
Fgl1	T	G	8: 41,652,796 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,272,782 (GRCm39)	S1697P	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm15056	C	A	8: 21,391,998 (GRCm39)		probably benign	Het
Gm17409	T	A	2: 58,361,034 (GRCm39)		probably benign	Het
Gm20730	A	G	6: 43,058,464 (GRCm39)	L116P	probably damaging	Het
Grb2	T	G	11: 115,536,698 (GRCm39)	H184P	probably benign	Het
Hepacam2	G	C	6: 3,466,200 (GRCm39)		probably null	Het
Hsd3b9	A	T	3: 98,354,168 (GRCm39)	D110E	probably benign	Het
Igkv4-55	T	A	6: 69,584,432 (GRCm39)	K60M	possibly damaging	Het
Itfg1	T	A	8: 86,445,522 (GRCm39)	H603L	probably damaging	Het
Katna1	C	A	10: 7,636,575 (GRCm39)	D366E	probably damaging	Het
Klk1b26	A	G	7: 43,665,752 (GRCm39)	Y188C	probably damaging	Het
Ldhd	T	C	8: 112,353,722 (GRCm39)	T464A	probably benign	Het
Muc5b	T	C	7: 141,411,133 (GRCm39)	S1360P	unknown	Het
Nckipsd	T	G	9: 108,688,813 (GRCm39)	V116G	probably benign	Het
Nhsl1	C	T	10: 18,399,998 (GRCm39)	S374L	probably benign	Het
Oxt	G	A	2: 130,418,533 (GRCm39)	G48D	probably damaging	Het
Pramel21	A	G	4: 143,341,778 (GRCm39)	N69S	probably benign	Het
Ptprk	C	T	10: 28,259,571 (GRCm39)	T337I	probably damaging	Het
Rad54b	A	T	4: 11,615,446 (GRCm39)	D818V	probably benign	Het
Rbpjl	T	C	2: 164,252,168 (GRCm39)		probably benign	Het
Recql5	T	A	11: 115,818,691 (GRCm39)		probably benign	Het
Robo4	A	T	9: 37,322,970 (GRCm39)	D830V	probably benign	Het
Rps6kb1	C	T	11: 86,402,677 (GRCm39)	G339S	probably benign	Het
Rtel1	G	A	2: 180,982,299 (GRCm39)	E350K	probably benign	Het
Rtn3	A	G	19: 7,434,832 (GRCm39)	S368P	possibly damaging	Het
Smad5	A	G	13: 56,871,645 (GRCm39)	H80R	probably damaging	Het
Sppl2c	T	A	11: 104,078,619 (GRCm39)	M473K	probably benign	Het
Tbrg1	A	G	9: 37,563,871 (GRCm39)		probably benign	Het
Tcf7	A	G	11: 52,152,354 (GRCm39)	I65T	probably benign	Het
Tgm2	T	C	2: 157,960,824 (GRCm39)	D618G	probably benign	Het
Tuba3b	C	T	6: 145,565,408 (GRCm39)	T292I	probably damaging	Het
Vmn1r63	G	A	7: 5,806,140 (GRCm39)	S164L	probably benign	Het
Zfp382	A	G	7: 29,832,774 (GRCm39)	K142E	probably damaging	Het

Other mutations in Zmym3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2111:Zmym3	UTSW	X	100,450,993 (GRCm39)	missense	probably damaging	1.00
R2112:Zmym3	UTSW	X	100,450,993 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCATACATCTGGGAGAAGCTC -3'
(R):5'- TGCTGGAATAAGAGGGTGATCC -3'

Sequencing Primer
(F):5'- TACATCTGGGAGAAGCTCTAGCC -3'
(R):5'- GGTGATCCTGGATTACTGAAACC -3'

Posted On

2016-12-15