Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Zmynd11'

322289

Institutional Source

Beutler Lab

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9684833-9765330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9697690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 203 (Y203C)

Ref Sequence

ENSEMBL: ENSMUSP00000118964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062658] [ENSMUST00000110633] [ENSMUST00000110634] [ENSMUST00000110635] [ENSMUST00000110636] [ENSMUST00000110637] [ENSMUST00000110638] [ENSMUST00000128658] [ENSMUST00000130151] [ENSMUST00000152725] [ENSMUST00000154994] [ENSMUST00000157035] [ENSMUST00000223421] [ENSMUST00000146059] [ENSMUST00000222475] [ENSMUST00000220996] [ENSMUST00000144642]

AlphaFold

Q8R5C8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062658
AA Change: Y134C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: Y134C

Domain	Start	End	E-Value	Type
BROMO	97	203	1.03e-18	SMART
PWWP	224	275	1.96e-21	SMART
low complexity region	318	331	N/A	INTRINSIC
low complexity region	351	362	N/A	INTRINSIC
coiled coil region	433	473	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110633
AA Change: Y148C

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

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: Y148C

Domain	Start	End	E-Value	Type
PHD	62	106	4.19e-7	SMART
RING	66	105	8.31e-1	SMART
BROMO	111	217	1.03e-18	SMART
PWWP	238	289	1.96e-21	SMART
low complexity region	332	345	N/A	INTRINSIC
low complexity region	418	437	N/A	INTRINSIC
coiled coil region	503	543	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110634
AA Change: Y188C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: Y188C

Domain	Start	End	E-Value	Type
PHD	102	146	4.19e-7	SMART
RING	106	145	8.31e-1	SMART
BROMO	151	257	1.03e-18	SMART
PWWP	278	329	1.96e-21	SMART
low complexity region	372	385	N/A	INTRINSIC
low complexity region	405	416	N/A	INTRINSIC
coiled coil region	487	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110635

SMART Domains

Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156

Domain	Start	End	E-Value	Type
PHD	102	146	4.19e-7	SMART
RING	106	145	8.31e-1	SMART
BROMO	133	226	3.35e-4	SMART
PWWP	247	298	1.96e-21	SMART
low complexity region	341	354	N/A	INTRINSIC
low complexity region	374	385	N/A	INTRINSIC
coiled coil region	456	496	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110636
AA Change: Y188C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: Y188C

Domain	Start	End	E-Value	Type
PHD	102	146	4.19e-7	SMART
RING	106	145	8.31e-1	SMART
BROMO	151	257	1.03e-18	SMART
PWWP	278	329	1.96e-21	SMART
low complexity region	372	385	N/A	INTRINSIC
low complexity region	405	416	N/A	INTRINSIC
coiled coil region	487	527	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110637
AA Change: Y134C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: Y134C

Domain	Start	End	E-Value	Type
BROMO	97	203	1.03e-18	SMART
PWWP	224	275	1.96e-21	SMART
low complexity region	318	331	N/A	INTRINSIC
low complexity region	351	362	N/A	INTRINSIC
coiled coil region	433	473	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110638
AA Change: Y134C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: Y134C

Domain	Start	End	E-Value	Type
BROMO	97	203	1.03e-18	SMART
PWWP	224	275	1.96e-21	SMART
low complexity region	318	331	N/A	INTRINSIC
low complexity region	404	423	N/A	INTRINSIC
coiled coil region	489	529	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128658
AA Change: Y134C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121574
Gene: ENSMUSG00000021156
AA Change: Y134C

Domain	Start	End	E-Value	Type
Blast:BROMO	97	149	8e-32	BLAST
PDB:4N4I\|A	99	149	6e-29	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000130151
AA Change: Y203C

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

SMART Domains

Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: Y203C

Domain	Start	End	E-Value	Type
PHD	117	161	4.19e-7	SMART
RING	121	160	8.31e-1	SMART
BROMO	166	272	1.03e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138039

Predicted Effect

probably damaging
Transcript: ENSMUST00000152725
AA Change: Y188C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118002
Gene: ENSMUSG00000021156
AA Change: Y188C

Domain	Start	End	E-Value	Type
PHD	102	146	4.19e-7	SMART
RING	106	145	8.31e-1	SMART
Blast:BROMO	151	203	8e-31	BLAST
PDB:4N4I\|A	153	203	2e-27	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000154994
AA Change: Y188C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: Y188C

Domain	Start	End	E-Value	Type
PHD	102	146	4.19e-7	SMART
RING	106	145	8.31e-1	SMART
BROMO	151	249	1.59e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000157035

Predicted Effect

probably benign
Transcript: ENSMUST00000140180

Predicted Effect

probably damaging
Transcript: ENSMUST00000223421
AA Change: Y188C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222927

Predicted Effect

probably benign
Transcript: ENSMUST00000146059

SMART Domains

Protein: ENSMUSP00000122133
Gene: ENSMUSG00000021156

Domain	Start	End	E-Value	Type
Blast:BROMO	38	81	1e-23	BLAST
PDB:4N4I\|A	59	89	2e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000222475

Predicted Effect

probably benign
Transcript: ENSMUST00000220996

Predicted Effect

probably benign
Transcript: ENSMUST00000144642

SMART Domains

Protein: ENSMUSP00000117375
Gene: ENSMUSG00000021156

Domain	Start	End	E-Value	Type
PHD	102	146	4.19e-7	SMART
RING	106	145	8.31e-1	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het

Other mutations in Zmynd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Zmynd11	APN	13	9689226	missense	probably damaging	0.97
IGL00846:Zmynd11	APN	13	9720772	critical splice donor site	probably null
IGL01606:Zmynd11	APN	13	9697688	missense	probably damaging	1.00
IGL03229:Zmynd11	APN	13	9689565	missense	probably damaging	1.00
R1173:Zmynd11	UTSW	13	9689549	missense	probably damaging	1.00
R1413:Zmynd11	UTSW	13	9710220	missense	probably damaging	1.00
R1813:Zmynd11	UTSW	13	9689580	missense	possibly damaging	0.53
R1872:Zmynd11	UTSW	13	9698701	missense	possibly damaging	0.88
R2002:Zmynd11	UTSW	13	9689478	splice site	probably null
R2991:Zmynd11	UTSW	13	9695822	missense	probably damaging	0.99
R4708:Zmynd11	UTSW	13	9695753	missense	probably damaging	0.97
R4718:Zmynd11	UTSW	13	9689567	missense	possibly damaging	0.86
R5011:Zmynd11	UTSW	13	9689443	unclassified	probably benign
R5151:Zmynd11	UTSW	13	9690917	missense	probably damaging	1.00
R5963:Zmynd11	UTSW	13	9695895	intron	probably benign
R6648:Zmynd11	UTSW	13	9713021	missense	probably benign	0.11
R7002:Zmynd11	UTSW	13	9694330	missense	probably damaging	1.00
R7223:Zmynd11	UTSW	13	9710162	missense	probably benign	0.09
R7322:Zmynd11	UTSW	13	9690409	missense	possibly damaging	0.53
R7462:Zmynd11	UTSW	13	9698684	missense	probably benign	0.29
R7500:Zmynd11	UTSW	13	9735398	missense	probably benign	0.00
R7737:Zmynd11	UTSW	13	9695139	missense	probably damaging	1.00
R8181:Zmynd11	UTSW	13	9689651	missense	probably benign	0.08
R8331:Zmynd11	UTSW	13	9695154	missense	probably benign	0.21
R8853:Zmynd11	UTSW	13	9690929	missense	probably damaging	0.99
R9115:Zmynd11	UTSW	13	9693459	missense	probably damaging	1.00
R9184:Zmynd11	UTSW	13	9693439	missense	probably benign	0.01
R9747:Zmynd11	UTSW	13	9689208	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCCTTTCAAATTTCGCATTGTAGTG -3'
(R):5'- CTTCTATCAAACCTTGAAGAATGCC -3'

Sequencing Primer
(F):5'- TATAGGTAGGACTGTGTCAATCAGC -3'
(R):5'- TGCCACATTACATTAACTGTACTC -3'

Posted On

2015-06-20