Mutagenetix > Incidental Mutations

Incidental Mutation 'R4708:Zmynd11'

355441

Institutional Source

Beutler Lab

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

MMRRC Submission

042017-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R4708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9684833-9765330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9695753 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 188 (V188G)

Ref Sequence

ENSEMBL: ENSMUSP00000106263 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062658
AA Change: V174G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: V174G

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: V188G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: V188G

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 benign
Transcript: ENSMUST00000110634
AA Change: V228G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: V228G

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
AA Change: V197G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: V197G

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 benign
Transcript: ENSMUST00000110636
AA Change: V228G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: V228G

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

possibly damaging
Transcript: ENSMUST00000110637
AA Change: V174G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: V174G

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 benign
Transcript: ENSMUST00000110638
AA Change: V174G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: V174G

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 benign
Transcript: ENSMUST00000128658

SMART Domains

Protein: ENSMUSP00000121574
Gene: ENSMUSG00000021156

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130151
AA Change: V243G

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: V243G

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: ENSMUST00000137932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138039

Predicted Effect

probably benign
Transcript: ENSMUST00000140180

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

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: ENSMUST00000152725

SMART Domains

Protein: ENSMUSP00000118002
Gene: ENSMUSG00000021156

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 benign
Transcript: ENSMUST00000154994
AA Change: V228G

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: V228G

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: ENSMUST00000220996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222038

Predicted Effect

probably benign
Transcript: ENSMUST00000222475
AA Change: V143G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222927

Predicted Effect

probably benign
Transcript: ENSMUST00000223421
AA Change: V228G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.2646

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,611,885	G2D	probably damaging	Het
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
4930505A04Rik	T	C	11: 30,454,717	Y62C	probably damaging	Het
4931408C20Rik	A	T	1: 26,684,440	V553D	possibly damaging	Het
Aadacl4	A	C	4: 144,623,329	K385N	probably benign	Het
Abcb4	A	T	5: 8,915,125	T332S	possibly damaging	Het
Aco2	G	A	15: 81,909,916		probably null	Het
Aplf	G	T	6: 87,663,757	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,333,562		probably benign	Het
B4galnt1	T	A	10: 127,169,815	Y262N	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
BC017158	A	G	7: 128,274,680	V345A	probably benign	Het
Ccdc62	T	G	5: 123,930,862		probably null	Het
Cd109	T	A	9: 78,672,589	I649K	probably benign	Het
Cd209b	T	C	8: 3,924,215	E99G	probably damaging	Het
Cep290	A	G	10: 100,523,264	K952R	probably benign	Het
Ces2a	A	G	8: 104,737,306	H190R	probably benign	Het
Clec14a	A	G	12: 58,267,703	S378P	probably benign	Het
Col27a1	A	G	4: 63,283,913	Q947R	probably benign	Het
Dennd3	A	G	15: 73,523,495	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970	M486L	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,220,323	H125Q	probably damaging	Het
Fam35a	A	G	14: 34,267,833	V372A	probably benign	Het
Fcgbp	A	T	7: 28,094,961	M1197L	probably benign	Het
Fubp3	C	T	2: 31,608,110	T92I	probably benign	Het
Gm19426	T	C	2: 84,743,459		probably null	Het
Gtf2ird2	A	G	5: 134,216,298	H466R	probably damaging	Het
Hdac5	T	C	11: 102,202,193	S573G	probably damaging	Het
Iars2	A	T	1: 185,289,357	M916K	probably benign	Het
Insr	A	T	8: 3,211,346		probably benign	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ivl	T	A	3: 92,571,750	K336I	probably damaging	Het
Kcng2	A	G	18: 80,322,852	I95T	probably damaging	Het
Lap3	A	G	5: 45,511,138	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,629,662	H115R	probably benign	Het
Morc3	T	C	16: 93,873,238	V767A	probably benign	Het
Mttp	A	G	3: 138,134,098		probably benign	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nat9	G	A	11: 115,183,443	T133M	probably damaging	Het
Nectin4	T	C	1: 171,385,146	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,464,108	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,384,840	M438K	probably benign	Het
Olfr1384	T	A	11: 49,514,389	Y250*	probably null	Het
Olfr1444	A	T	19: 12,861,897	I41F	probably benign	Het
Olfr551	A	T	7: 102,587,836	D302E	probably benign	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pde6c	G	A	19: 38,180,893	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,428,067	W216R	probably damaging	Het
Rhof	T	A	5: 123,120,391	T126S	probably benign	Het
Riox2	A	G	16: 59,475,682	I49V	probably benign	Het
Tmc6	A	T	11: 117,768,948	C750S	probably benign	Het
Tmem231	C	A	8: 111,933,786		probably benign	Het
Tmem94	T	A	11: 115,786,295	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,521,039		probably null	Het
Tnfrsf21	C	T	17: 43,038,232	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,739,861	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,694,314	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,541,343	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,601,202	H177L	probably benign	Het
Vnn1	T	A	10: 23,897,352	D92E	probably benign	Het
Zan	T	C	5: 137,446,712	I1762V	unknown	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,245,503		probably null	Het
Zfp560	T	C	9: 20,351,918	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,590,232	H415Y	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	unclassified	probably null
R2991:Zmynd11	UTSW	13	9695822	missense	probably damaging	0.99
R4273:Zmynd11	UTSW	13	9697690	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGTCAAAAGAATGCTTTCCCCAC -3'
(R):5'- CCACTGTGGGAAGTAGACACAC -3'

Sequencing Primer
(F):5'- GAATGCTTTCCCCACACAGG -3'
(R):5'- GTAGACACACTGGCCACATGTG -3'

Posted On

2015-10-21