Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Zmynd11'

568234

Institutional Source

Beutler Lab

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9734869-9815366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9740445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 382 (E382K)

Ref Sequence

ENSEMBL: ENSMUSP00000106263 (fasta)

Gene Model

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

AlphaFold

Q8R5C8

Predicted Effect

probably benign
Transcript: ENSMUST00000062658

SMART Domains

Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156

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

possibly damaging
Transcript: ENSMUST00000110633
AA Change: E382K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: E382K

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

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156

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 benign
Transcript: ENSMUST00000110636

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156

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: ENSMUST00000110637

SMART Domains

Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156

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: E368K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: E368K

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: ENSMUST00000130151

SMART Domains

Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156

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

probably benign
Transcript: ENSMUST00000154994

SMART Domains

Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156

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

probably benign
Transcript: ENSMUST00000222475

Predicted Effect

probably benign
Transcript: ENSMUST00000223421

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het

Other mutations in Zmynd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Zmynd11	APN	13	9,739,262 (GRCm39)	missense	probably damaging	0.97
IGL00846:Zmynd11	APN	13	9,770,808 (GRCm39)	critical splice donor site	probably null
IGL01606:Zmynd11	APN	13	9,747,724 (GRCm39)	missense	probably damaging	1.00
IGL03229:Zmynd11	APN	13	9,739,601 (GRCm39)	missense	probably damaging	1.00
R1173:Zmynd11	UTSW	13	9,739,585 (GRCm39)	missense	probably damaging	1.00
R1413:Zmynd11	UTSW	13	9,760,256 (GRCm39)	missense	probably damaging	1.00
R1813:Zmynd11	UTSW	13	9,739,616 (GRCm39)	missense	possibly damaging	0.53
R1872:Zmynd11	UTSW	13	9,748,737 (GRCm39)	missense	possibly damaging	0.88
R2002:Zmynd11	UTSW	13	9,739,514 (GRCm39)	splice site	probably null
R2991:Zmynd11	UTSW	13	9,745,858 (GRCm39)	missense	probably damaging	0.99
R4273:Zmynd11	UTSW	13	9,747,726 (GRCm39)	missense	probably damaging	1.00
R4708:Zmynd11	UTSW	13	9,745,789 (GRCm39)	missense	probably damaging	0.97
R4718:Zmynd11	UTSW	13	9,739,603 (GRCm39)	missense	possibly damaging	0.86
R5011:Zmynd11	UTSW	13	9,739,479 (GRCm39)	unclassified	probably benign
R5151:Zmynd11	UTSW	13	9,740,953 (GRCm39)	missense	probably damaging	1.00
R5963:Zmynd11	UTSW	13	9,745,931 (GRCm39)	intron	probably benign
R6648:Zmynd11	UTSW	13	9,763,057 (GRCm39)	missense	probably benign	0.11
R7002:Zmynd11	UTSW	13	9,744,366 (GRCm39)	missense	probably damaging	1.00
R7223:Zmynd11	UTSW	13	9,760,198 (GRCm39)	missense	probably benign	0.09
R7462:Zmynd11	UTSW	13	9,748,720 (GRCm39)	missense	probably benign	0.29
R7500:Zmynd11	UTSW	13	9,785,434 (GRCm39)	missense	probably benign	0.00
R7737:Zmynd11	UTSW	13	9,745,175 (GRCm39)	missense	probably damaging	1.00
R8181:Zmynd11	UTSW	13	9,739,687 (GRCm39)	missense	probably benign	0.08
R8331:Zmynd11	UTSW	13	9,745,190 (GRCm39)	missense	probably benign	0.21
R8853:Zmynd11	UTSW	13	9,740,965 (GRCm39)	missense	probably damaging	0.99
R9115:Zmynd11	UTSW	13	9,743,495 (GRCm39)	missense	probably damaging	1.00
R9184:Zmynd11	UTSW	13	9,743,475 (GRCm39)	missense	probably benign	0.01
R9747:Zmynd11	UTSW	13	9,739,244 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACTGCTGTTTTACACAATGCC -3'
(R):5'- CGCGTCCACTACAAGTATTTTC -3'

Sequencing Primer
(F):5'- GTTTTACACAATGCCATGAAACACG -3'
(R):5'- TCAACACAGAGGTATTTCCGTG -3'

Posted On

2019-06-26