Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Zmynd11'

202580

Institutional Source

Beutler Lab

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9684833-9765330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9689580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 474 (T474A)

Ref Sequence

ENSEMBL: ENSMUSP00000106263 (fasta)

Gene Model

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

AlphaFold

Q8R5C8

Predicted Effect

probably benign
Transcript: ENSMUST00000062658
AA Change: T404A

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

SMART Domains

Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: T404A

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: T474A

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

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: T474A

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: T458A

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

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: T458A

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: T427A

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

SMART Domains

Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: T427A

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: T458A

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

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: T458A

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
AA Change: T404A

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

SMART Domains

Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: T404A

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: T460A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: T460A

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

noncoding transcript
Transcript: ENSMUST00000137813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138039

Predicted Effect

probably benign
Transcript: ENSMUST00000222475
AA Change: T373A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223421
AA Change: T457A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222215

Predicted Effect

probably benign
Transcript: ENSMUST00000157035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222421

Predicted Effect

probably benign
Transcript: ENSMUST00000220996

Meta Mutation Damage Score

0.1107

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	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
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
R4273:Zmynd11	UTSW	13	9697690	missense	probably damaging	1.00
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'- GAAGCTTTGCACTCTCCACC -3'
(R):5'- ACCAGCTTAATTACCTGCTTGG -3'

Sequencing Primer
(F):5'- GCACTCTCCACCGCCCC -3'
(R):5'- CTGAATCAGGGTGAGTTATATTACCC -3'

Posted On

2014-06-23