Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00573:Zmynd11'

15042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

IGL00573

Quality Score

Status

Chromosome

Chromosomal Location

9734869-9815366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9739262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 510 (E510A)

Ref Sequence

ENSEMBL: ENSMUSP00000106268 (fasta)

Gene Model

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

AlphaFold

Q8R5C8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062658
AA Change: E454A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: E454A

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: E524A

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

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: E524A

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: E508A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: E508A

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: E477A

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: E477A

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: E508A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: E508A

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: E454A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: E454A

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: E510A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: E510A

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

noncoding transcript
Transcript: ENSMUST00000137813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222475
AA Change: E423A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222421

Predicted Effect

probably benign
Transcript: ENSMUST00000220996

Predicted Effect

probably benign
Transcript: ENSMUST00000157035

Predicted Effect

probably benign
Transcript: ENSMUST00000223421

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,877,704 (GRCm39)	D687G	probably benign	Het
Cd69	C	A	6: 129,245,283 (GRCm39)	V140F	probably damaging	Het
Cep290	C	T	10: 100,376,223 (GRCm39)	P1437L	probably damaging	Het
Chd4	T	C	6: 125,086,860 (GRCm39)	Y1023H	probably damaging	Het
Col6a4	T	A	9: 105,900,095 (GRCm39)	Y1676F	probably benign	Het
Ctnna2	A	C	6: 76,879,264 (GRCm39)		probably benign	Het
Cwf19l2	T	C	9: 3,450,161 (GRCm39)		probably benign	Het
Fbln1	A	T	15: 85,111,238 (GRCm39)	M131L	probably benign	Het
Flcn	A	G	11: 59,686,649 (GRCm39)	V368A	probably damaging	Het
Marveld2	A	T	13: 100,734,367 (GRCm39)		probably benign	Het
Mcm8	A	G	2: 132,674,732 (GRCm39)	Y400C	possibly damaging	Het
Mdn1	T	C	4: 32,666,619 (GRCm39)		probably null	Het
Nedd4	T	A	9: 72,593,338 (GRCm39)		probably null	Het
Nlrp3	C	T	11: 59,455,942 (GRCm39)	H913Y	possibly damaging	Het
Pkd1	G	T	17: 24,813,504 (GRCm39)	E4015*	probably null	Het
Plscr1	C	T	9: 92,146,732 (GRCm39)	L125F	probably benign	Het
Trim30c	T	A	7: 104,031,838 (GRCm39)	I326L	possibly damaging	Het
Tsga10	T	C	1: 37,846,151 (GRCm39)	D325G	probably damaging	Het
Tubgcp4	A	G	2: 121,009,182 (GRCm39)	Y158C	probably damaging	Het
Zbtb40	G	A	4: 136,745,389 (GRCm39)	P215S	probably benign	Het
Zfp568	A	T	7: 29,721,865 (GRCm39)	H269L	possibly damaging	Het

Other mutations in Zmynd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7322:Zmynd11	UTSW	13	9,740,445 (GRCm39)	missense	possibly damaging	0.53
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

Posted On

2012-12-06