Mutagenetix > Incidental Mutation

Incidental Mutation 'R2991:Zmynd11'

257916

Institutional Source

Beutler Lab

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R2991 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9734869-9815366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9745858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 165 (V165A)

Ref Sequence

ENSEMBL: ENSMUSP00000106263 (fasta)

Gene Model

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

AlphaFold

Q8R5C8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062658
AA Change: V151A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: V151A

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: V165A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: V165A

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: V205A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: V205A

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: V174A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: V174A

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: V205A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: V205A

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: V151A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: V151A

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: V151A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: V151A

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: ENSMUST00000154994
AA Change: V205A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: V205A

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: ENSMUST00000130151
AA Change: V220A

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

SMART Domains

Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: V220A

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: ENSMUST00000140180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137932

Predicted Effect

probably benign
Transcript: ENSMUST00000157035

Predicted Effect

probably benign
Transcript: ENSMUST00000222475
AA Change: V120A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222038

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: ENSMUST00000220996

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: 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

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: ENSMUST00000223421
AA Change: V205A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	A	9: 30,832,690 (GRCm39)	T282S	probably benign	Het
Asic2	C	A	11: 81,858,863 (GRCm39)	V50L	probably benign	Het
Cdadc1	T	C	14: 59,823,521 (GRCm39)	M324V	possibly damaging	Het
Cdcp3	A	T	7: 130,848,429 (GRCm39)	D861V	probably damaging	Het
Col12a1	A	T	9: 79,607,547 (GRCm39)	V427D	probably damaging	Het
Col3a1	C	A	1: 45,374,939 (GRCm39)		probably benign	Het
Esp24	A	T	17: 39,350,894 (GRCm39)	E31D	possibly damaging	Het
Igkv14-100	T	A	6: 68,496,335 (GRCm39)	L76*	probably null	Het
Itsn2	T	C	12: 4,708,474 (GRCm39)	V843A	probably benign	Het
Llgl2	T	C	11: 115,741,946 (GRCm39)	S663P	probably benign	Het
Lsg1	T	C	16: 30,380,547 (GRCm39)	N630S	probably damaging	Het
Lypd8l	C	T	11: 58,501,516 (GRCm39)	V156I	possibly damaging	Het
Msh4	A	G	3: 153,611,497 (GRCm39)	V42A	probably benign	Het
Nkx6-1	T	C	5: 101,807,401 (GRCm39)	Y327C	probably damaging	Het
Or9i1b	G	A	19: 13,896,675 (GRCm39)	C97Y	probably damaging	Het
Pde4a	T	C	9: 21,114,539 (GRCm39)	S369P	probably damaging	Het
Pkdrej	T	C	15: 85,704,137 (GRCm39)	I600V	probably benign	Het
Plekhg6	T	C	6: 125,347,432 (GRCm39)	E479G	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rgmb	A	T	17: 16,041,352 (GRCm39)	D78E	probably damaging	Het
Samd12	C	T	15: 53,723,592 (GRCm39)	E34K	probably damaging	Het
Slc22a21	T	G	11: 53,850,195 (GRCm39)	E220A	probably damaging	Het
Smc6	A	G	12: 11,339,982 (GRCm39)	E430G	probably damaging	Het
Snx15	C	A	19: 6,171,515 (GRCm39)	L186F	probably damaging	Het
Tiam2	A	G	17: 3,568,525 (GRCm39)	E1557G	probably benign	Het
Vwa8	A	T	14: 79,232,589 (GRCm39)	T644S	probably benign	Het
Zcchc4	T	A	5: 52,961,780 (GRCm39)	F247Y	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGTAAGCCACACCAGGAAGC -3'
(R):5'- TTCCTATTGGCAAAGCTCAGC -3'

Sequencing Primer
(F):5'- GGAAGCAAGCATCAGTTTAAATTCC -3'
(R):5'- CCACATGTGGCTCTGTTA -3'

Posted On

2015-01-11