Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Zmynd11'

561966

Institutional Source

Beutler Lab

Gene Symbol

Zmynd11

Ensembl Gene

ENSMUSG00000021156

Gene Name

zinc finger, MYND domain containing 11

Synonyms

2210402G22Rik

MMRRC Submission

045295-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9734869-9815366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9760198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 141 (Q141R)

Ref Sequence

ENSEMBL: ENSMUSP00000106266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062658] [ENSMUST00000110633] [ENSMUST00000110634] [ENSMUST00000110635] [ENSMUST00000110636] [ENSMUST00000110637] [ENSMUST00000110638] [ENSMUST00000128658] [ENSMUST00000130151] [ENSMUST00000144642] [ENSMUST00000146039] [ENSMUST00000146059] [ENSMUST00000152725] [ENSMUST00000154994] [ENSMUST00000157035] [ENSMUST00000220996] [ENSMUST00000222358] [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: Q101R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: Q101R

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: Q141R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: Q141R

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: Q141R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: Q141R

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: Q141R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: Q141R

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

SMART Domains

Protein: ENSMUSP00000106268
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	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: Q156R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: Q156R

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: ENSMUST00000144642
AA Change: Q141R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117375
Gene: ENSMUSG00000021156
AA Change: Q141R

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: ENSMUST00000146039

SMART Domains

Protein: ENSMUSP00000116299
Gene: ENSMUSG00000021156

Domain	Start	End	E-Value	Type
SCOP:d1fp0a1	55	87	2e-6	SMART
PDB:4COS\|A	59	87	6e-7	PDB
Blast:PHD	62	96	4e-18	BLAST

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
AA Change: Q141R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118002
Gene: ENSMUSG00000021156
AA Change: Q141R

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: Q141R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: Q141R

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: ENSMUST00000222358

Predicted Effect

probably benign
Transcript: ENSMUST00000222475

Predicted Effect

probably benign
Transcript: ENSMUST00000223421
AA Change: Q141R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,104,487 (GRCm39)	V733E	probably benign	Het
Adam34	A	T	8: 44,105,041 (GRCm39)	N201K	probably benign	Het
Aldh3b2	A	C	19: 4,029,592 (GRCm39)	S322R	probably damaging	Het
Anpep	A	T	7: 79,475,058 (GRCm39)	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,235,139 (GRCm39)	F535S	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2a	G	T	10: 127,948,475 (GRCm39)	G252V	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,733,695 (GRCm39)	F359S	possibly damaging	Het
Ccdc124	A	T	8: 71,321,170 (GRCm39)	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,474,972 (GRCm39)	V59A	probably damaging	Het
Ccr8	T	A	9: 119,923,683 (GRCm39)	I266N	probably damaging	Het
Cdh23	T	A	10: 60,167,596 (GRCm39)	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,153,684 (GRCm39)	N1713S	probably benign	Het
Cep19	T	A	16: 31,922,833 (GRCm39)	I33N	probably damaging	Het
Cers3	A	T	7: 66,433,163 (GRCm39)	Y196F	probably damaging	Het
Cidea	T	C	18: 67,499,491 (GRCm39)	I126T	probably damaging	Het
Copg2	A	T	6: 30,789,689 (GRCm39)	Y546*	probably null	Het
Cul3	A	T	1: 80,264,717 (GRCm39)	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,514,057 (GRCm39)	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,744,163 (GRCm39)	H390Y	probably damaging	Het
Daam1	T	C	12: 72,035,717 (GRCm39)	F971L	probably damaging	Het
Dnajc24	G	A	2: 105,832,311 (GRCm39)	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,571,107 (GRCm39)	S56G	probably benign	Het
Esp1	A	G	17: 41,041,972 (GRCm39)	D88G	probably benign	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fam186b	T	C	15: 99,177,718 (GRCm39)	E536G	possibly damaging	Het
Fbxo3	T	C	2: 103,873,357 (GRCm39)	V156A	possibly damaging	Het
Gls2	C	A	10: 128,035,063 (GRCm39)	H65Q	probably benign	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpcpd1	T	A	2: 132,375,976 (GRCm39)	K435I	probably benign	Het
Gpx6	T	A	13: 21,501,840 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,084,583 (GRCm39)	S202T	probably benign	Het
Htr1d	T	A	4: 136,170,812 (GRCm39)	L347H	probably damaging	Het
Igfals	T	C	17: 25,100,208 (GRCm39)	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,419,530 (GRCm39)	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,765,480 (GRCm39)	M1530K	probably damaging	Het
Jarid2	A	G	13: 45,049,798 (GRCm39)	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,120,783 (GRCm39)	V323I	possibly damaging	Het
Lama3	C	T	18: 12,715,665 (GRCm39)	T1707I	possibly damaging	Het
Map6	G	T	7: 98,917,232 (GRCm39)	A2S	probably damaging	Het
Mfap3	T	A	11: 57,421,066 (GRCm39)	I349K	probably benign	Het
Mybl2	A	G	2: 162,914,625 (GRCm39)	T248A	probably benign	Het
N6amt1	A	G	16: 87,159,548 (GRCm39)	*151W	probably null	Het
Nhlrc1	A	G	13: 47,167,684 (GRCm39)	V191A	probably benign	Het
Nkx2-5	T	C	17: 27,058,594 (GRCm39)	E120G	possibly damaging	Het
Or2y10	T	A	11: 49,454,925 (GRCm39)	M59K	probably damaging	Het
Or52r1b	C	A	7: 102,690,839 (GRCm39)	T46N	possibly damaging	Het
Or8b41	T	C	9: 38,055,049 (GRCm39)	V201A	probably benign	Het
Or8k28	T	A	2: 86,286,211 (GRCm39)	I135F	possibly damaging	Het
Pcdha8	T	G	18: 37,126,201 (GRCm39)	L228V	probably benign	Het
Pcsk2	A	G	2: 143,532,253 (GRCm39)	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,324,078 (GRCm39)	R484Q	probably benign	Het
Pipox	A	G	11: 77,772,012 (GRCm39)	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,823,343 (GRCm39)	S159P		Het
Psme4	C	T	11: 30,824,226 (GRCm39)	P1737S	probably benign	Het
Pygm	G	A	19: 6,438,893 (GRCm39)	D328N	probably benign	Het
Rabgef1	A	T	5: 130,219,801 (GRCm39)	E88V	probably benign	Het
Rims2	G	T	15: 39,300,428 (GRCm39)	R245L	probably benign	Het
Slc38a4	T	C	15: 96,908,226 (GRCm39)	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,099,009 (GRCm39)	Y586N	probably damaging	Het
Snap91	C	T	9: 86,761,610 (GRCm39)		probably benign	Het
Sorcs1	C	T	19: 50,178,480 (GRCm39)	V881I	probably benign	Het
Spef2	A	T	15: 9,601,726 (GRCm39)	V1512E	unknown	Het
Sufu	T	C	19: 46,441,716 (GRCm39)	I292T	possibly damaging	Het
Tet1	T	C	10: 62,649,450 (GRCm39)	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,376,733 (GRCm39)	T239A	not run	Het
Tmem121	A	T	12: 113,152,114 (GRCm39)	K111*	probably null	Het
Tpp2	T	A	1: 44,008,048 (GRCm39)	D417E	probably damaging	Het
Tpr	G	A	1: 150,315,007 (GRCm39)	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Ttn	T	C	2: 76,721,325 (GRCm39)	D6754G	probably null	Het
Unc13c	T	A	9: 73,536,473 (GRCm39)	M1627L	probably benign	Het
Ush2a	A	G	1: 188,542,414 (GRCm39)	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,580,894 (GRCm39)	Q65*	probably null	Het
Wdr18	G	A	10: 79,796,202 (GRCm39)	R69H	probably damaging	Het
Zbed5	G	T	5: 129,929,279 (GRCm39)	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,785,448 (GRCm39)	Y366*	probably null	Het
Zfyve26	T	C	12: 79,292,945 (GRCm39)	N2068S	probably damaging	Het
Zic2	T	C	14: 122,713,503 (GRCm39)	F139S	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,388 (GRCm39)	E54G	probably benign	Het
Zscan10	G	A	17: 23,828,456 (GRCm39)	D333N	probably benign	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
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'- TCTGCGATGCCCGTTTATGAG -3'
(R):5'- GCCTAACTTGTGATGGACTTTAGTTTC -3'

Sequencing Primer
(F):5'- CGATGCCCGTTTATGAGTGTTG -3'
(R):5'- TGTGATGGACTTTAGTTTCAATTTTG -3'

Posted On

2019-06-26