Mutagenetix > Incidental Mutations

Incidental Mutation 'R7229:Zmynd8'

562334

Institutional Source

Beutler Lab

Gene Symbol

Zmynd8

Ensembl Gene

ENSMUSG00000039671

Gene Name

zinc finger, MYND-type containing 8

Synonyms

2010005I16Rik, ZMYND8, RACK7, 1110013E22Rik, 3632413B07Rik, Prkcbp1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165784152-165899016 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 165858053 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109262] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000136842] [ENSMUST00000144530] [ENSMUST00000153655] [ENSMUST00000170272] [ENSMUST00000177633]

Predicted Effect

probably benign
Transcript: ENSMUST00000018050

SMART Domains

Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	37	56	N/A	INTRINSIC
PHD	90	131	2.23e-11	SMART
BROMO	147	254	1.77e-17	SMART
Pfam:PWWP	275	349	4e-12	PFAM
Pfam:DUF3544	412	624	9.8e-112	PFAM
internal_repeat_2	640	701	9.06e-5	PROSPERO
low complexity region	770	805	N/A	INTRINSIC
low complexity region	853	868	N/A	INTRINSIC
low complexity region	875	887	N/A	INTRINSIC
coiled coil region	916	978	N/A	INTRINSIC
Pfam:zf-MYND	988	1022	2.2e-7	PFAM
low complexity region	1055	1075	N/A	INTRINSIC
low complexity region	1142	1156	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088113

SMART Domains

Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
PHD	85	126	2.23e-11	SMART
BROMO	142	249	1.77e-17	SMART
Pfam:PWWP	271	346	2.7e-11	PFAM
Pfam:DUF3544	408	617	2.1e-102	PFAM
internal_repeat_2	635	696	4.2e-5	PROSPERO
low complexity region	765	800	N/A	INTRINSIC
low complexity region	848	863	N/A	INTRINSIC
low complexity region	870	882	N/A	INTRINSIC
coiled coil region	911	973	N/A	INTRINSIC
low complexity region	1050	1070	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099084

SMART Domains

Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	37	56	N/A	INTRINSIC
PHD	65	106	2.23e-11	SMART
BROMO	122	229	1.77e-17	SMART
Pfam:PWWP	250	324	4.1e-12	PFAM
Pfam:DUF3544	387	599	1e-111	PFAM
internal_repeat_2	615	676	4.95e-5	PROSPERO
low complexity region	745	780	N/A	INTRINSIC
low complexity region	819	844	N/A	INTRINSIC
low complexity region	880	895	N/A	INTRINSIC
low complexity region	902	914	N/A	INTRINSIC
coiled coil region	943	1005	N/A	INTRINSIC
Pfam:zf-MYND	1015	1049	2.3e-7	PFAM
low complexity region	1082	1102	N/A	INTRINSIC
low complexity region	1169	1183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109262

SMART Domains

Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	37	56	N/A	INTRINSIC
PHD	65	106	2.23e-11	SMART
BROMO	122	229	1.77e-17	SMART
Pfam:PWWP	250	324	1.2e-12	PFAM
Pfam:DUF3544	387	460	3.1e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109266

SMART Domains

Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	6	11	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
PHD	110	151	2.23e-11	SMART
BROMO	167	274	1.77e-17	SMART
Pfam:PWWP	295	369	4.1e-12	PFAM
Pfam:DUF3544	432	644	1e-111	PFAM
internal_repeat_2	660	721	8.36e-5	PROSPERO
low complexity region	790	825	N/A	INTRINSIC
low complexity region	873	888	N/A	INTRINSIC
low complexity region	895	907	N/A	INTRINSIC
coiled coil region	936	998	N/A	INTRINSIC
Pfam:zf-MYND	1008	1042	2.3e-7	PFAM
low complexity region	1075	1095	N/A	INTRINSIC
low complexity region	1162	1176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109269

SMART Domains

Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
low complexity region	41	60	N/A	INTRINSIC
PHD	94	135	2.23e-11	SMART
BROMO	151	258	1.77e-17	SMART
Pfam:PWWP	280	355	6.6e-11	PFAM
Pfam:DUF3544	417	626	2.6e-102	PFAM
internal_repeat_2	644	705	6.15e-5	PROSPERO
low complexity region	774	809	N/A	INTRINSIC
low complexity region	848	873	N/A	INTRINSIC
low complexity region	909	924	N/A	INTRINSIC
low complexity region	931	943	N/A	INTRINSIC
coiled coil region	972	1034	N/A	INTRINSIC
low complexity region	1111	1131	N/A	INTRINSIC
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136842

SMART Domains

Protein: ENSMUSP00000120631
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC
PHD	96	137	2.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144530

Predicted Effect

probably benign
Transcript: ENSMUST00000153655

SMART Domains

Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
PHD	85	126	2.23e-11	SMART
BROMO	142	249	1.77e-17	SMART
Pfam:PWWP	270	344	3.5e-12	PFAM
Pfam:DUF3544	407	480	6.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170272

SMART Domains

Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	37	56	N/A	INTRINSIC
PHD	65	106	2.23e-11	SMART
BROMO	122	229	1.77e-17	SMART
Pfam:PWWP	250	324	1.1e-11	PFAM
Pfam:DUF3544	387	599	1.9e-111	PFAM
internal_repeat_2	615	676	7.92e-5	PROSPERO
low complexity region	745	780	N/A	INTRINSIC
low complexity region	828	843	N/A	INTRINSIC
low complexity region	850	862	N/A	INTRINSIC
coiled coil region	891	953	N/A	INTRINSIC
Pfam:zf-MYND	963	997	1.1e-6	PFAM
low complexity region	1030	1050	N/A	INTRINSIC
low complexity region	1117	1131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177633

SMART Domains

Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
PHD	85	126	2.23e-11	SMART
BROMO	142	249	1.77e-17	SMART
Pfam:PWWP	270	344	9.6e-12	PFAM
Pfam:DUF3544	407	619	1.8e-111	PFAM
internal_repeat_2	635	696	6.45e-5	PROSPERO
low complexity region	765	800	N/A	INTRINSIC
low complexity region	848	863	N/A	INTRINSIC
low complexity region	870	882	N/A	INTRINSIC
coiled coil region	911	973	N/A	INTRINSIC
Pfam:zf-MYND	983	1017	6.7e-7	PFAM
low complexity region	1050	1070	N/A	INTRINSIC
low complexity region	1137	1151	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,595,352	E122G	probably benign	Het
Adamts2	T	C	11: 50,791,820	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,420,905	S830P	probably benign	Het
Atp1a3	T	A	7: 24,987,985	Q696L	probably benign	Het
Brox	G	A	1: 183,291,959	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,890,242	I197V	probably benign	Het
Cand2	G	A	6: 115,791,192	V433M	probably damaging	Het
Cep83	A	G	10: 94,719,665	K74E	probably damaging	Het
Chrng	A	T	1: 87,209,444	T275S	probably benign	Het
Clca2	T	C	3: 145,084,108	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,695,424		probably null	Het
Cnga1	T	C	5: 72,618,249	N43S	probably benign	Het
Cog8	A	T	8: 107,056,352	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,296,737		probably null	Het
Cyp26b1	G	A	6: 84,577,150	Q162*	probably null	Het
Elmod3	A	G	6: 72,594,753	F14S	probably benign	Het
Eps8	A	G	6: 137,539,356	S9P	probably benign	Het
Fam105a	G	A	15: 27,658,187	T199M	probably benign	Het
Fam184b	T	C	5: 45,584,175	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,977,369	L654S	unknown	Het
Foxp1	A	T	6: 98,935,412	L580Q	unknown	Het
Galr1	A	G	18: 82,405,664	S163P	probably damaging	Het
Ganc	T	C	2: 120,427,775	F201L	possibly damaging	Het
Gin1	T	C	1: 97,785,151	F310L	probably benign	Het
Grik2	A	T	10: 49,101,416		probably null	Het
Haus1	A	T	18: 77,764,134	F94I	probably benign	Het
Hcn4	A	G	9: 58,853,399	Y409C	unknown	Het
Hspa1l	A	G	17: 34,977,255	K90R	probably benign	Het
Icam5	T	C	9: 21,037,001	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,499,556	H315R	probably benign	Het
Klra9	T	C	6: 130,191,261	H14R	probably damaging	Het
Krt78	A	G	15: 101,947,394	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,570,925	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,292,662	S598I	unknown	Het
Lama1	A	T	17: 67,752,446	D608V		Het
Lrrc55	G	A	2: 85,196,440	T80I	probably damaging	Het
Lyst	A	T	13: 13,643,509	T1255S	probably benign	Het
Magi2	T	C	5: 20,465,588	V310A	probably damaging	Het
Med23	C	A	10: 24,902,004	A750D	probably benign	Het
Mmp2	G	A	8: 92,831,786	R161Q	probably damaging	Het
Myo15	A	T	11: 60,496,495	I733F	probably benign	Het
Ncan	A	T	8: 70,100,311	F1090L	possibly damaging	Het
Olfr701	T	G	7: 106,818,995	V304G	probably damaging	Het
Pafah1b1	A	G	11: 74,682,278	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,266,687	Y564N	probably damaging	Het
Pear1	A	G	3: 87,750,289	S988P	probably benign	Het
Pgam2	A	C	11: 5,803,013	V194G	probably damaging	Het
Plvap	A	T	8: 71,511,577	I47N	probably damaging	Het
Prdx6	A	T	1: 161,247,297	L71H	probably damaging	Het
Psmb11	G	A	14: 54,625,951	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,227,225		probably null	Het
Rcn2	T	A	9: 56,057,479	N240K	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Slc12a4	T	G	8: 105,946,737	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,488,048	M1085K	unknown	Het
Smg1	A	T	7: 118,176,955	C1371S	probably benign	Het
Spg11	A	T	2: 122,108,104	F456L	probably damaging	Het
Srsf10	C	T	4: 135,856,217		probably benign	Het
Stxbp5	T	C	10: 9,798,187	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,480,280	D881V	unknown	Het
Tmem171	T	C	13: 98,692,625	T6A	probably benign	Het
Tmem220	T	C	11: 67,026,163	L55P	unknown	Het
Ttn	G	T	2: 76,846,781	P11037Q	unknown	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Usp47	T	C	7: 112,092,877	S849P	probably benign	Het
Vcan	G	A	13: 89,705,270	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,390,098	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,540,963	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,455,653	R178C	probably damaging	Het
Wdr76	G	A	2: 121,528,920	V231I	probably damaging	Het
Xirp2	A	T	2: 67,525,551	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,258,625	T933A	probably benign	Het
Zranb3	A	T	1: 128,040,893	I95K	probably benign	Het

Other mutations in Zmynd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Zmynd8	APN	2	165812814	missense	probably damaging	1.00
IGL01311:Zmynd8	APN	2	165805209	missense	probably damaging	1.00
IGL02317:Zmynd8	APN	2	165820572	missense	possibly damaging	0.92
IGL02548:Zmynd8	APN	2	165833405	missense	probably damaging	1.00
IGL02798:Zmynd8	APN	2	165852150	critical splice acceptor site	probably null
IGL02933:Zmynd8	APN	2	165828318	missense	possibly damaging	0.65
F5770:Zmynd8	UTSW	2	165812394	nonsense	probably null
I1329:Zmynd8	UTSW	2	165828225	missense	probably damaging	1.00
P0031:Zmynd8	UTSW	2	165820698	splice site	probably benign
R0267:Zmynd8	UTSW	2	165828402	missense	probably damaging	1.00
R0608:Zmynd8	UTSW	2	165787158	splice site	probably null
R1663:Zmynd8	UTSW	2	165807885	missense	probably benign	0.11
R2212:Zmynd8	UTSW	2	165815451	missense	probably damaging	1.00
R3412:Zmynd8	UTSW	2	165815451	missense	probably damaging	1.00
R3413:Zmynd8	UTSW	2	165815451	missense	probably damaging	1.00
R3749:Zmynd8	UTSW	2	165805198	missense	probably damaging	1.00
R3820:Zmynd8	UTSW	2	165815461	nonsense	probably null
R3836:Zmynd8	UTSW	2	165858099	missense	probably benign	0.05
R3957:Zmynd8	UTSW	2	165812475	missense	probably damaging	0.99
R4379:Zmynd8	UTSW	2	165807938	splice site	probably null
R4526:Zmynd8	UTSW	2	165807607	intron	probably benign
R4739:Zmynd8	UTSW	2	165805329	missense	probably damaging	1.00
R4838:Zmynd8	UTSW	2	165840034	nonsense	probably null
R4932:Zmynd8	UTSW	2	165834951	missense	possibly damaging	0.90
R4933:Zmynd8	UTSW	2	165834951	missense	possibly damaging	0.90
R4997:Zmynd8	UTSW	2	165792816	missense	probably benign	0.01
R5652:Zmynd8	UTSW	2	165807698	missense	probably damaging	1.00
R5741:Zmynd8	UTSW	2	165840017	missense	probably damaging	1.00
R6008:Zmynd8	UTSW	2	165842787	missense	possibly damaging	0.77
R6242:Zmynd8	UTSW	2	165898947	missense	possibly damaging	0.91
R6332:Zmynd8	UTSW	2	165838852	missense	probably damaging	1.00
R6394:Zmynd8	UTSW	2	165846023	nonsense	probably null
R6772:Zmynd8	UTSW	2	165807601	missense	probably benign	0.35
R6970:Zmynd8	UTSW	2	165875750	missense	probably damaging	1.00
R6986:Zmynd8	UTSW	2	165833415	missense	probably damaging	1.00
R7266:Zmynd8	UTSW	2	165807572	missense	possibly damaging	0.49
R7296:Zmynd8	UTSW	2	165840009	missense	probably damaging	0.98
R7642:Zmynd8	UTSW	2	165812426	missense	probably damaging	1.00
V7580:Zmynd8	UTSW	2	165812394	nonsense	probably null
V7581:Zmynd8	UTSW	2	165812394	nonsense	probably null
V7583:Zmynd8	UTSW	2	165812394	nonsense	probably null
Z1088:Zmynd8	UTSW	2	165828171	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAAGAACACGGCTTAGGC -3'
(R):5'- TGGTAAGTGGTGACTCTCAGC -3'

Sequencing Primer
(F):5'- TCAGAGACCCCAGGATCAGG -3'
(R):5'- TAAGTGGTGACTCTCAGCTTGTGC -3'

Posted On

2019-06-26