Mutagenetix > Incidental Mutation

Incidental Mutation 'P0031:Zmynd8'

7804

Institutional Source

Beutler Lab

Gene Symbol

Zmynd8

Ensembl Gene

ENSMUSG00000039671

Gene Name

zinc finger, MYND-type containing 8

Synonyms

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

MMRRC Submission

038283-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

P0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

165626072-165740896 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 165662618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136211 (fasta)

Gene Model

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

AlphaFold

A2A484

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: 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

noncoding transcript
Transcript: ENSMUST00000152682

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

Coding Region Coverage

1x: 80.2%
3x: 70.9%
10x: 42.6%
20x: 20.3%

Validation Efficiency

85% (81/95)

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dcc	A	G	18: 71,517,299 (GRCm39)		probably benign	Het
Epb41l3	T	A	17: 69,566,049 (GRCm39)	L410*	probably null	Het
Fcer1a	T	A	1: 173,052,899 (GRCm39)	K99M	probably benign	Het
Frmd4b	A	G	6: 97,330,991 (GRCm39)	F132S	probably damaging	Het
Glipr1l1	C	A	10: 111,896,292 (GRCm39)	F26L	probably benign	Het
Letmd1	A	G	15: 100,370,490 (GRCm39)	N62D	probably damaging	Het
Lyst	A	G	13: 13,838,616 (GRCm39)	E1844G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,938 (GRCm39)	Y416C	probably damaging	Het
Rcn1	T	A	2: 105,219,414 (GRCm39)	K260*	probably null	Het
Tcerg1	A	G	18: 42,706,367 (GRCm39)	I1015V	probably benign	Het
Tet2	T	A	3: 133,185,963 (GRCm39)	Y1158F	possibly damaging	Het

Other mutations in Zmynd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Zmynd8	APN	2	165,654,734 (GRCm39)	missense	probably damaging	1.00
IGL01311:Zmynd8	APN	2	165,647,129 (GRCm39)	missense	probably damaging	1.00
IGL02317:Zmynd8	APN	2	165,662,492 (GRCm39)	missense	possibly damaging	0.92
IGL02548:Zmynd8	APN	2	165,675,325 (GRCm39)	missense	probably damaging	1.00
IGL02798:Zmynd8	APN	2	165,694,070 (GRCm39)	critical splice acceptor site	probably null
IGL02933:Zmynd8	APN	2	165,670,238 (GRCm39)	missense	possibly damaging	0.65
cain	UTSW	2	165,699,973 (GRCm39)	critical splice donor site	probably null
F5770:Zmynd8	UTSW	2	165,654,314 (GRCm39)	nonsense	probably null
I1329:Zmynd8	UTSW	2	165,670,145 (GRCm39)	missense	probably damaging	1.00
R0267:Zmynd8	UTSW	2	165,670,322 (GRCm39)	missense	probably damaging	1.00
R0608:Zmynd8	UTSW	2	165,629,078 (GRCm39)	splice site	probably null
R1663:Zmynd8	UTSW	2	165,649,805 (GRCm39)	missense	probably benign	0.11
R2212:Zmynd8	UTSW	2	165,657,371 (GRCm39)	missense	probably damaging	1.00
R3412:Zmynd8	UTSW	2	165,657,371 (GRCm39)	missense	probably damaging	1.00
R3413:Zmynd8	UTSW	2	165,657,371 (GRCm39)	missense	probably damaging	1.00
R3749:Zmynd8	UTSW	2	165,647,118 (GRCm39)	missense	probably damaging	1.00
R3820:Zmynd8	UTSW	2	165,657,381 (GRCm39)	nonsense	probably null
R3836:Zmynd8	UTSW	2	165,700,019 (GRCm39)	missense	probably benign	0.05
R3957:Zmynd8	UTSW	2	165,654,395 (GRCm39)	missense	probably damaging	0.99
R4379:Zmynd8	UTSW	2	165,649,858 (GRCm39)	splice site	probably null
R4526:Zmynd8	UTSW	2	165,649,527 (GRCm39)	intron	probably benign
R4739:Zmynd8	UTSW	2	165,647,249 (GRCm39)	missense	probably damaging	1.00
R4838:Zmynd8	UTSW	2	165,681,954 (GRCm39)	nonsense	probably null
R4932:Zmynd8	UTSW	2	165,676,871 (GRCm39)	missense	possibly damaging	0.90
R4933:Zmynd8	UTSW	2	165,676,871 (GRCm39)	missense	possibly damaging	0.90
R4997:Zmynd8	UTSW	2	165,634,736 (GRCm39)	missense	probably benign	0.01
R5652:Zmynd8	UTSW	2	165,649,618 (GRCm39)	missense	probably damaging	1.00
R5741:Zmynd8	UTSW	2	165,681,937 (GRCm39)	missense	probably damaging	1.00
R6008:Zmynd8	UTSW	2	165,684,707 (GRCm39)	missense	possibly damaging	0.77
R6242:Zmynd8	UTSW	2	165,740,867 (GRCm39)	missense	possibly damaging	0.91
R6332:Zmynd8	UTSW	2	165,680,772 (GRCm39)	missense	probably damaging	1.00
R6394:Zmynd8	UTSW	2	165,687,943 (GRCm39)	nonsense	probably null
R6772:Zmynd8	UTSW	2	165,649,521 (GRCm39)	missense	probably benign	0.35
R6970:Zmynd8	UTSW	2	165,717,670 (GRCm39)	missense	probably damaging	1.00
R6986:Zmynd8	UTSW	2	165,675,335 (GRCm39)	missense	probably damaging	1.00
R7229:Zmynd8	UTSW	2	165,699,973 (GRCm39)	critical splice donor site	probably null
R7266:Zmynd8	UTSW	2	165,649,492 (GRCm39)	missense	possibly damaging	0.49
R7296:Zmynd8	UTSW	2	165,681,929 (GRCm39)	missense	probably damaging	0.98
R7642:Zmynd8	UTSW	2	165,654,346 (GRCm39)	missense	probably damaging	1.00
R7818:Zmynd8	UTSW	2	165,684,751 (GRCm39)	missense	probably damaging	0.97
R7821:Zmynd8	UTSW	2	165,723,000 (GRCm39)	intron	probably benign
R8135:Zmynd8	UTSW	2	165,654,346 (GRCm39)	missense	probably damaging	1.00
R8828:Zmynd8	UTSW	2	165,654,466 (GRCm39)	missense	probably benign	0.00
R9128:Zmynd8	UTSW	2	165,700,058 (GRCm39)	start codon destroyed	probably null
R9200:Zmynd8	UTSW	2	165,682,005 (GRCm39)	missense	probably benign
R9345:Zmynd8	UTSW	2	165,654,668 (GRCm39)	missense	possibly damaging	0.85
R9478:Zmynd8	UTSW	2	165,649,569 (GRCm39)	missense	probably damaging	1.00
R9626:Zmynd8	UTSW	2	165,654,268 (GRCm39)	critical splice donor site	probably null
R9649:Zmynd8	UTSW	2	165,680,772 (GRCm39)	missense	probably damaging	1.00
R9759:Zmynd8	UTSW	2	165,680,746 (GRCm39)	missense	possibly damaging	0.89
V7580:Zmynd8	UTSW	2	165,654,314 (GRCm39)	nonsense	probably null
V7581:Zmynd8	UTSW	2	165,654,314 (GRCm39)	nonsense	probably null
V7583:Zmynd8	UTSW	2	165,654,314 (GRCm39)	nonsense	probably null
Z1088:Zmynd8	UTSW	2	165,670,091 (GRCm39)	missense	probably benign
Z1176:Zmynd8	UTSW	2	165,670,108 (GRCm39)	missense	probably benign	0.00

Posted On

2012-10-29