Mutagenetix > Incidental Mutations

Incidental Mutation 'R6986:Zmynd8'

542952

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 #

R6986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165784152-165899016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 165833415 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 273 (H273N)

Ref Sequence

ENSEMBL: ENSMUSP00000136211 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000018050
AA Change: H278N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: H278N

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 damaging
Transcript: ENSMUST00000088113
AA Change: H273N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: H273N

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 damaging
Transcript: ENSMUST00000099084
AA Change: H253N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: H253N

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 damaging
Transcript: ENSMUST00000109262
AA Change: H253N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671
AA Change: H253N

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 damaging
Transcript: ENSMUST00000109266
AA Change: H298N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: H298N

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 damaging
Transcript: ENSMUST00000109269
AA Change: H282N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: H282N

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 damaging
Transcript: ENSMUST00000153655
AA Change: H273N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: H273N

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 damaging
Transcript: ENSMUST00000170272
AA Change: H253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: H253N

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 damaging
Transcript: ENSMUST00000177633
AA Change: H273N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: H273N

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.1%

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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,311,577	N482D	probably damaging	Het
Agbl3	A	G	6: 34,839,452	K766E	probably benign	Het
Aldh3a1	T	A	11: 61,214,251	I154N	probably damaging	Het
Cdca2	C	T	14: 67,694,997	V486I	probably benign	Het
Celf3	G	C	3: 94,487,717	A313P	possibly damaging	Het
Cgrrf1	T	C	14: 46,832,129		probably benign	Het
Chd7	T	A	4: 8,859,285	N2458K	possibly damaging	Het
Chrna5	T	A	9: 55,006,457	M429K	possibly damaging	Het
Cux2	A	T	5: 121,868,579	L876Q	possibly damaging	Het
Cyb5rl	T	A	4: 107,070,876	S3T	probably benign	Het
Ehd4	A	T	2: 120,097,090	M321K	probably damaging	Het
Ell2	C	A	13: 75,761,887	L119M	probably damaging	Het
Endod1	T	C	9: 14,357,310	E293G	probably damaging	Het
Fam205c	A	G	4: 42,868,696	V309A	possibly damaging	Het
Fat3	G	A	9: 16,021,335	T1434I	probably damaging	Het
Flrt2	T	A	12: 95,780,685	I599N	probably damaging	Het
Gm6370	T	A	5: 146,493,588		probably null	Het
Gm7247	T	C	14: 51,365,375	M56T	possibly damaging	Het
Herc2	G	A	7: 56,106,453	R747H	possibly damaging	Het
Hist1h3g	A	G	13: 23,535,433		probably benign	Het
Ints8	T	C	4: 11,204,474	Y994C	probably damaging	Het
Irf1	A	G	11: 53,774,140	T165A	probably damaging	Het
Lgr6	G	T	1: 134,993,956	Q217K	possibly damaging	Het
Lrrc36	T	C	8: 105,458,447	S619P	probably damaging	Het
Marc2	T	C	1: 184,841,263	H53R	probably benign	Het
Morn4	T	C	19: 42,078,014	N45D	possibly damaging	Het
Mtmr3	T	C	11: 4,489,692	T583A	probably damaging	Het
Ncdn	A	G	4: 126,747,229	Y493H	probably damaging	Het
Nckap1	T	A	2: 80,520,567	Y726F	probably benign	Het
Olfr225	A	G	11: 59,614,098	K378R	possibly damaging	Het
Olfr822	G	A	10: 130,075,330	V307M	possibly damaging	Het
Optc	T	A	1: 133,897,964	M275L	probably benign	Het
Perm1	A	T	4: 156,218,519	K507*	probably null	Het
Pgbd5	C	T	8: 124,384,473	E160K	possibly damaging	Het
Polr2k	C	A	15: 36,175,035	P14T	probably benign	Het
Ppp2r3d	A	T	9: 124,439,080	Y112*	probably null	Het
Pramef17	T	A	4: 143,993,318	D159V	probably damaging	Het
Rnase9	T	C	14: 51,039,080	N147S	probably benign	Het
Rnls	C	T	19: 33,382,381	G11D	probably damaging	Het
Sbf2	T	C	7: 110,330,615	T333A	probably damaging	Het
Scn3a	A	T	2: 65,508,618	N572K	probably damaging	Het
Serinc3	A	G	2: 163,627,971	L319P	probably benign	Het
Setbp1	T	C	18: 78,857,839	D871G	probably damaging	Het
Sf3b2	T	C	19: 5,279,895	T661A	probably benign	Het
Sgsm2	T	A	11: 74,892,041	R30W	probably damaging	Het
Sh3tc1	A	G	5: 35,723,944	S52P	probably benign	Het
Smox	C	T	2: 131,522,111	A45V	possibly damaging	Het
Snrpa	A	T	7: 27,192,964	M57K	probably damaging	Het
Srbd1	A	T	17: 85,985,222	I973N	probably damaging	Het
Srp72	T	A	5: 76,994,876	S428T	probably benign	Het
Ss18l2	A	G	9: 121,712,605	Y50C	probably damaging	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmc1	T	C	19: 20,824,283	N460D	probably benign	Het
Tnni3k	C	T	3: 154,961,864	G280R	probably damaging	Het
Trpc3	A	G	3: 36,655,016		probably null	Het
Tshr	C	T	12: 91,533,957	A152V	probably damaging	Het
Tuft1	G	A	3: 94,614,154	P358S	probably damaging	Het
Vmn2r120	A	T	17: 57,509,340	S672T	probably damaging	Het
Vmn2r83	G	T	10: 79,480,259	E496D	probably benign	Het
Vmn2r91	A	G	17: 18,136,009	N646S	probably benign	Het
Zfp9	A	G	6: 118,464,465	V412A	possibly damaging	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
R7229:Zmynd8	UTSW	2	165858053	critical splice donor site	probably null
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
R7818:Zmynd8	UTSW	2	165842831	missense	probably damaging	0.97
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'- GCCACCTTCACTCTGTGATG -3'
(R):5'- CCAGGACCCAAGCCTTATTC -3'

Sequencing Primer
(F):5'- CTGTGATGGCATTCTCCAAAG -3'
(R):5'- GCTTGCTTTGTAAATACACCCAGGAC -3'

Posted On

2018-11-28