Mutagenetix > Incidental Mutations

Incidental Mutation 'R6970:Zmynd8'

542161

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 #

R6970 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

165784152-165899016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165875750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 14 (E14K)

Ref Sequence

ENSEMBL: ENSMUSP00000085436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109262] [ENSMUST00000109269] [ENSMUST00000136842] [ENSMUST00000144530] [ENSMUST00000153655] [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 damaging
Transcript: ENSMUST00000088113
AA Change: E14K

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

SMART Domains

Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: E14K

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 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

possibly damaging
Transcript: ENSMUST00000136842
AA Change: E25K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120631
Gene: ENSMUSG00000039671
AA Change: E25K

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 damaging
Transcript: ENSMUST00000153655
AA Change: E10K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: E10K

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 damaging
Transcript: ENSMUST00000177633
AA Change: E14K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: E14K

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: 99.2%
20x: 97.2%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	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
cain	UTSW	2	165858053	critical splice donor site	probably null
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
R6986:Zmynd8	UTSW	2	165833415	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
R7821:Zmynd8	UTSW	2	165881080	intron	probably benign
R8135:Zmynd8	UTSW	2	165812426	missense	probably damaging	1.00
R8828:Zmynd8	UTSW	2	165812546	missense	probably benign	0.00
R9128:Zmynd8	UTSW	2	165858138	start codon destroyed	probably null
R9200:Zmynd8	UTSW	2	165840085	missense	probably benign
R9345:Zmynd8	UTSW	2	165812748	missense	possibly damaging	0.85
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
Z1176:Zmynd8	UTSW	2	165828188	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTAGACTGAACCATGTCTCCAG -3'
(R):5'- TGCACTTGGTTGAAGTCAGG -3'

Sequencing Primer
(F):5'- ATGTCTCCAGAAATTAGGTCCATCC -3'
(R):5'- TGAAGTCAGGTGTGTCCCCTC -3'

Posted On

2018-11-28