Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Zmynd8'

54383

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

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165784152-165899016 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 165787158 bp (GRCm38)

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 null
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 null
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 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 null
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 null
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 null
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: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459 (GRCm38)		probably null	Het
Akap11	A	G	14: 78,510,753 (GRCm38)	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790 (GRCm38)	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791 (GRCm38)	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974 (GRCm38)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416 (GRCm38)		probably null	Het
BC117090	T	C	16: 36,323,024 (GRCm38)		probably null	Het
Bckdhb	T	G	9: 83,953,736 (GRCm38)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841 (GRCm38)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951 (GRCm38)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052 (GRCm38)	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433 (GRCm38)	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535 (GRCm38)		probably benign	Het
Cep72	A	T	13: 74,038,304 (GRCm38)	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563 (GRCm38)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715 (GRCm38)		probably benign	Het
Cysltr1	A	G	X: 106,578,655 (GRCm38)	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749 (GRCm38)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824 (GRCm38)	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356 (GRCm38)		probably null	Het
Edil3	T	C	13: 89,184,849 (GRCm38)	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082 (GRCm38)	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027 (GRCm38)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753 (GRCm38)	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603 (GRCm38)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651 (GRCm38)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228 (GRCm38)	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386 (GRCm38)		probably null	Het
Golgb1	G	T	16: 36,916,330 (GRCm38)	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305 (GRCm38)	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291 (GRCm38)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm38)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221 (GRCm38)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046 (GRCm38)	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242 (GRCm38)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074 (GRCm38)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243 (GRCm38)	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474 (GRCm38)	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557 (GRCm38)	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148 (GRCm38)	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858 (GRCm38)	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504 (GRCm38)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896 (GRCm38)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345 (GRCm38)	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757 (GRCm38)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486 (GRCm38)	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681 (GRCm38)	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196 (GRCm38)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404 (GRCm38)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777 (GRCm38)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733 (GRCm38)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196 (GRCm38)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463 (GRCm38)	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343 (GRCm38)		probably null	Het
Ranbp2	T	C	10: 58,493,898 (GRCm38)	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527 (GRCm38)	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541 (GRCm38)	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873 (GRCm38)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394 (GRCm38)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694 (GRCm38)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm38)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802 (GRCm38)	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875 (GRCm38)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559 (GRCm38)	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235 (GRCm38)	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404 (GRCm38)	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813 (GRCm38)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941 (GRCm38)	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187 (GRCm38)	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119 (GRCm38)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499 (GRCm38)	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335 (GRCm38)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536 (GRCm38)	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485 (GRCm38)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385 (GRCm38)		probably null	Het
Ttn	A	T	2: 76,796,185 (GRCm38)		probably null	Het
Ttn	A	T	2: 76,787,323 (GRCm38)	L16268Q	probably damaging	Het
Ubap2	T	A	4: 41,218,319 (GRCm38)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126 (GRCm38)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634 (GRCm38)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057 (GRCm38)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281 (GRCm38)	F62I	possibly damaging	Het

Other mutations in Zmynd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Zmynd8	APN	2	165,812,814 (GRCm38)	missense	probably damaging	1.00
IGL01311:Zmynd8	APN	2	165,805,209 (GRCm38)	missense	probably damaging	1.00
IGL02317:Zmynd8	APN	2	165,820,572 (GRCm38)	missense	possibly damaging	0.92
IGL02548:Zmynd8	APN	2	165,833,405 (GRCm38)	missense	probably damaging	1.00
IGL02798:Zmynd8	APN	2	165,852,150 (GRCm38)	critical splice acceptor site	probably null
IGL02933:Zmynd8	APN	2	165,828,318 (GRCm38)	missense	possibly damaging	0.65
cain	UTSW	2	165,858,053 (GRCm38)	critical splice donor site	probably null
F5770:Zmynd8	UTSW	2	165,812,394 (GRCm38)	nonsense	probably null
I1329:Zmynd8	UTSW	2	165,828,225 (GRCm38)	missense	probably damaging	1.00
P0031:Zmynd8	UTSW	2	165,820,698 (GRCm38)	splice site	probably benign
R0267:Zmynd8	UTSW	2	165,828,402 (GRCm38)	missense	probably damaging	1.00
R1663:Zmynd8	UTSW	2	165,807,885 (GRCm38)	missense	probably benign	0.11
R2212:Zmynd8	UTSW	2	165,815,451 (GRCm38)	missense	probably damaging	1.00
R3412:Zmynd8	UTSW	2	165,815,451 (GRCm38)	missense	probably damaging	1.00
R3413:Zmynd8	UTSW	2	165,815,451 (GRCm38)	missense	probably damaging	1.00
R3749:Zmynd8	UTSW	2	165,805,198 (GRCm38)	missense	probably damaging	1.00
R3820:Zmynd8	UTSW	2	165,815,461 (GRCm38)	nonsense	probably null
R3836:Zmynd8	UTSW	2	165,858,099 (GRCm38)	missense	probably benign	0.05
R3957:Zmynd8	UTSW	2	165,812,475 (GRCm38)	missense	probably damaging	0.99
R4379:Zmynd8	UTSW	2	165,807,938 (GRCm38)	splice site	probably null
R4526:Zmynd8	UTSW	2	165,807,607 (GRCm38)	intron	probably benign
R4739:Zmynd8	UTSW	2	165,805,329 (GRCm38)	missense	probably damaging	1.00
R4838:Zmynd8	UTSW	2	165,840,034 (GRCm38)	nonsense	probably null
R4932:Zmynd8	UTSW	2	165,834,951 (GRCm38)	missense	possibly damaging	0.90
R4933:Zmynd8	UTSW	2	165,834,951 (GRCm38)	missense	possibly damaging	0.90
R4997:Zmynd8	UTSW	2	165,792,816 (GRCm38)	missense	probably benign	0.01
R5652:Zmynd8	UTSW	2	165,807,698 (GRCm38)	missense	probably damaging	1.00
R5741:Zmynd8	UTSW	2	165,840,017 (GRCm38)	missense	probably damaging	1.00
R6008:Zmynd8	UTSW	2	165,842,787 (GRCm38)	missense	possibly damaging	0.77
R6242:Zmynd8	UTSW	2	165,898,947 (GRCm38)	missense	possibly damaging	0.91
R6332:Zmynd8	UTSW	2	165,838,852 (GRCm38)	missense	probably damaging	1.00
R6394:Zmynd8	UTSW	2	165,846,023 (GRCm38)	nonsense	probably null
R6772:Zmynd8	UTSW	2	165,807,601 (GRCm38)	missense	probably benign	0.35
R6970:Zmynd8	UTSW	2	165,875,750 (GRCm38)	missense	probably damaging	1.00
R6986:Zmynd8	UTSW	2	165,833,415 (GRCm38)	missense	probably damaging	1.00
R7229:Zmynd8	UTSW	2	165,858,053 (GRCm38)	critical splice donor site	probably null
R7266:Zmynd8	UTSW	2	165,807,572 (GRCm38)	missense	possibly damaging	0.49
R7296:Zmynd8	UTSW	2	165,840,009 (GRCm38)	missense	probably damaging	0.98
R7642:Zmynd8	UTSW	2	165,812,426 (GRCm38)	missense	probably damaging	1.00
R7818:Zmynd8	UTSW	2	165,842,831 (GRCm38)	missense	probably damaging	0.97
R7821:Zmynd8	UTSW	2	165,881,080 (GRCm38)	intron	probably benign
R8135:Zmynd8	UTSW	2	165,812,426 (GRCm38)	missense	probably damaging	1.00
R8828:Zmynd8	UTSW	2	165,812,546 (GRCm38)	missense	probably benign	0.00
R9128:Zmynd8	UTSW	2	165,858,138 (GRCm38)	start codon destroyed	probably null
R9200:Zmynd8	UTSW	2	165,840,085 (GRCm38)	missense	probably benign
R9345:Zmynd8	UTSW	2	165,812,748 (GRCm38)	missense	possibly damaging	0.85
R9478:Zmynd8	UTSW	2	165,807,649 (GRCm38)	missense	probably damaging	1.00
R9626:Zmynd8	UTSW	2	165,812,348 (GRCm38)	critical splice donor site	probably null
R9649:Zmynd8	UTSW	2	165,838,852 (GRCm38)	missense	probably damaging	1.00
R9759:Zmynd8	UTSW	2	165,838,826 (GRCm38)	missense	possibly damaging	0.89
V7580:Zmynd8	UTSW	2	165,812,394 (GRCm38)	nonsense	probably null
V7581:Zmynd8	UTSW	2	165,812,394 (GRCm38)	nonsense	probably null
V7583:Zmynd8	UTSW	2	165,812,394 (GRCm38)	nonsense	probably null
Z1088:Zmynd8	UTSW	2	165,828,171 (GRCm38)	missense	probably benign
Z1176:Zmynd8	UTSW	2	165,828,188 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTCTGAATGGCCCAACCTAC -3'
(R):5'- CACCTGTAAGCACATCCAGTCGAG -3'

Sequencing Primer
(F):5'- GCCCAACCTACAGCAGTTTG -3'
(R):5'- CAGTCGAGTGGCCTACATGAAG -3'

Posted On

2013-07-11