Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Zmynd8'

380701

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

042533-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165784152-165899016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165834951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000120932 (fasta)

Gene Model

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

AlphaFold

A2A484

Predicted Effect

probably benign
Transcript: ENSMUST00000018050
AA Change: V254A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: V254A

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
AA Change: V249A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: V249A

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
AA Change: V229A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: V229A

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
AA Change: V229A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671
AA Change: V229A

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: ENSMUST00000109266
AA Change: V274A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: V274A

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
AA Change: V258A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: V258A

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: ENSMUST00000149369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152682

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153655
AA Change: V249A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: V249A

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
AA Change: V229A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: V229A

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
AA Change: V249A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: V249A

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

0.2214

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably 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
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
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
R9478:Zmynd8	UTSW	2	165807649	missense	probably damaging	1.00
R9626:Zmynd8	UTSW	2	165812348	critical splice donor site	probably null
R9649:Zmynd8	UTSW	2	165838852	missense	probably damaging	1.00
R9759:Zmynd8	UTSW	2	165838826	missense	possibly damaging	0.89
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'- ATTAGAGCTTCCCAGTCTCGTC -3'
(R):5'- TGCCTGCCCTGTAATACAAAAGAAG -3'

Sequencing Primer
(F):5'- TCTCGTAAGTCCCCGGAGAG -3'
(R):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'

Posted On

2016-04-15