Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Zmynd8'

505276

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

044434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165626072-165740896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 165740867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 6 (R6C)

Ref Sequence

ENSEMBL: ENSMUSP00000120631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109262] [ENSMUST00000136842]

AlphaFold

A2A484

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

possibly damaging
Transcript: ENSMUST00000136842
AA Change: R6C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120631
Gene: ENSMUSG00000039671
AA Change: R6C

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,501,896 (GRCm39)	C239*	probably null	Het
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Or5b106	T	A	19: 13,123,450 (GRCm39)	H191L	probably benign	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pde1a	T	A	2: 79,959,136 (GRCm39)	T15S	probably benign	Het
Pgr	T	A	9: 8,900,980 (GRCm39)	I171N	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slc6a4	A	T	11: 76,909,184 (GRCm39)	K399*	probably null	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tab1	A	T	15: 80,039,971 (GRCm39)	K264*	probably null	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	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
P0031:Zmynd8	UTSW	2	165,662,618 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGCGAGCAACTTGATCAC -3'
(R):5'- AGAATTTGAGACGGACGCCC -3'

Sequencing Primer
(F):5'- TTGATCACAAAATCAGAGCCTCTC -3'
(R):5'- ACGCCCGAGAACAAAGG -3'

Posted On

2018-02-28