Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Zmym2'

402456

Institutional Source

Beutler Lab

Gene Symbol

Zmym2

Ensembl Gene

ENSMUSG00000021945

Gene Name

zinc finger, MYM-type 2

Synonyms

RAMP, FIM, MYM, Zfp198, SCLL

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56886653-56962701 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56946514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 978 (I978V)

Ref Sequence

ENSEMBL: ENSMUSP00000022511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022511]

AlphaFold

Q9CU65

Predicted Effect

probably benign
Transcript: ENSMUST00000022511
AA Change: I978V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: I978V

Domain	Start	End	E-Value	Type
TRASH	330	366	1.55e-5	SMART
TRASH	372	412	7.69e-1	SMART
TRASH	424	459	7.5e1	SMART
TRASH	466	505	6.53e-4	SMART
Pfam:zf-FCS	527	569	1.8e-9	PFAM
TRASH	583	619	4.79e1	SMART
TRASH	638	674	8.49e-3	SMART
TRASH	680	715	7.28e-2	SMART
TRASH	726	761	1.95e-2	SMART
TRASH	767	802	3.89e1	SMART
low complexity region	881	895	N/A	INTRINSIC
low complexity region	904	917	N/A	INTRINSIC
low complexity region	1087	1111	N/A	INTRINSIC
Pfam:DUF3504	1191	1359	7.3e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226025

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that contains nine MYM-type zinc finger motifs. Expression of this gene may mediate the inhibition of hematopoietic cell development during ontogeny, and the encoded protein may also play a role in transforming growth factor-beta signaling as a Smad binding protein. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het

Other mutations in Zmym2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Zmym2	APN	14	56947937	splice site	probably benign
IGL00587:Zmym2	APN	14	56903360	missense	possibly damaging	0.86
IGL00736:Zmym2	APN	14	56903211	missense	probably benign	0.01
IGL00753:Zmym2	APN	14	56957060	nonsense	probably null
IGL01608:Zmym2	APN	14	56948015	missense	possibly damaging	0.57
IGL01744:Zmym2	APN	14	56946572	missense	probably benign	0.24
IGL02150:Zmym2	APN	14	56911069	splice site	probably benign
IGL02186:Zmym2	APN	14	56943351	missense	probably benign	0.09
IGL02654:Zmym2	APN	14	56911315	missense	probably damaging	1.00
IGL02960:Zmym2	APN	14	56938413	missense	probably benign	0.09
IGL03104:Zmym2	APN	14	56950327	missense	possibly damaging	0.88
IGL03162:Zmym2	APN	14	56914043	missense	probably benign	0.24
IGL03356:Zmym2	APN	14	56957060	nonsense	probably null
IGL03412:Zmym2	APN	14	56959719	nonsense	probably null
R5038_Zmym2_756	UTSW	14	56956180	missense	possibly damaging	0.86
R0131:Zmym2	UTSW	14	56943258	missense	probably benign
R0131:Zmym2	UTSW	14	56943258	missense	probably benign
R0132:Zmym2	UTSW	14	56943258	missense	probably benign
R0270:Zmym2	UTSW	14	56949684	splice site	probably null
R0834:Zmym2	UTSW	14	56956963	missense	probably damaging	1.00
R1071:Zmym2	UTSW	14	56959821	missense	possibly damaging	0.93
R1386:Zmym2	UTSW	14	56913091	missense	probably damaging	1.00
R1442:Zmym2	UTSW	14	56943327	missense	probably damaging	0.99
R1472:Zmym2	UTSW	14	56911183	missense	probably benign	0.20
R1595:Zmym2	UTSW	14	56920730	missense	probably benign	0.25
R1598:Zmym2	UTSW	14	56902769	missense	possibly damaging	0.94
R1598:Zmym2	UTSW	14	56914067	missense	probably damaging	1.00
R1916:Zmym2	UTSW	14	56959842	missense	probably damaging	1.00
R2261:Zmym2	UTSW	14	56928262	missense	probably damaging	1.00
R2393:Zmym2	UTSW	14	56920723	missense	probably benign	0.17
R2866:Zmym2	UTSW	14	56928248	missense	probably damaging	1.00
R3727:Zmym2	UTSW	14	56919349	splice site	probably benign
R3847:Zmym2	UTSW	14	56921499	splice site	probably benign
R4043:Zmym2	UTSW	14	56958308	splice site	probably benign
R4074:Zmym2	UTSW	14	56903004	missense	probably damaging	0.99
R4343:Zmym2	UTSW	14	56921562	missense	probably damaging	0.99
R4420:Zmym2	UTSW	14	56956878	missense	probably damaging	0.98
R4645:Zmym2	UTSW	14	56928307	missense	probably damaging	1.00
R5015:Zmym2	UTSW	14	56921594	missense	probably damaging	1.00
R5038:Zmym2	UTSW	14	56956180	missense	possibly damaging	0.86
R5364:Zmym2	UTSW	14	56920645	missense	possibly damaging	0.58
R5488:Zmym2	UTSW	14	56956255	missense	possibly damaging	0.56
R5489:Zmym2	UTSW	14	56956255	missense	possibly damaging	0.56
R5818:Zmym2	UTSW	14	56946529	missense	probably benign
R6160:Zmym2	UTSW	14	56950309	missense	probably damaging	1.00
R6437:Zmym2	UTSW	14	56903004	missense	probably damaging	1.00
R7107:Zmym2	UTSW	14	56902712	missense	probably benign	0.01
R7153:Zmym2	UTSW	14	56950202	missense	probably benign	0.16
R7337:Zmym2	UTSW	14	56944100	missense	probably benign	0.04
R7535:Zmym2	UTSW	14	56957079	missense	probably damaging	1.00
R7730:Zmym2	UTSW	14	56956181	missense	possibly damaging	0.95
R7779:Zmym2	UTSW	14	56928283	missense	probably damaging	1.00
R7849:Zmym2	UTSW	14	56946563	missense	probably benign	0.03
R8219:Zmym2	UTSW	14	56925859	missense	probably benign	0.07
R8493:Zmym2	UTSW	14	56914149	missense	probably damaging	1.00
R8885:Zmym2	UTSW	14	56947872	intron	probably benign
R9162:Zmym2	UTSW	14	56925904	missense	probably benign	0.02
R9165:Zmym2	UTSW	14	56948007	missense	probably damaging	0.98
R9250:Zmym2	UTSW	14	56911275	missense	probably damaging	1.00
R9453:Zmym2	UTSW	14	56943313	missense	probably damaging	1.00
R9677:Zmym2	UTSW	14	56949658	missense	probably benign	0.01
Z1176:Zmym2	UTSW	14	56912999	missense	possibly damaging	0.94
Z1177:Zmym2	UTSW	14	56913962	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTTGAAAGGGGATAGCCAG -3'
(R):5'- TCCTCTACTGCAAAGGACACATG -3'

Sequencing Primer
(F):5'- TGAAAGGGGATAGCCAGAATATATAG -3'
(R):5'- ACAAGAAGTGATGATATAAACACTGC -3'

Posted On

2016-07-22