Mutagenetix > Incidental Mutations

Incidental Mutation 'R0132:Zmym2'

21712

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

038417-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R0132 (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 56943258 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 876 (N876D)

Ref Sequence

ENSEMBL: ENSMUSP00000022511 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022511
AA Change: N876D

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

SMART Domains

Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: N876D

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: ENSMUST00000224922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225393

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.2%
20x: 84.8%

Validation Efficiency

90% (52/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Dazap1	T	G	10: 80,278,226		probably null	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
H2-T24	T	A	17: 36,014,986	I238F	probably damaging	Het
Hectd4	A	G	5: 121,333,024	E2658G	probably benign	Het
Herc1	A	C	9: 66,480,910	I3826L	probably benign	Het
Hinfp	A	G	9: 44,299,763	C67R	probably damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Hspg2	T	C	4: 137,551,887	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,926,728	V67A	probably damaging	Het
Iqcc	T	G	4: 129,616,599	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,326,198	T120A	probably damaging	Het
Kitl	C	T	10: 100,087,364	P208S	probably benign	Het
Lpcat4	A	G	2: 112,246,748	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,553,152	N227S	probably damaging	Het
Mdc1	T	A	17: 35,852,581	V1007D	probably damaging	Het
Mocos	T	G	18: 24,679,762	I571S	probably benign	Het
Myh8	A	G	11: 67,292,188	N659D	probably damaging	Het
Naip2	A	G	13: 100,183,788	V240A	probably benign	Het
Nap1l1	T	C	10: 111,485,509	S37P	probably benign	Het
Nin	T	G	12: 70,051,141	K515T	probably damaging	Het
Npl	T	A	1: 153,509,118	K258*	probably null	Het
Ntn4	T	A	10: 93,644,707	S98T	possibly damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,722,091	F57V	probably damaging	Het
Ptprt	C	T	2: 162,278,110	V146I	probably benign	Het
R3hdm2	T	A	10: 127,498,453	M915K	probably damaging	Het
Rab26	C	T	17: 24,530,785		probably null	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Rprd2	T	C	3: 95,774,361	K407E	probably damaging	Het
Siah3	G	A	14: 75,456,134	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc25a35	A	G	11: 68,971,960	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Slc35d1	C	T	4: 103,208,181	V189I	probably benign	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tmem260	T	A	14: 48,483,322	C306*	probably null	Het
Tspyl1	A	G	10: 34,283,089	N270S	probably damaging	Het
Ugt2a2	T	A	5: 87,474,861	K293*	probably null	Het
Vmn2r102	A	C	17: 19,678,763	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,712,249	S139R	probably benign	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
R0131:Zmym2	UTSW	14	56943258	missense	probably benign
R0131: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
R5223:Zmym2	UTSW	14	56946514	missense	probably benign
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
R7932:Zmym2	UTSW	14	56946563	missense	probably benign	0.03
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'- GGACTATTGTGCAGCTCAATGTTTGCT -3'
(R):5'- TGCCTGCAAAAGCTTAGACTAAAAGGG -3'

Sequencing Primer
(F):5'- agacagaagcagaggcatc -3'
(R):5'- GGGTTAAATCTCACGCACAG -3'

Posted On

2013-04-11