Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Zmym2'

316484

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

040855-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56886653-56962701 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56903004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 100 (L100P)

Ref Sequence

ENSEMBL: ENSMUSP00000152925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022511] [ENSMUST00000223669]

AlphaFold

Q9CU65

Predicted Effect

probably benign
Transcript: ENSMUST00000022511
AA Change: L100P

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

SMART Domains

Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: L100P

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

probably damaging
Transcript: ENSMUST00000223669
AA Change: L100P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	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
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
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'- ATGGCAACTAGTCTCACGAACG -3'
(R):5'- TGGAACTGGAGAAATCCACATC -3'

Sequencing Primer
(F):5'- GGAAATTCATTTAGTGGCCCACC -3'
(R):5'- GAACTGGAGAAATCCACATCATTAG -3'

Posted On

2015-05-15