Mutagenetix > Incidental Mutation

Incidental Mutation 'R4343:Zmym2'

324237

Institutional Source

Beutler Lab

Gene Symbol

Zmym2

Ensembl Gene

ENSMUSG00000021945

Gene Name

zinc finger, MYM-type 2

Synonyms

SCLL, RAMP, Zfp198, FIM, MYM

MMRRC Submission

041665-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R4343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57123986-57199815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57159019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 598 (M598K)

Ref Sequence

ENSEMBL: ENSMUSP00000022511 (fasta)

Gene Model

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

AlphaFold

Q9CU65

Predicted Effect

probably damaging
Transcript: ENSMUST00000022511
AA Change: M598K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: M598K

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd38	A	C	5: 44,026,431 (GRCm39)	I72L	probably benign	Het
Diras1	T	A	10: 80,858,018 (GRCm39)	K78*	probably null	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Gm8674	T	A	13: 50,053,742 (GRCm39)		noncoding transcript	Het
Gnal	T	C	18: 67,268,659 (GRCm39)	S182P	probably benign	Het
Grik1	T	C	16: 87,693,140 (GRCm39)	T932A	probably benign	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Lepr	G	A	4: 101,622,349 (GRCm39)		probably null	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mki67	A	G	7: 135,296,847 (GRCm39)	V2729A	probably benign	Het
Mmp20	GA	GAA	9: 7,628,346 (GRCm39)		probably null	Het
Myo7b	A	G	18: 32,116,680 (GRCm39)	F976L	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Npc1l1	G	A	11: 6,167,773 (GRCm39)	T1006I	probably benign	Het
Or5g9	T	A	2: 85,552,592 (GRCm39)	V281E	probably damaging	Het
Plekha5	A	G	6: 140,501,780 (GRCm39)	E656G	probably damaging	Het
Prep	C	A	10: 44,996,866 (GRCm39)	S381R	probably damaging	Het
Rab31	C	T	17: 65,961,414 (GRCm39)	R192H	probably benign	Het
Rbm5	T	C	9: 107,629,395 (GRCm39)	D319G	probably damaging	Het
Rexo2	T	C	9: 48,380,148 (GRCm39)	E228G	possibly damaging	Het
Rrn3	A	G	16: 13,601,986 (GRCm39)	D80G	probably benign	Het
Slc38a3	A	G	9: 107,533,671 (GRCm39)	V224A	possibly damaging	Het
Slc66a2	A	G	18: 80,327,004 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 178,022,740 (GRCm39)	T464A	probably damaging	Het
Tpcn1	A	T	5: 120,698,285 (GRCm39)	L79H	probably damaging	Het
Trim30a	T	C	7: 104,084,799 (GRCm39)	Q137R	probably benign	Het
Tyrp1	A	G	4: 80,768,078 (GRCm39)	D92G	possibly damaging	Het
Ugt1a6a	T	C	1: 88,066,248 (GRCm39)	L18P	probably damaging	Het
Ugt2b5	A	T	5: 87,287,582 (GRCm39)	V195E	probably damaging	Het

Other mutations in Zmym2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Zmym2	APN	14	57,185,394 (GRCm39)	splice site	probably benign
IGL00587:Zmym2	APN	14	57,140,817 (GRCm39)	missense	possibly damaging	0.86
IGL00736:Zmym2	APN	14	57,140,668 (GRCm39)	missense	probably benign	0.01
IGL00753:Zmym2	APN	14	57,194,517 (GRCm39)	nonsense	probably null
IGL01608:Zmym2	APN	14	57,185,472 (GRCm39)	missense	possibly damaging	0.57
IGL01744:Zmym2	APN	14	57,184,029 (GRCm39)	missense	probably benign	0.24
IGL02150:Zmym2	APN	14	57,148,526 (GRCm39)	splice site	probably benign
IGL02186:Zmym2	APN	14	57,180,808 (GRCm39)	missense	probably benign	0.09
IGL02654:Zmym2	APN	14	57,148,772 (GRCm39)	missense	probably damaging	1.00
IGL02960:Zmym2	APN	14	57,175,870 (GRCm39)	missense	probably benign	0.09
IGL03104:Zmym2	APN	14	57,187,784 (GRCm39)	missense	possibly damaging	0.88
IGL03162:Zmym2	APN	14	57,151,500 (GRCm39)	missense	probably benign	0.24
IGL03356:Zmym2	APN	14	57,194,517 (GRCm39)	nonsense	probably null
IGL03412:Zmym2	APN	14	57,197,176 (GRCm39)	nonsense	probably null
R5038_Zmym2_756	UTSW	14	57,193,637 (GRCm39)	missense	possibly damaging	0.86
R0131:Zmym2	UTSW	14	57,180,715 (GRCm39)	missense	probably benign
R0131:Zmym2	UTSW	14	57,180,715 (GRCm39)	missense	probably benign
R0132:Zmym2	UTSW	14	57,180,715 (GRCm39)	missense	probably benign
R0270:Zmym2	UTSW	14	57,187,141 (GRCm39)	splice site	probably null
R0834:Zmym2	UTSW	14	57,194,420 (GRCm39)	missense	probably damaging	1.00
R1071:Zmym2	UTSW	14	57,197,278 (GRCm39)	missense	possibly damaging	0.93
R1386:Zmym2	UTSW	14	57,150,548 (GRCm39)	missense	probably damaging	1.00
R1442:Zmym2	UTSW	14	57,180,784 (GRCm39)	missense	probably damaging	0.99
R1472:Zmym2	UTSW	14	57,148,640 (GRCm39)	missense	probably benign	0.20
R1595:Zmym2	UTSW	14	57,158,187 (GRCm39)	missense	probably benign	0.25
R1598:Zmym2	UTSW	14	57,151,524 (GRCm39)	missense	probably damaging	1.00
R1598:Zmym2	UTSW	14	57,140,226 (GRCm39)	missense	possibly damaging	0.94
R1916:Zmym2	UTSW	14	57,197,299 (GRCm39)	missense	probably damaging	1.00
R2261:Zmym2	UTSW	14	57,165,719 (GRCm39)	missense	probably damaging	1.00
R2393:Zmym2	UTSW	14	57,158,180 (GRCm39)	missense	probably benign	0.17
R2866:Zmym2	UTSW	14	57,165,705 (GRCm39)	missense	probably damaging	1.00
R3727:Zmym2	UTSW	14	57,156,806 (GRCm39)	splice site	probably benign
R3847:Zmym2	UTSW	14	57,158,956 (GRCm39)	splice site	probably benign
R4043:Zmym2	UTSW	14	57,195,765 (GRCm39)	splice site	probably benign
R4074:Zmym2	UTSW	14	57,140,461 (GRCm39)	missense	probably damaging	0.99
R4420:Zmym2	UTSW	14	57,194,335 (GRCm39)	missense	probably damaging	0.98
R4645:Zmym2	UTSW	14	57,165,764 (GRCm39)	missense	probably damaging	1.00
R5015:Zmym2	UTSW	14	57,159,051 (GRCm39)	missense	probably damaging	1.00
R5038:Zmym2	UTSW	14	57,193,637 (GRCm39)	missense	possibly damaging	0.86
R5223:Zmym2	UTSW	14	57,183,971 (GRCm39)	missense	probably benign
R5364:Zmym2	UTSW	14	57,158,102 (GRCm39)	missense	possibly damaging	0.58
R5488:Zmym2	UTSW	14	57,193,712 (GRCm39)	missense	possibly damaging	0.56
R5489:Zmym2	UTSW	14	57,193,712 (GRCm39)	missense	possibly damaging	0.56
R5818:Zmym2	UTSW	14	57,183,986 (GRCm39)	missense	probably benign
R6160:Zmym2	UTSW	14	57,187,766 (GRCm39)	missense	probably damaging	1.00
R6437:Zmym2	UTSW	14	57,140,461 (GRCm39)	missense	probably damaging	1.00
R7107:Zmym2	UTSW	14	57,140,169 (GRCm39)	missense	probably benign	0.01
R7153:Zmym2	UTSW	14	57,187,659 (GRCm39)	missense	probably benign	0.16
R7337:Zmym2	UTSW	14	57,181,557 (GRCm39)	missense	probably benign	0.04
R7535:Zmym2	UTSW	14	57,194,536 (GRCm39)	missense	probably damaging	1.00
R7730:Zmym2	UTSW	14	57,193,638 (GRCm39)	missense	possibly damaging	0.95
R7779:Zmym2	UTSW	14	57,165,740 (GRCm39)	missense	probably damaging	1.00
R7849:Zmym2	UTSW	14	57,184,020 (GRCm39)	missense	probably benign	0.03
R8219:Zmym2	UTSW	14	57,163,316 (GRCm39)	missense	probably benign	0.07
R8493:Zmym2	UTSW	14	57,151,606 (GRCm39)	missense	probably damaging	1.00
R8885:Zmym2	UTSW	14	57,185,329 (GRCm39)	intron	probably benign
R9162:Zmym2	UTSW	14	57,163,361 (GRCm39)	missense	probably benign	0.02
R9165:Zmym2	UTSW	14	57,185,464 (GRCm39)	missense	probably damaging	0.98
R9250:Zmym2	UTSW	14	57,148,732 (GRCm39)	missense	probably damaging	1.00
R9453:Zmym2	UTSW	14	57,180,770 (GRCm39)	missense	probably damaging	1.00
R9677:Zmym2	UTSW	14	57,187,115 (GRCm39)	missense	probably benign	0.01
Z1176:Zmym2	UTSW	14	57,150,456 (GRCm39)	missense	possibly damaging	0.94
Z1177:Zmym2	UTSW	14	57,151,419 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTTTGTTTTAGGTAATTTGACAGC -3'
(R):5'- CTCTACCCTCTCATCAGGCA -3'

Sequencing Primer
(F):5'- TGGAACTCACTTTGTAGACCACG -3'
(R):5'- TCATCAGGCACTCAACAAATTAAAAG -3'

Posted On

2015-06-24