Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Zmym2'

696019

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

068945-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57123986-57199815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57185464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1032 (Y1032F)

Ref Sequence

ENSEMBL: ENSMUSP00000022511 (fasta)

Gene Model

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

AlphaFold

Q9CU65

Predicted Effect

probably damaging
Transcript: ENSMUST00000022511
AA Change: Y1032F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: Y1032F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bnc2	A	T	4: 84,329,731 (GRCm39)	L95Q		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cep104	T	A	4: 154,078,971 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
F10	T	C	8: 13,089,564 (GRCm39)	F60L	probably benign	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sanbr	T	C	11: 23,565,244 (GRCm39)	I248V	probably benign	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,666,676 (GRCm39)	R580L	probably benign	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vps33b	G	A	7: 79,924,434 (GRCm39)		probably null	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly 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
R4343:Zmym2	UTSW	14	57,159,019 (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
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'- TTGTGCCTATCCTAGCAGAAAC -3'
(R):5'- TGCTTACAGGTATGTGCCAC -3'

Sequencing Primer
(F):5'- GTGCCTATCCTAGCAGAAACTTATC -3'
(R):5'- ACAGGTATGTGCCACTATGC -3'

Posted On

2022-02-07