Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02579:Zfpm2'

299306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfpm2

Ensembl Gene

ENSMUSG00000022306

Gene Name

zinc finger protein, multitype 2

Synonyms

FOG2, B330005D23Rik, FOG-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02579

Quality Score

Status

Chromosome

Chromosomal Location

40518438-40967988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40962868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 177 (N177Y)

Ref Sequence

ENSEMBL: ENSMUSP00000155094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053467] [ENSMUST00000230319]

AlphaFold

Q8CCH7

Predicted Effect

probably benign
Transcript: ENSMUST00000053467
AA Change: N309Y

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: N309Y

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
ZnF_C2H2	250	270	4.27e1	SMART
ZnF_C2H2	296	320	1.25e-1	SMART
ZnF_C2H2	335	357	4.05e-1	SMART
ZnF_C2H2	363	385	6.23e-2	SMART
ZnF_C2H2	548	569	1.43e1	SMART
ZnF_C2H2	687	714	1.06e2	SMART
low complexity region	731	741	N/A	INTRINSIC
ZnF_C2H2	854	874	5.4e1	SMART
ZnF_C2H2	1119	1145	4.99e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230319
AA Change: N177Y

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,005,537 (GRCm39)	E1140G	probably damaging	Het
Alcam	T	C	16: 52,091,135 (GRCm39)	E461G	probably damaging	Het
Bahcc1	A	G	11: 120,176,175 (GRCm39)		probably benign	Het
Calhm6	C	A	10: 34,003,423 (GRCm39)	M161I	probably benign	Het
Dnmt1	A	G	9: 20,829,416 (GRCm39)	M729T	possibly damaging	Het
Enpep	G	A	3: 129,077,739 (GRCm39)	T626M	probably benign	Het
Gje1	A	T	10: 14,592,492 (GRCm39)	C97S	probably benign	Het
Igkv4-58	T	A	6: 69,477,385 (GRCm39)	I71F	probably damaging	Het
Itfg1	G	A	8: 86,507,194 (GRCm39)	T222M	possibly damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mtmr6	T	A	14: 60,519,378 (GRCm39)		probably benign	Het
Nwd1	A	T	8: 73,434,155 (GRCm39)	I1251F	probably damaging	Het
Or5b101	T	C	19: 13,004,892 (GRCm39)	D267G	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pold1	T	C	7: 44,192,703 (GRCm39)	E53G	probably damaging	Het
Prkdc	A	T	16: 15,488,465 (GRCm39)	D529V	possibly damaging	Het
Rgl2	A	G	17: 34,156,134 (GRCm39)	T741A	probably benign	Het
Tex44	A	G	1: 86,354,169 (GRCm39)	N26S	probably benign	Het
Traf5	G	T	1: 191,731,848 (GRCm39)	P28Q	probably damaging	Het
Ttn	A	G	2: 76,589,433 (GRCm39)	Y21274H	probably damaging	Het
Vmn2r76	T	A	7: 85,877,961 (GRCm39)	K479*	probably null	Het
Zfp322a	A	T	13: 23,541,613 (GRCm39)	V43E	probably damaging	Het
Zfp385c	C	A	11: 100,521,605 (GRCm39)	G152C	probably damaging	Het

Other mutations in Zfpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Zfpm2	APN	15	40,962,683 (GRCm39)	missense	probably damaging	1.00
IGL00815:Zfpm2	APN	15	40,962,887 (GRCm39)	missense	probably benign	0.37
IGL00821:Zfpm2	APN	15	40,966,783 (GRCm39)	missense	probably damaging	1.00
IGL01622:Zfpm2	APN	15	40,965,320 (GRCm39)	missense	probably benign	0.07
IGL01623:Zfpm2	APN	15	40,965,320 (GRCm39)	missense	probably benign	0.07
IGL01807:Zfpm2	APN	15	40,616,452 (GRCm39)	critical splice donor site	probably null
IGL01872:Zfpm2	APN	15	40,965,783 (GRCm39)	missense	probably benign
IGL02087:Zfpm2	APN	15	40,966,517 (GRCm39)	missense	probably damaging	0.97
IGL02123:Zfpm2	APN	15	40,965,591 (GRCm39)	missense	probably damaging	1.00
IGL02355:Zfpm2	APN	15	40,962,890 (GRCm39)	missense	probably damaging	1.00
IGL02362:Zfpm2	APN	15	40,962,890 (GRCm39)	missense	probably damaging	1.00
IGL02752:Zfpm2	APN	15	40,965,415 (GRCm39)	missense	probably benign	0.23
IGL02792:Zfpm2	APN	15	40,966,409 (GRCm39)	missense	probably benign	0.00
IGL02861:Zfpm2	APN	15	40,966,662 (GRCm39)	missense	probably damaging	0.98
IGL03180:Zfpm2	APN	15	40,964,790 (GRCm39)	missense	probably damaging	1.00
IGL03344:Zfpm2	APN	15	40,966,170 (GRCm39)	missense	probably benign
R0305:Zfpm2	UTSW	15	40,637,431 (GRCm39)	splice site	probably benign
R0365:Zfpm2	UTSW	15	40,637,462 (GRCm39)	missense	possibly damaging	0.88
R1171:Zfpm2	UTSW	15	40,965,075 (GRCm39)	missense	probably damaging	1.00
R1456:Zfpm2	UTSW	15	40,965,877 (GRCm39)	missense	probably damaging	1.00
R1482:Zfpm2	UTSW	15	40,962,687 (GRCm39)	missense	probably damaging	1.00
R1580:Zfpm2	UTSW	15	40,966,605 (GRCm39)	missense	possibly damaging	0.84
R2119:Zfpm2	UTSW	15	40,966,419 (GRCm39)	missense	probably damaging	1.00
R2189:Zfpm2	UTSW	15	40,964,579 (GRCm39)	missense	possibly damaging	0.76
R2867:Zfpm2	UTSW	15	40,962,785 (GRCm39)	missense	probably benign	0.06
R2867:Zfpm2	UTSW	15	40,962,785 (GRCm39)	missense	probably benign	0.06
R2886:Zfpm2	UTSW	15	40,965,719 (GRCm39)	missense	probably benign	0.44
R3024:Zfpm2	UTSW	15	40,966,355 (GRCm39)	missense	probably benign	0.00
R4043:Zfpm2	UTSW	15	40,734,023 (GRCm39)	missense	possibly damaging	0.94
R4178:Zfpm2	UTSW	15	40,966,940 (GRCm39)	missense	probably damaging	1.00
R4465:Zfpm2	UTSW	15	40,959,557 (GRCm39)	missense	probably benign	0.00
R5263:Zfpm2	UTSW	15	40,962,791 (GRCm39)	missense	probably benign	0.45
R5266:Zfpm2	UTSW	15	40,962,865 (GRCm39)	missense	probably benign	0.01
R5352:Zfpm2	UTSW	15	40,733,938 (GRCm39)	missense	probably benign	0.01
R5584:Zfpm2	UTSW	15	40,965,933 (GRCm39)	missense	probably benign	0.45
R5661:Zfpm2	UTSW	15	40,959,467 (GRCm39)	nonsense	probably null
R6437:Zfpm2	UTSW	15	40,962,793 (GRCm39)	missense	probably benign
R6660:Zfpm2	UTSW	15	40,518,981 (GRCm39)	critical splice donor site	probably null
R6742:Zfpm2	UTSW	15	40,965,114 (GRCm39)	missense	probably benign
R6749:Zfpm2	UTSW	15	40,818,104 (GRCm39)	missense	possibly damaging	0.90
R7363:Zfpm2	UTSW	15	40,616,413 (GRCm39)	missense	probably damaging	1.00
R7401:Zfpm2	UTSW	15	40,966,386 (GRCm39)	missense	possibly damaging	0.87
R7657:Zfpm2	UTSW	15	40,966,671 (GRCm39)	missense	possibly damaging	0.78
R7690:Zfpm2	UTSW	15	40,818,162 (GRCm39)	missense	possibly damaging	0.45
R7698:Zfpm2	UTSW	15	40,959,487 (GRCm39)	missense	probably benign	0.03
R7893:Zfpm2	UTSW	15	40,966,008 (GRCm39)	missense	probably damaging	1.00
R8081:Zfpm2	UTSW	15	40,965,644 (GRCm39)	missense	probably damaging	1.00
R8223:Zfpm2	UTSW	15	40,616,355 (GRCm39)	missense	probably benign	0.34
R9028:Zfpm2	UTSW	15	40,966,758 (GRCm39)	missense	possibly damaging	0.87
R9065:Zfpm2	UTSW	15	40,962,712 (GRCm39)	missense	possibly damaging	0.95
R9234:Zfpm2	UTSW	15	40,966,470 (GRCm39)	missense	probably damaging	1.00
R9474:Zfpm2	UTSW	15	40,966,867 (GRCm39)	missense	probably damaging	1.00
R9694:Zfpm2	UTSW	15	40,965,710 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16