Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Zfpm2'

686900

Institutional Source

Beutler Lab

Gene Symbol

Zfpm2

Ensembl Gene

ENSMUSG00000022306

Gene Name

zinc finger protein, multitype 2

Synonyms

FOG2, B330005D23Rik, FOG-2

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40518438-40967988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40966758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 1081 (E1081A)

Ref Sequence

ENSEMBL: ENSMUSP00000051335 (fasta)

Gene Model

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

AlphaFold

Q8CCH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053467
AA Change: E1081A

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: E1081A

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: E949A

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,023,977 (GRCm39)	V1066A	probably damaging	Het
Abca5	T	A	11: 110,188,904 (GRCm39)	H851L	probably damaging	Het
Actn2	T	C	13: 12,315,864 (GRCm39)	I218M	possibly damaging	Het
Afmid	G	A	11: 117,727,489 (GRCm39)	E338K	probably benign	Het
Amer3	G	A	1: 34,627,758 (GRCm39)	V666I	probably benign	Het
Apol7b	A	G	15: 77,307,616 (GRCm39)	V293A	probably damaging	Het
Bag6	T	A	17: 35,363,130 (GRCm39)	S657T	probably benign	Het
Btaf1	T	C	19: 36,946,508 (GRCm39)	L438P	probably damaging	Het
Cdc20	T	C	4: 118,293,757 (GRCm39)	E126G	probably benign	Het
Cep97	C	T	16: 55,739,915 (GRCm39)	W248*	probably null	Het
Cfap69	A	T	5: 5,696,958 (GRCm39)	S113T	probably benign	Het
Cgrrf1	C	A	14: 47,091,200 (GRCm39)	D241E	probably benign	Het
Cnksr1	T	C	4: 133,960,608 (GRCm39)	T280A	possibly damaging	Het
Cox4i1	T	A	8: 121,398,022 (GRCm39)		probably benign	Het
Cpm	T	A	10: 117,519,414 (GRCm39)	F441I	probably benign	Het
Cs	A	C	10: 128,188,952 (GRCm39)	M154L		Het
Dmrta1	T	A	4: 89,579,914 (GRCm39)	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,560,297 (GRCm39)	T2125A	probably benign	Het
Dock10	A	T	1: 80,584,012 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,236,819 (GRCm39)	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,822,969 (GRCm39)	Y225C	probably damaging	Het
Elapor1	G	A	3: 108,370,819 (GRCm39)	T687I	probably benign	Het
F7	T	C	8: 13,076,087 (GRCm39)	L10P	possibly damaging	Het
Faf1	C	A	4: 109,748,105 (GRCm39)	T470K	possibly damaging	Het
Fam83h	A	T	15: 75,875,738 (GRCm39)	L533Q	possibly damaging	Het
Far1	T	A	7: 113,146,629 (GRCm39)	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,306,967 (GRCm39)	Y219H	probably damaging	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Gaa	T	A	11: 119,161,207 (GRCm39)	D83E	probably benign	Het
Grm2	A	G	9: 106,528,384 (GRCm39)	S167P	possibly damaging	Het
H1f11-ps	T	C	19: 47,159,129 (GRCm39)	K149E	unknown	Het
Hibch	T	C	1: 52,892,868 (GRCm39)	L26P	possibly damaging	Het
Hspa9	T	C	18: 35,075,084 (GRCm39)	E415G	probably damaging	Het
Ipo4	T	C	14: 55,866,408 (GRCm39)	Y757C	probably damaging	Het
Itk	T	A	11: 46,235,710 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,416,092 (GRCm39)	P1671S	probably benign	Het
Kif13a	G	A	13: 46,951,841 (GRCm39)	P811S	probably damaging	Het
Kif23	T	C	9: 61,828,341 (GRCm39)	E857G	probably damaging	Het
Kif2b	A	G	11: 91,468,011 (GRCm39)	S91P	probably benign	Het
Letm1	G	T	5: 33,909,847 (GRCm39)	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,388,799 (GRCm39)	M247K		Het
Mga	A	G	2: 119,778,070 (GRCm39)	I1872V	probably benign	Het
Mmp15	A	T	8: 96,096,316 (GRCm39)	N369I	probably benign	Het
Myo3a	T	A	2: 22,490,099 (GRCm39)	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ncoa2	A	G	1: 13,223,079 (GRCm39)	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,360,992 (GRCm39)	C254*	probably null	Het
Nlrp1a	C	T	11: 71,013,819 (GRCm39)	R477H	probably benign	Het
Nox3	T	A	17: 3,716,185 (GRCm39)	T407S	possibly damaging	Het
Or1x6	C	T	11: 50,939,660 (GRCm39)	T242M	probably damaging	Het
Or3a1d	T	C	11: 74,237,747 (GRCm39)	Y101C	probably damaging	Het
Or4c15b	T	A	2: 89,112,676 (GRCm39)	D267V	probably damaging	Het
Pfkp	T	A	13: 6,655,725 (GRCm39)	I303F	probably damaging	Het
Pgc	T	C	17: 48,043,983 (GRCm39)	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,999,373 (GRCm39)	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,701,098 (GRCm39)	N1613D	probably damaging	Het
Prb1b	C	T	6: 132,289,618 (GRCm39)	E69K	unknown	Het
Rapgef2	A	G	3: 78,981,651 (GRCm39)	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,807,032 (GRCm39)	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,109,605 (GRCm39)	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,765,612 (GRCm39)	I334N	probably damaging	Het
Slk	T	G	19: 47,608,512 (GRCm39)	N488K	probably benign	Het
Smarca5	T	C	8: 81,440,642 (GRCm39)	I607M	probably damaging	Het
Sspo	G	A	6: 48,473,087 (GRCm39)	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199 (GRCm39)	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,872,111 (GRCm39)	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,242,650 (GRCm39)	H78R	probably benign	Het
Trav14-3	C	A	14: 54,000,887 (GRCm39)	Q33K	unknown	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,066,744 (GRCm39)		probably null	Het
Vmn1r224	T	G	17: 20,640,112 (GRCm39)	S230A	possibly damaging	Het
Wee2	A	T	6: 40,421,189 (GRCm39)	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,796,934 (GRCm39)	E279G	probably damaging	Het
Zfp623	T	A	15: 75,819,349 (GRCm39)	F102I	probably damaging	Het
Zscan18	A	T	7: 12,506,116 (GRCm39)		probably benign	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
IGL02579:Zfpm2	APN	15	40,962,868 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAATGGGTGTGCCGTAC -3'
(R):5'- TAGTTCATTTGACATGTTCTGCTGC -3'

Sequencing Primer
(F):5'- GTGTGCCGTACCCAAGAAAGATTC -3'
(R):5'- CTGCTGCATGTGATGAGCAATAAAAC -3'

Posted On

2021-11-19