Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Zfpm1'

43647

Institutional Source

Beutler Lab

Gene Symbol

Zfpm1

Ensembl Gene

ENSMUSG00000049577

Gene Name

zinc finger protein, multitype 1

Synonyms

Fog1, Friend of GATA-1

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R0006 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

123008880-123063990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123061227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 264 (Y264C)

Ref Sequence

ENSEMBL: ENSMUSP00000058037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054052] [ENSMUST00000127664]

AlphaFold

O35615

PDB Structure

Solution structure of the third zinc finger domain of FOG-1 [SOLUTION NMR]
Solution structure of the PR domain of FOG-1 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054052
AA Change: Y264C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: Y264C

Domain	Start	End	E-Value	Type
low complexity region	32	72	N/A	INTRINSIC
low complexity region	86	94	N/A	INTRINSIC
ZnF_C2H2	255	275	3.13e1	SMART
ZnF_C2H2	303	327	1.69e-3	SMART
ZnF_C2H2	333	355	1.53e-1	SMART
ZnF_C2H2	361	384	9.46e0	SMART
low complexity region	508	525	N/A	INTRINSIC
low complexity region	570	578	N/A	INTRINSIC
ZnF_C2H2	590	610	1.41e2	SMART
low complexity region	626	643	N/A	INTRINSIC
low complexity region	644	663	N/A	INTRINSIC
ZnF_C2H2	696	723	1.78e2	SMART
low complexity region	725	755	N/A	INTRINSIC
low complexity region	761	779	N/A	INTRINSIC
low complexity region	785	806	N/A	INTRINSIC
low complexity region	823	834	N/A	INTRINSIC
ZnF_C2H2	836	856	7.77e1	SMART
ZnF_C2H2	868	891	1.96e1	SMART
low complexity region	948	961	N/A	INTRINSIC
ZnF_C2H2	963	989	4.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176690

SMART Domains

Protein: ENSMUSP00000135092
Gene: ENSMUSG00000049577

Domain	Start	End	E-Value	Type
ZnF_C2H2	51	71	3.13e1	SMART
ZnF_C2H2	99	123	1.69e-3	SMART
ZnF_C2H2	129	151	1.53e-1	SMART
ZnF_C2H2	157	180	9.46e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212315

Meta Mutation Damage Score

0.6872

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

MGI Phenotype

PHENOTYPE: Homozygous mutants have poorly vascularized yolk sacs and small, pale livers. Mutants die between embryonic days 10.5 and 12.5 with severe anemia associated with a block in megakaryocyte development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,813,935 (GRCm39)		probably benign	Het
Aldh3a1	G	A	11: 61,107,927 (GRCm39)	V324M	probably damaging	Het
Als2cl	T	A	9: 110,723,686 (GRCm39)	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,438,762 (GRCm39)	F556L	probably damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Boc	C	T	16: 44,316,812 (GRCm39)	V444I	probably benign	Het
Cfap61	G	A	2: 145,919,232 (GRCm39)	V655I	probably benign	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Cyp3a41a	T	A	5: 145,641,606 (GRCm39)	H288L	probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dock2	A	G	11: 34,262,453 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,419,695 (GRCm39)	N316S	possibly damaging	Het
Farsa	G	T	8: 85,587,934 (GRCm39)		probably benign	Het
Fibcd1	T	G	2: 31,728,599 (GRCm39)	D86A	probably damaging	Het
Gab1	A	T	8: 81,496,359 (GRCm39)	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155 (GRCm39)	T150K	possibly damaging	Het
Gnb3	G	A	6: 124,812,767 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Hmcn1	G	A	1: 150,684,427 (GRCm39)	P381L	probably damaging	Het
Hspa8	T	G	9: 40,715,925 (GRCm39)	N544K	probably benign	Het
Hspg2	C	T	4: 137,247,242 (GRCm39)	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,042,382 (GRCm39)		probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Lcor	A	G	19: 41,573,338 (GRCm39)	T698A	probably benign	Het
Lyrm7	T	A	11: 54,739,423 (GRCm39)	T76S	probably benign	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Mcub	A	C	3: 129,727,414 (GRCm39)		probably benign	Het
Muc13	T	C	16: 33,623,518 (GRCm39)	S271P	probably damaging	Het
Myo16	A	G	8: 10,525,988 (GRCm39)	K843E	probably damaging	Het
Nav2	A	G	7: 49,102,978 (GRCm39)	E531G	possibly damaging	Het
Niban3	A	G	8: 72,057,688 (GRCm39)		probably benign	Het
Nup188	T	C	2: 30,212,035 (GRCm39)	V553A	probably benign	Het
Or1e16	A	G	11: 73,286,314 (GRCm39)	F178S	probably damaging	Het
Or1e1c	A	G	11: 73,266,414 (GRCm39)	M283V	possibly damaging	Het
Or52d1	A	G	7: 103,755,527 (GRCm39)	I14V	probably benign	Het
Or6z1	A	G	7: 6,504,610 (GRCm39)	I205T	possibly damaging	Het
Or8b9	T	A	9: 37,766,516 (GRCm39)	V134D	possibly damaging	Het
P4ha3	C	T	7: 99,968,155 (GRCm39)	R378*	probably null	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rbfox1	T	A	16: 7,148,284 (GRCm39)	S244R	probably benign	Het
Rpp40	G	A	13: 36,080,718 (GRCm39)	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Skint5	T	C	4: 113,751,059 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tle4	A	G	19: 14,444,078 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,901,266 (GRCm39)	S1027P	probably benign	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Uggt2	A	T	14: 119,287,075 (GRCm39)	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,409,290 (GRCm39)	H205Q	probably damaging	Het
Wbp2	T	C	11: 115,970,614 (GRCm39)		probably null	Het
Xirp1	T	C	9: 119,846,520 (GRCm39)	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,296,637 (GRCm39)		probably null	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	Het

Other mutations in Zfpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02540:Zfpm1	APN	8	123,058,859 (GRCm39)	missense	possibly damaging	0.65
R0508:Zfpm1	UTSW	8	123,061,872 (GRCm39)	missense	probably damaging	1.00
R0631:Zfpm1	UTSW	8	123,063,613 (GRCm39)	intron	probably benign
R0729:Zfpm1	UTSW	8	123,063,398 (GRCm39)	missense	probably benign	0.20
R0883:Zfpm1	UTSW	8	123,062,585 (GRCm39)	missense	probably damaging	0.99
R1469:Zfpm1	UTSW	8	123,062,585 (GRCm39)	missense	probably damaging	0.99
R1469:Zfpm1	UTSW	8	123,062,585 (GRCm39)	missense	probably damaging	0.99
R1509:Zfpm1	UTSW	8	123,034,285 (GRCm39)	missense	possibly damaging	0.63
R1938:Zfpm1	UTSW	8	123,061,663 (GRCm39)	splice site	probably null
R2060:Zfpm1	UTSW	8	123,063,331 (GRCm39)	missense	probably benign	0.37
R3735:Zfpm1	UTSW	8	123,050,475 (GRCm39)	missense	possibly damaging	0.83
R3736:Zfpm1	UTSW	8	123,050,475 (GRCm39)	missense	possibly damaging	0.83
R4528:Zfpm1	UTSW	8	123,062,381 (GRCm39)	missense	probably benign	0.06
R4735:Zfpm1	UTSW	8	123,062,219 (GRCm39)	missense	probably benign	0.24
R4924:Zfpm1	UTSW	8	123,061,347 (GRCm39)	missense	possibly damaging	0.95
R5347:Zfpm1	UTSW	8	123,062,269 (GRCm39)	missense	possibly damaging	0.94
R5375:Zfpm1	UTSW	8	123,062,812 (GRCm39)	missense	probably benign	0.00
R5470:Zfpm1	UTSW	8	123,060,532 (GRCm39)	missense	probably damaging	0.99
R6358:Zfpm1	UTSW	8	123,063,850 (GRCm39)	intron	probably benign
R6768:Zfpm1	UTSW	8	123,061,195 (GRCm39)	missense	probably damaging	1.00
R6966:Zfpm1	UTSW	8	123,058,904 (GRCm39)	missense	probably damaging	1.00
R7422:Zfpm1	UTSW	8	123,063,698 (GRCm39)	missense	unknown
R7782:Zfpm1	UTSW	8	123,063,689 (GRCm39)	missense	unknown
R8065:Zfpm1	UTSW	8	123,062,323 (GRCm39)	missense	probably benign	0.00
R8067:Zfpm1	UTSW	8	123,062,323 (GRCm39)	missense	probably benign	0.00
R8192:Zfpm1	UTSW	8	123,058,833 (GRCm39)	missense	probably damaging	1.00
R8835:Zfpm1	UTSW	8	123,063,772 (GRCm39)	missense	unknown
R9308:Zfpm1	UTSW	8	123,034,231 (GRCm39)	missense	probably benign	0.13
R9342:Zfpm1	UTSW	8	123,061,308 (GRCm39)	missense	probably benign	0.29
R9698:Zfpm1	UTSW	8	123,063,868 (GRCm39)	missense	unknown
R9763:Zfpm1	UTSW	8	123,062,531 (GRCm39)	missense	probably damaging	1.00
Z1192:Zfpm1	UTSW	8	123,060,612 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAGATTGTACATGGCCTGCTACC -3'
(R):5'- TGGCAGAGCAAGCTTTCCTGAC -3'

Sequencing Primer
(F):5'- CATGGCCTGCTACCATAGGAAG -3'
(R):5'- CATGTGGATCTCCAGCGAG -3'

Posted On

2013-05-29