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: 0.830) question?

Stock #

R0006 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

122282141-122337251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122334488 bp (GRCm38)

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: 5,863,935		probably benign	Het
Aldh3a1	G	A	11: 61,217,101	V324M	probably damaging	Het
Als2cl	T	A	9: 110,894,618	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,602,898	F556L	probably damaging	Het
Atad2b	T	A	12: 4,942,030	S210T	possibly damaging	Het
Aurka	A	G	2: 172,359,753		probably null	Het
Boc	C	T	16: 44,496,449	V444I	probably benign	Het
Ccdc109b	A	C	3: 129,933,765		probably benign	Het
Cfap61	G	A	2: 146,077,312	V655I	probably benign	Het
Chd8	A	G	14: 52,235,293	I351T	possibly damaging	Het
Chid1	T	A	7: 141,496,426		probably benign	Het
Cyp3a41a	T	A	5: 145,704,796	H288L	probably benign	Het
Dnase2b	T	A	3: 146,582,489	I284F	probably damaging	Het
Dock2	A	G	11: 34,312,453		probably benign	Het
Dst	C	T	1: 34,228,918	T5325I	probably benign	Het
Erbb3	A	G	10: 128,573,410		probably null	Het
Fam129c	A	G	8: 71,605,044		probably benign	Het
Fancl	A	G	11: 26,469,695	N316S	possibly damaging	Het
Farsa	G	T	8: 84,861,305		probably benign	Het
Fibcd1	T	G	2: 31,838,587	D86A	probably damaging	Het
Gab1	A	T	8: 80,769,730	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,388,601	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155	T150K	possibly damaging	Het
Gm340	A	G	19: 41,584,899	T698A	probably benign	Het
Gnb3	G	A	6: 124,835,804		probably benign	Het
Hephl1	T	A	9: 15,076,764	T683S	probably benign	Het
Hmcn1	G	A	1: 150,808,676	P381L	probably damaging	Het
Hspa8	T	G	9: 40,804,629	N544K	probably benign	Het
Hspg2	C	T	4: 137,519,931	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,135,100		probably benign	Het
Jazf1	A	G	6: 52,894,086		probably benign	Het
Kntc1	T	A	5: 123,789,138	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,964,569	Y460F	possibly damaging	Het
Lyrm7	T	A	11: 54,848,597	T76S	probably benign	Het
Map1b	C	T	13: 99,435,302	V304M	probably damaging	Het
Muc13	T	C	16: 33,803,148	S271P	probably damaging	Het
Myo16	A	G	8: 10,475,988	K843E	probably damaging	Het
Nav2	A	G	7: 49,453,230	E531G	possibly damaging	Het
Nup188	T	C	2: 30,322,023	V553A	probably benign	Het
Olfr1	A	G	11: 73,395,488	F178S	probably damaging	Het
Olfr1348	A	G	7: 6,501,611	I205T	possibly damaging	Het
Olfr376	A	G	11: 73,375,588	M283V	possibly damaging	Het
Olfr646	A	G	7: 104,106,320	I14V	probably benign	Het
Olfr877	T	A	9: 37,855,220	V134D	possibly damaging	Het
P4ha3	C	T	7: 100,318,948	R378*	probably null	Het
Rap1gds1	G	T	3: 138,983,871		probably null	Het
Rbfox1	T	A	16: 7,330,420	S244R	probably benign	Het
Rpp40	G	A	13: 35,896,735	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,909,148	C148R	probably damaging	Het
Skint5	T	C	4: 113,893,862		probably benign	Het
Sptbn1	A	G	11: 30,123,855	S1405P	probably damaging	Het
Tex35	T	C	1: 157,099,744	K154E	possibly damaging	Het
Thada	T	C	17: 84,226,040	N1661S	probably benign	Het
Tle4	A	G	19: 14,466,714		probably benign	Het
Tnxb	T	C	17: 34,682,292	S1027P	probably benign	Het
Tpm3	T	A	3: 90,087,661		probably benign	Het
Ubr4	T	C	4: 139,431,649	F2438L	probably benign	Het
Uggt2	A	T	14: 119,049,663	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,432,305	H205Q	probably damaging	Het
Wbp2	T	C	11: 116,079,788		probably null	Het
Xirp1	T	C	9: 120,017,454	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,319,702		probably null	Het
Zfp687	A	G	3: 95,011,456	I335T	probably damaging	Het

Other mutations in Zfpm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02540:Zfpm1	APN	8	122332120	missense	possibly damaging	0.65
R0508:Zfpm1	UTSW	8	122335133	missense	probably damaging	1.00
R0631:Zfpm1	UTSW	8	122336874	intron	probably benign
R0729:Zfpm1	UTSW	8	122336659	missense	probably benign	0.20
R0883:Zfpm1	UTSW	8	122335846	missense	probably damaging	0.99
R1469:Zfpm1	UTSW	8	122335846	missense	probably damaging	0.99
R1469:Zfpm1	UTSW	8	122335846	missense	probably damaging	0.99
R1509:Zfpm1	UTSW	8	122307546	missense	possibly damaging	0.63
R1938:Zfpm1	UTSW	8	122334924	splice site	probably null
R2060:Zfpm1	UTSW	8	122336592	missense	probably benign	0.37
R3735:Zfpm1	UTSW	8	122323736	missense	possibly damaging	0.83
R3736:Zfpm1	UTSW	8	122323736	missense	possibly damaging	0.83
R4528:Zfpm1	UTSW	8	122335642	missense	probably benign	0.06
R4735:Zfpm1	UTSW	8	122335480	missense	probably benign	0.24
R4924:Zfpm1	UTSW	8	122334608	missense	possibly damaging	0.95
R5347:Zfpm1	UTSW	8	122335530	missense	possibly damaging	0.94
R5375:Zfpm1	UTSW	8	122336073	missense	probably benign	0.00
R5470:Zfpm1	UTSW	8	122333793	missense	probably damaging	0.99
R6358:Zfpm1	UTSW	8	122337111	intron	probably benign
R6768:Zfpm1	UTSW	8	122334456	missense	probably damaging	1.00
R6966:Zfpm1	UTSW	8	122332165	missense	probably damaging	1.00
R7422:Zfpm1	UTSW	8	122336959	missense	unknown
R7782:Zfpm1	UTSW	8	122336950	missense	unknown
R8065:Zfpm1	UTSW	8	122335584	missense	probably benign	0.00
R8067:Zfpm1	UTSW	8	122335584	missense	probably benign	0.00
R8192:Zfpm1	UTSW	8	122332094	missense	probably damaging	1.00
R8835:Zfpm1	UTSW	8	122337033	missense	unknown
R9308:Zfpm1	UTSW	8	122307492	missense	probably benign	0.13
R9342:Zfpm1	UTSW	8	122334569	missense	probably benign	0.29
R9698:Zfpm1	UTSW	8	122337129	missense	unknown
R9763:Zfpm1	UTSW	8	122335792	missense	probably damaging	1.00
Z1192:Zfpm1	UTSW	8	122333873	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