Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Zfpm1'

500281

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

039522-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122282141-122337251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122335846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 548 (T548M)

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: T548M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: T548M

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

0.6467

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,891,679	V261E	probably damaging	Het
Abca15	A	G	7: 120,382,497	E1058G	probably benign	Het
Abcb5	T	G	12: 118,867,946	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,905,328	V348A	probably benign	Het
Agtr1b	A	T	3: 20,315,500	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,367,926	M402T	probably benign	Het
Asap2	A	G	12: 21,213,179	Q265R	probably benign	Het
Atp2b4	G	A	1: 133,706,939	R1124C	probably damaging	Het
Atp2c1	A	T	9: 105,435,152	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733		probably null	Het
Baz1b	T	A	5: 135,217,979	Y761N	probably damaging	Het
Bend6	A	G	1: 33,864,743	V38A	probably benign	Het
Camk1g	T	C	1: 193,362,091	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,706,782	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,624,267	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,414,108	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,896,875	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,093,702	Y142C	probably damaging	Het
Coa5	T	A	1: 37,420,600	R71*	probably null	Het
Csmd3	A	T	15: 47,669,202	Y2532*	probably null	Het
Cytl1	A	T	5: 37,735,647	M34L	probably benign	Het
Dctn1	T	A	6: 83,192,889	I590N	probably damaging	Het
Dhx57	T	C	17: 80,254,418	H889R	probably damaging	Het
Dock10	A	G	1: 80,512,558	I1948T	probably benign	Het
Dock3	A	T	9: 106,955,709	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,659,776		probably null	Het
Eif4g1	T	A	16: 20,680,008	V439E	possibly damaging	Het
Eml5	T	C	12: 98,858,823	I712V	probably benign	Het
Epha3	C	T	16: 63,653,494	G300D	probably damaging	Het
Erbb4	A	C	1: 68,560,682	S79A	probably damaging	Het
Fam189a2	G	A	19: 23,973,606	T537I	probably benign	Het
Gclc	T	C	9: 77,781,137	V205A	probably benign	Het
Gdpd4	A	G	7: 97,974,466		probably null	Het
Gm11564	C	T	11: 99,815,232	C124Y	unknown	Het
Gm16494	T	C	17: 47,016,844	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,805,125		probably null	Het
Gtsf2	G	T	15: 103,441,217	R68S	probably benign	Het
Heatr5b	T	C	17: 78,808,384	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,098,835	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,648,343	I7V	probably benign	Het
Izumo1	T	C	7: 45,623,013	S73P	probably damaging	Het
Kif1bp	A	T	10: 62,559,450	F471Y	probably damaging	Het
Knl1	A	G	2: 119,071,346	N1176S	possibly damaging	Het
Mecom	A	T	3: 29,980,048	L493Q	probably damaging	Het
Mprip	T	C	11: 59,759,190	V1240A	probably damaging	Het
Mrpl3	T	C	9: 105,077,002	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,188,520	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,669,961	S766P	probably damaging	Het
Myo9b	A	G	8: 71,291,036	Q247R	probably damaging	Het
Nav3	G	A	10: 109,760,508	T1423I	probably damaging	Het
Nefh	A	T	11: 4,940,066	I851N	probably benign	Het
Nup98	T	C	7: 102,138,801	T1004A	probably benign	Het
Olfr175-ps1	G	A	16: 58,824,610	T33I	probably benign	Het
Olfr23	T	C	11: 73,940,557	F104L	probably benign	Het
Olfr381	G	A	11: 73,486,323	S167L	possibly damaging	Het
Olfr502	T	C	7: 108,523,204	T249A	probably benign	Het
Osgin1	G	T	8: 119,445,385	R306L	possibly damaging	Het
Otof	A	G	5: 30,380,227	L1246P	probably benign	Het
Pde8a	T	A	7: 81,302,271	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,727	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 109,646,953	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,536,886	V2142A	probably benign	Het
Plb1	A	G	5: 32,354,826	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,575,771	I756V	probably benign	Het
Primpol	A	G	8: 46,593,637	V208A	probably benign	Het
Ptch2	C	A	4: 117,108,465	A389E	probably benign	Het
Pzp	A	G	6: 128,512,356	Y431H	probably benign	Het
Rnf43	G	A	11: 87,731,407	G445R	probably damaging	Het
Scn5a	A	T	9: 119,533,661		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Shisa9	T	A	16: 11,985,071	M164K	probably damaging	Het
Skint1	A	G	4: 112,025,511	I251V	probably benign	Het
Slc16a14	C	T	1: 84,929,461	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,193,295	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,531,101	F316L	probably benign	Het
Smchd1	C	T	17: 71,349,730	R1914H	probably damaging	Het
Snx16	C	T	3: 10,434,371	D200N	probably damaging	Het
Spock3	A	G	8: 62,951,900	D34G	probably damaging	Het
Sspo	T	C	6: 48,490,982	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,687,324	A131V	probably benign	Het
Tacc1	T	A	8: 25,182,255	D319V	probably benign	Het
Tead1	A	T	7: 112,876,184	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,075,458	V161I	probably benign	Het
Tnfaip3	A	G	10: 19,008,269	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,852,055	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,503,965	L809F	probably damaging	Het
Ttn	T	C	2: 76,771,525	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,216,254	A199T	probably damaging	Het
Unc5a	A	G	13: 54,996,419	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,540,801	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,346,018	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,843,828	T556A	probably benign	Het
Ythdc2	T	A	18: 44,864,462	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,769,813	K989M	possibly 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
R0006:Zfpm1	UTSW	8	122334488	missense	probably damaging	1.00
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
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'- ATCCTCAGGACTGGACAGTAAGGC -3'
(R):5'- AGGTGATCTCGCACTCAAAGCAC -3'

Sequencing Primer
(F):5'- CCATCAAGGTGGAGGCTG -3'
(R):5'- ACGTGGCACCCTTAGTCC -3'

Posted On

2017-12-01