Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Zfpm1'

735815

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R9763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122282141-122337251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122335792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 530 (L530P)

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: L530P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: L530P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,263,558	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,443,598	Y420N	probably benign	Het
Adcy1	T	A	11: 7,064,126	L176Q	probably damaging	Het
Amdhd1	T	A	10: 93,531,536	K252M	possibly damaging	Het
Aspa	C	A	11: 73,322,268	E83*	probably null	Het
Atat1	A	G	17: 35,910,007	L10P	probably damaging	Het
Ccdc141	T	A	2: 77,039,575	N862I	probably damaging	Het
Cdkal1	A	T	13: 29,625,709	C217*	probably null	Het
Cttnbp2	C	T	6: 18,435,241	S206N	probably benign	Het
Dner	A	T	1: 84,383,935	I651N	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,834,624	V91A	probably damaging	Het
Fam198a	A	G	9: 121,976,355	D404G	probably damaging	Het
Gm11639	G	A	11: 104,999,659	G4189E	possibly damaging	Het
Gm13941	A	G	2: 111,101,173	L38S	unknown	Het
Golph3l	G	A	3: 95,609,774	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,923,915	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,548,676	E212V	possibly damaging	Het
Il6st	C	T	13: 112,490,517	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Krt71	T	G	15: 101,738,322	K317T	probably damaging	Het
Lgi4	T	C	7: 31,060,595	F72S	probably damaging	Het
Map3k1	C	T	13: 111,775,965	R174H	probably damaging	Het
Marveld3	T	A	8: 109,961,743	H122L	probably benign	Het
Mrgprb2	A	G	7: 48,552,426	S184P	probably benign	Het
Mylk	G	T	16: 34,879,112	G282*	probably null	Het
Myo16	T	A	8: 10,400,528	M510K	unknown	Het
Naip5	C	G	13: 100,230,761	A276P	probably damaging	Het
Olfr1016	T	G	2: 85,799,716	N185H	possibly damaging	Het
Olfr1045	A	T	2: 86,197,837	M305K	probably benign	Het
Olfr1507	T	G	14: 52,490,850	Y38S	probably damaging	Het
Olfr411	T	C	11: 74,347,215	Y3C	probably damaging	Het
Olfr518	T	A	7: 108,881,667		probably benign	Het
Olfr519	T	G	7: 108,894,003	I140L	probably benign	Het
Pdzrn4	T	C	15: 92,770,495	Y843H	probably damaging	Het
Prkca	A	G	11: 108,013,041	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,732,204	M717L	probably benign	Het
Rnf150	T	C	8: 83,006,339	S272P	probably benign	Het
Rtraf	A	G	14: 19,816,246	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,049,668	L592*	probably null	Het
Slc23a1	A	G	18: 35,622,311	S484P	probably damaging	Het
Slmap	A	G	14: 26,482,963	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,500,208	V56L	probably damaging	Het
Sycp2l	T	A	13: 41,152,756	S84T		Het
Syne1	T	C	10: 5,057,858	D122G	probably benign	Het
Timd2	G	T	11: 46,682,713	P155T	probably benign	Het
Topbp1	G	A	9: 103,346,724	R1401Q	probably benign	Het
Trim36	C	A	18: 46,176,058	D312Y	probably benign	Het
Vps13c	A	G	9: 67,911,578	T1094A	probably benign	Het
Vwa8	T	A	14: 78,949,548	Y465N	probably damaging	Het
Zmynd10	A	T	9: 107,548,766	T100S	probably benign	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
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
Z1192:Zfpm1	UTSW	8	122333873	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAAGGCCGAAGTCACCAAC -3'
(R):5'- ATCTCGCACTCAAAGCACGTG -3'

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

Posted On

2022-11-14