Mutagenetix > Incidental Mutation

Incidental Mutation 'R4924:Zfpm1'

378871

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

042526-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R4924 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

122282141-122337251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122334608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 304 (V304A)

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

possibly damaging
Transcript: ENSMUST00000054052
AA Change: V304A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: V304A

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,011,525	H625Y	probably damaging	Het
Adamts4	C	T	1: 171,259,074	R812W	probably damaging	Het
Ajuba	A	C	14: 54,571,599		probably null	Het
Aox2	T	A	1: 58,305,344	V532D	probably damaging	Het
Arpc1b	G	A	5: 145,126,815	S295N	probably benign	Het
Baiap2	A	G	11: 119,997,024	S335G	probably damaging	Het
BC051142	C	T	17: 34,459,977	P221L	probably damaging	Het
Brap	T	G	5: 121,665,255	N155K	probably damaging	Het
Btn1a1	A	G	13: 23,464,226		probably benign	Het
Ccl12	G	A	11: 82,102,649	V38I	probably benign	Het
Cemip	T	C	7: 83,952,938	Y881C	probably damaging	Het
Cep128	T	C	12: 91,022,400		silent	Het
Chd5	A	C	4: 152,366,429	D670A	possibly damaging	Het
Cmip	T	C	8: 117,257,255	Y52H	probably benign	Het
Dmtn	A	G	14: 70,617,959	I30T	probably benign	Het
Dscaml1	T	A	9: 45,745,189	M1609K	probably damaging	Het
Edar	C	A	10: 58,629,375	E55D	probably damaging	Het
Ehmt1	A	T	2: 24,839,722	I601N	probably damaging	Het
Fam120a	A	T	13: 48,902,096	N705K	probably benign	Het
Gm21718	G	T	14: 51,312,835		noncoding transcript	Het
Gnaz	A	G	10: 74,991,713	D99G	probably benign	Het
Helz	G	A	11: 107,602,339	G196D	probably damaging	Het
Hif1a	T	C	12: 73,939,557	S341P	probably damaging	Het
Hivep1	G	T	13: 42,158,316	S1344I	probably benign	Het
Hspa1l	T	A	17: 34,977,856	Y290*	probably null	Het
Ift81	A	G	5: 122,594,616	L285S	possibly damaging	Het
Inpp4b	T	A	8: 82,122,624	N891K	probably damaging	Het
Irx6	C	T	8: 92,678,353	T283M	probably benign	Het
Kdm5b	A	G	1: 134,631,351	K1538E	probably benign	Het
Kif13a	A	G	13: 46,929,599	V8A	probably damaging	Het
Krtap15	T	A	16: 88,829,148	N34K	probably damaging	Het
Lama2	T	G	10: 27,369,141	I215L	probably damaging	Het
Ldlrad3	C	T	2: 102,069,983	R58H	possibly damaging	Het
Lvrn	C	T	18: 46,894,725	P869L	probably damaging	Het
Myo1d	A	G	11: 80,674,678	F411S	probably damaging	Het
Myo5b	T	A	18: 74,695,384	H702Q	probably benign	Het
Nat8f4	G	T	6: 85,901,419	Q41K	probably benign	Het
Nckap5	C	A	1: 126,027,028	E596*	probably null	Het
Nek10	T	A	14: 14,846,594		probably null	Het
Notch3	T	C	17: 32,144,731	Y1145C	probably damaging	Het
Nr4a2	A	T	2: 57,112,023	H76Q	probably benign	Het
Nup98	T	C	7: 102,134,978	Q1049R	probably damaging	Het
Olfr1080	A	T	2: 86,553,509	F205Y	probably damaging	Het
Olfr1298	A	T	2: 111,645,776	S74T	possibly damaging	Het
Olfr172	T	A	16: 58,760,619	R186*	probably null	Het
Pepd	T	C	7: 35,020,984	Y231H	probably benign	Het
Plagl1	G	T	10: 13,127,557	A190S	possibly damaging	Het
Plat	T	A	8: 22,778,253	I345N	probably damaging	Het
Pnmt	A	G	11: 98,387,460	E120G	probably damaging	Het
Prkrip1	C	A	5: 136,198,943		probably null	Het
Pygm	G	A	19: 6,393,724	A572T	probably damaging	Het
Rbm4b	T	C	19: 4,757,372	F39L	probably damaging	Het
Rpe65	A	G	3: 159,622,631	H388R	probably benign	Het
Scn4a	G	T	11: 106,320,088	A1701E	possibly damaging	Het
Sdk2	C	A	11: 113,857,758	W616L	probably damaging	Het
Serpina3m	T	A	12: 104,391,470	S218T	probably benign	Het
Siglece	C	T	7: 43,659,873	R87H	probably damaging	Het
Sim1	C	A	10: 50,909,902	L284M	probably damaging	Het
Smok3c	G	T	5: 138,065,582	E444*	probably null	Het
Snx4	T	C	16: 33,294,730	V427A	probably benign	Het
Srp68	A	T	11: 116,260,858	V304E	probably damaging	Het
Stag1	A	T	9: 100,796,755	H243L	possibly damaging	Het
Stx6	T	C	1: 155,173,991	V14A	probably damaging	Het
Sv2b	T	A	7: 75,136,421	Y417F	probably benign	Het
Tas2r103	A	G	6: 133,036,198	Y302H	probably benign	Het
Thop1	T	C	10: 81,080,194	S404P	probably benign	Het
Trp53bp1	G	T	2: 121,221,220	C988*	probably null	Het
Ube3c	A	G	5: 29,631,271	E630G	possibly damaging	Het
Usf3	T	C	16: 44,217,355	S733P	probably benign	Het
Vmn1r195	A	G	13: 22,279,019	T220A	probably benign	Het
Vmn1r201	A	T	13: 22,474,712	H32L	probably benign	Het
Wnt2	A	G	6: 18,023,240	C137R	probably damaging	Het
Ythdc2	T	C	18: 44,847,804	S489P	probably damaging	Het
Zfp248	A	G	6: 118,429,072	C418R	probably damaging	Het
Zfp946	T	G	17: 22,455,521	F419V	probably damaging	Het
Zfp994	C	T	17: 22,200,757	E404K	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
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
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'- AAAGCCAGTACCTCAGCCTG -3'
(R):5'- GAACTGCATAGCACATGGTG -3'

Sequencing Primer
(F):5'- TGGAGCTGTCAAGGCCAG -3'
(R):5'- CATGGTGGCAGAGCAAGCTTTC -3'

Posted On

2016-04-15