Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Mzf1'

438023

Institutional Source

Beutler Lab

Gene Symbol

Mzf1

Ensembl Gene

ENSMUSG00000030380

Gene Name

myeloid zinc finger 1

Synonyms

Zfp98, Zfp121, Znf42, Mzf2

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12776230-12788691 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 12778554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069289] [ENSMUST00000182087] [ENSMUST00000182490] [ENSMUST00000182515]

AlphaFold

S4R1L6

Predicted Effect

unknown
Transcript: ENSMUST00000069289
AA Change: S317P

SMART Domains

Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
AA Change: S317P

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
SCAN	41	153	1.18e-70	SMART
ZnF_C2H2	357	379	4.87e-4	SMART
ZnF_C2H2	385	407	1.95e-3	SMART
ZnF_C2H2	413	435	1.18e-2	SMART
ZnF_C2H2	441	463	8.6e-5	SMART
ZnF_C2H2	486	508	1.79e-2	SMART
ZnF_C2H2	514	536	7.15e-2	SMART
ZnF_C2H2	542	564	8.47e-4	SMART
ZnF_C2H2	570	592	2.79e-4	SMART
ZnF_C2H2	598	620	1.6e-4	SMART
ZnF_C2H2	626	648	1.67e-2	SMART
ZnF_C2H2	654	676	3.44e-4	SMART
ZnF_C2H2	682	704	2.84e-5	SMART
ZnF_C2H2	710	732	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182087

SMART Domains

Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
SCAN	41	152	9.06e-58	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182293

Predicted Effect

silent
Transcript: ENSMUST00000182490

SMART Domains

Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380

Domain	Start	End	E-Value	Type
low complexity region	103	113	N/A	INTRINSIC
SCAN	120	232	1.18e-70	SMART
ZnF_C2H2	436	458	4.87e-4	SMART
ZnF_C2H2	464	486	1.95e-3	SMART
ZnF_C2H2	492	514	1.18e-2	SMART
ZnF_C2H2	520	542	8.6e-5	SMART
ZnF_C2H2	565	587	1.79e-2	SMART
ZnF_C2H2	593	615	7.15e-2	SMART
ZnF_C2H2	621	643	8.47e-4	SMART
ZnF_C2H2	649	671	2.79e-4	SMART
ZnF_C2H2	677	699	1.6e-4	SMART
ZnF_C2H2	705	727	1.67e-2	SMART
ZnF_C2H2	733	755	3.44e-4	SMART
ZnF_C2H2	761	783	2.84e-5	SMART
ZnF_C2H2	789	811	2.4e-3	SMART

Predicted Effect

silent
Transcript: ENSMUST00000182515

SMART Domains

Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
SCAN	41	153	1.18e-70	SMART
ZnF_C2H2	357	379	4.87e-4	SMART
ZnF_C2H2	385	407	1.95e-3	SMART
ZnF_C2H2	413	435	1.18e-2	SMART
ZnF_C2H2	441	463	8.6e-5	SMART
ZnF_C2H2	486	508	1.79e-2	SMART
ZnF_C2H2	514	536	7.15e-2	SMART
ZnF_C2H2	542	564	8.47e-4	SMART
ZnF_C2H2	570	592	2.79e-4	SMART
ZnF_C2H2	598	620	1.6e-4	SMART
ZnF_C2H2	626	648	1.67e-2	SMART
ZnF_C2H2	654	676	3.44e-4	SMART
ZnF_C2H2	682	704	2.84e-5	SMART
ZnF_C2H2	710	732	2.4e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210727

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants are prone to late-onset (>2 yr) neoplasias characterized by infiltration, enlargement and disruption of the liver by monomorphic cells of myeloid origin; hemopoietic progenitors show increased ability to sustain long-term hemopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	Het

Other mutations in Mzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Mzf1	APN	7	12,778,543 (GRCm39)	missense	possibly damaging	0.85
IGL01728:Mzf1	APN	7	12,785,654 (GRCm39)	splice site	probably benign
IGL02194:Mzf1	APN	7	12,777,647 (GRCm39)	missense	possibly damaging	0.53
IGL02256:Mzf1	APN	7	12,786,664 (GRCm39)	splice site	probably benign
IGL02584:Mzf1	APN	7	12,786,744 (GRCm39)	missense	probably damaging	0.98
IGL02678:Mzf1	APN	7	12,786,836 (GRCm39)	missense	probably benign	0.00
R0903:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R0904:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R0905:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R1128:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R1131:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R1280:Mzf1	UTSW	7	12,787,010 (GRCm39)	missense	probably damaging	0.96
R1400:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R1640:Mzf1	UTSW	7	12,777,197 (GRCm39)	makesense	probably null
R1687:Mzf1	UTSW	7	12,786,698 (GRCm39)	missense	possibly damaging	0.82
R4014:Mzf1	UTSW	7	12,777,883 (GRCm39)	missense	possibly damaging	0.47
R4721:Mzf1	UTSW	7	12,777,448 (GRCm39)	missense	possibly damaging	0.53
R4721:Mzf1	UTSW	7	12,777,223 (GRCm39)	missense	possibly damaging	0.52
R5511:Mzf1	UTSW	7	12,785,526 (GRCm39)	missense	possibly damaging	0.95
R5728:Mzf1	UTSW	7	12,777,985 (GRCm39)	missense	probably benign	0.00
R5868:Mzf1	UTSW	7	12,787,116 (GRCm39)	missense	probably benign	0.00
R6283:Mzf1	UTSW	7	12,787,296 (GRCm39)	intron	probably benign
R7059:Mzf1	UTSW	7	12,786,985 (GRCm39)	missense	probably damaging	0.96
R7066:Mzf1	UTSW	7	12,777,490 (GRCm39)	missense	possibly damaging	0.92
R7763:Mzf1	UTSW	7	12,778,018 (GRCm39)	missense	probably damaging	1.00
R8157:Mzf1	UTSW	7	12,778,279 (GRCm39)	missense	probably damaging	1.00
R8870:Mzf1	UTSW	7	12,786,836 (GRCm39)	missense	probably benign	0.00
R9063:Mzf1	UTSW	7	12,787,005 (GRCm39)	missense	probably damaging	1.00
R9113:Mzf1	UTSW	7	12,778,279 (GRCm39)	missense	probably damaging	1.00
R9252:Mzf1	UTSW	7	12,777,647 (GRCm39)	missense	probably benign	0.33
R9289:Mzf1	UTSW	7	12,785,534 (GRCm39)	missense	probably benign	0.02
R9792:Mzf1	UTSW	7	12,786,131 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTCGCTGGCTGAACACCTTG -3'
(R):5'- AGAGCAGCCACTCTTATCTCC -3'

Sequencing Primer
(F):5'- TTGCCACACACGTCGCAG -3'
(R):5'- CTTTCTGCCTCACCAACCAG -3'

Posted On

2016-10-26