Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Mzf1'

303220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mzf1

Ensembl Gene

ENSMUSG00000030380

Gene Name

myeloid zinc finger 1

Synonyms

Zfp98, Zfp121, Znf42, Mzf2

Accession Numbers

Essential gene?

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

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

12776230-12788691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12786836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

Ref Sequence

ENSEMBL: ENSMUSP00000138387 (fasta)

Gene Model

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

AlphaFold

S4R1L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069289
AA Change: V78A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
AA Change: V78A

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
AA Change: V78A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380
AA Change: V78A

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

probably benign
Transcript: ENSMUST00000182490
AA Change: V157A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: V157A

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

probably benign
Transcript: ENSMUST00000182515
AA Change: V78A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: V78A

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Cblif	T	C	19: 11,725,839 (GRCm39)	M43T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Nploc4	A	G	11: 120,280,198 (GRCm39)	I450T	probably benign	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Or8g30	C	T	9: 39,230,217 (GRCm39)	S231N	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pak1	A	C	7: 97,543,209 (GRCm39)	T291P	probably damaging	Het
Pcmtd1	T	A	1: 7,240,045 (GRCm39)	I338K	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc16a11	T	C	11: 70,106,242 (GRCm39)	L112S	probably damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	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
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
R5611:Mzf1	UTSW	7	12,778,554 (GRCm39)	utr 3 prime	probably benign
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

Posted On

2015-04-16