Mutagenetix > Incidental Mutation

Incidental Mutation 'R9252:Mzf1'

701600

Institutional Source

Beutler Lab

Gene Symbol

Mzf1

Ensembl Gene

ENSMUSG00000030380

Gene Name

myeloid zinc finger 1

Synonyms

Zfp98, Zfp121, Znf42, Mzf2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12776230-12788691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12777647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 665 (T665A)

Ref Sequence

ENSEMBL: ENSMUSP00000138271 (fasta)

Gene Model

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

AlphaFold

S4R1L6

Predicted Effect

probably benign
Transcript: ENSMUST00000069289

SMART Domains

Protein: ENSMUSP00000069122
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

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

probably benign
Transcript: ENSMUST00000182490
AA Change: T665A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: T665A

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: T586A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: T586A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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
Acap2	A	G	16: 30,920,641 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,865,496 (GRCm39)	N116D	probably benign	Het
Arfgef1	T	A	1: 10,243,122 (GRCm39)	R1073*	probably null	Het
Atp6v1d	T	A	12: 78,904,023 (GRCm39)	Q46L	probably benign	Het
Brme1	A	G	8: 84,898,878 (GRCm39)	S589G	possibly damaging	Het
Car15	A	T	16: 17,653,246 (GRCm39)	L307*	probably null	Het
Catspere2	A	T	1: 177,938,996 (GRCm39)	H623L	possibly damaging	Het
Ccdc146	T	C	5: 21,502,023 (GRCm39)	D797G	probably damaging	Het
Ccdc27	A	T	4: 154,125,507 (GRCm39)	D112E	unknown	Het
Ccp110	A	G	7: 118,321,673 (GRCm39)	I443V	probably benign	Het
Cd74	T	A	18: 60,941,364 (GRCm39)	M103K	possibly damaging	Het
Cdca2	T	A	14: 67,914,831 (GRCm39)	R809S	possibly damaging	Het
Cfap46	A	T	7: 139,198,165 (GRCm39)	V2061E	unknown	Het
Cimap1b	T	C	15: 89,262,601 (GRCm39)	S119G	probably benign	Het
Ddx11	G	A	17: 66,457,807 (GRCm39)	E873K	probably benign	Het
Gucy2d	G	A	7: 98,116,979 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,309,834 (GRCm39)	S1061R	probably damaging	Het
Ildr1	G	A	16: 36,536,574 (GRCm39)	R201H	probably damaging	Het
Jakmip2	T	A	18: 43,715,194 (GRCm39)	I111F	possibly damaging	Het
Kcnj2	A	G	11: 110,963,355 (GRCm39)	D249G	probably damaging	Het
Kif1a	T	A	1: 93,002,776 (GRCm39)	T208S	probably damaging	Het
Mgam	T	G	6: 40,706,577 (GRCm39)	M76R	probably damaging	Het
Mib1	T	G	18: 10,800,088 (GRCm39)	I809S	probably benign	Het
Myh8	G	T	11: 67,177,302 (GRCm39)	R456L	probably damaging	Het
Nfya	T	C	17: 48,699,943 (GRCm39)	H27R		Het
Nhsl3	A	G	4: 129,117,269 (GRCm39)	V510A	probably benign	Het
Nktr	T	C	9: 121,579,415 (GRCm39)	M1161T	unknown	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or13c7b	C	T	4: 43,821,109 (GRCm39)	G84D	probably benign	Het
Pde8b	C	T	13: 95,169,424 (GRCm39)	D567N	probably damaging	Het
Pik3cd	A	G	4: 149,740,087 (GRCm39)	I491T	possibly damaging	Het
Plcd3	G	T	11: 102,968,380 (GRCm39)	Y392*	probably null	Het
Plcd4	A	G	1: 74,588,359 (GRCm39)	I69M	probably damaging	Het
Plekhm2	T	C	4: 141,356,443 (GRCm39)	Y799C	probably damaging	Het
Pnlip	T	A	19: 58,669,273 (GRCm39)	I424N	possibly damaging	Het
Prlr	A	G	15: 10,326,550 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,522,247 (GRCm39)	V568A	probably benign	Het
Rtkn	A	G	6: 83,125,143 (GRCm39)	E201G	probably damaging	Het
Scg2	C	T	1: 79,414,069 (GRCm39)	R218H	probably damaging	Het
Shank2	A	G	7: 143,622,535 (GRCm39)	H223R	possibly damaging	Het
Slc23a2	A	T	2: 131,913,842 (GRCm39)	F312I	probably damaging	Het
Slc24a1	T	A	9: 64,835,394 (GRCm39)	E911V	probably damaging	Het
St8sia4	CCTCT	CCT	1: 95,555,232 (GRCm39)		probably null	Het
Stat1	C	A	1: 52,174,831 (GRCm39)	Q178K	probably benign	Het
Stat6	A	C	10: 127,483,661 (GRCm39)	N75T	probably benign	Het
Stk10	G	T	11: 32,538,915 (GRCm39)	K251N		Het
Sult1e1	G	T	5: 87,737,973 (GRCm39)	A36E	probably damaging	Het
Tbc1d12	A	G	19: 38,899,477 (GRCm39)	S466G	probably benign	Het
Thsd4	C	A	9: 59,964,230 (GRCm39)	A421S	probably benign	Het
Tsga10	T	A	1: 37,873,364 (GRCm39)	I172L	probably benign	Het
Ttn	A	T	2: 76,600,856 (GRCm39)	M18842K	probably benign	Het
Ttpal	T	G	2: 163,449,105 (GRCm39)		probably benign	Het
Twf2	A	G	9: 106,088,999 (GRCm39)	D62G	probably benign	Het
Ube3d	C	A	9: 86,254,501 (GRCm39)	V327F	probably damaging	Het
Ugt1a8	T	C	1: 88,015,706 (GRCm39)	S40P	probably benign	Het
Unc13c	A	T	9: 73,424,553 (GRCm39)	I2021N	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,849 (GRCm39)	Y701F	probably benign	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
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
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'- TACTCAGTGCTGTGGACACG -3'
(R):5'- ACAAGTCCTTCGGATGCGTG -3'

Sequencing Primer
(F):5'- AAACTCTGGCCACATTCGGG -3'
(R):5'- CCTTCGGATGCGTGGAGTG -3'

Posted On

2022-03-25