Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Mzf1'

189418

Institutional Source

Beutler Lab

Gene Symbol

Mzf1

Ensembl Gene

ENSMUSG00000030380

Gene Name

myeloid zinc finger 1

Synonyms

Zfp98, Zfp121, Znf42, Mzf2

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

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

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12776230-12788691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12786698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 124 (R124L)

Ref Sequence

ENSEMBL: ENSMUSP00000138163 (fasta)

Gene Model

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

AlphaFold

S4R1L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069289
AA Change: R124L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380
AA Change: R124L

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

possibly damaging
Transcript: ENSMUST00000182087
AA Change: R124L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380
AA Change: R124L

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

possibly damaging
Transcript: ENSMUST00000182490
AA Change: R203L

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: R203L

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

possibly damaging
Transcript: ENSMUST00000182515
AA Change: R124L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: R124L

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

Meta Mutation Damage Score

0.1109

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	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
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

Predicted Primers

PCR Primer
(F):5'- GTCATCCAAAGTCCTGAACTTCCCC -3'
(R):5'- GCTACGCCCAGAAGTACATTCCAAG -3'

Sequencing Primer
(F):5'- CTCTTTTGACCTTGAGCAGAAAGC -3'
(R):5'- TACATTCCAAGGAACAGGTGC -3'

Posted On

2014-05-14