Mutagenetix > Incidental Mutation

Incidental Mutation 'R5875:Zmiz1'

455494

Institutional Source

Beutler Lab

Gene Symbol

Zmiz1

Ensembl Gene

ENSMUSG00000007817

Gene Name

zinc finger, MIZ-type containing 1

Synonyms

Rai17, Zimp10

MMRRC Submission

044082-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5875 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

25459609-25667167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25636390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 125 (M125K)

Ref Sequence

ENSEMBL: ENSMUSP00000124863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]

AlphaFold

Q6P1E1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007961
AA Change: M125K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: M125K

Domain	Start	End	E-Value	Type
low complexity region	123	142	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	239	268	N/A	INTRINSIC
SCOP:d1gkub1	280	323	1e-3	SMART
low complexity region	431	446	N/A	INTRINSIC
low complexity region	483	495	N/A	INTRINSIC
low complexity region	498	505	N/A	INTRINSIC
low complexity region	511	526	N/A	INTRINSIC
Pfam:zf-Nse	731	786	3.5e-8	PFAM
Pfam:zf-MIZ	739	788	7.6e-26	PFAM
low complexity region	867	881	N/A	INTRINSIC
low complexity region	982	997	N/A	INTRINSIC
low complexity region	1039	1062	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160229

SMART Domains

Protein: ENSMUSP00000124820
Gene: ENSMUSG00000007817

Domain	Start	End	E-Value	Type
low complexity region	59	77	N/A	INTRINSIC
low complexity region	115	144	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162645
AA Change: M125K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: M125K

Domain	Start	End	E-Value	Type
low complexity region	123	142	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	239	268	N/A	INTRINSIC
SCOP:d1gkub1	280	309	2e-3	SMART
low complexity region	437	452	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	504	511	N/A	INTRINSIC
low complexity region	517	532	N/A	INTRINSIC
Pfam:zf-MIZ	745	794	2.1e-26	PFAM
low complexity region	873	887	N/A	INTRINSIC
low complexity region	988	1003	N/A	INTRINSIC
low complexity region	1045	1068	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,028,737 (GRCm39)	V154A	possibly damaging	Het
Abcc1	A	G	16: 14,284,901 (GRCm39)	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,516,798 (GRCm39)	I181R	probably damaging	Het
Akap9	A	G	5: 4,127,285 (GRCm39)	Y3711C	probably benign	Het
Ark2c	T	C	18: 77,650,877 (GRCm39)		probably benign	Het
Arl1	T	C	10: 88,577,841 (GRCm39)	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,793,391 (GRCm39)	V583I	probably benign	Het
Cdca7	T	A	2: 72,313,901 (GRCm39)	M230K	probably benign	Het
Chd9	A	T	8: 91,778,464 (GRCm39)	D2841V	probably damaging	Het
Chp1	T	A	2: 119,402,296 (GRCm39)	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,391,206 (GRCm39)	T345A	probably benign	Het
Clca4b	A	C	3: 144,628,650 (GRCm39)	S352R	probably benign	Het
Cmya5	A	G	13: 93,231,692 (GRCm39)	V1132A	probably benign	Het
Crb2	T	A	2: 37,677,266 (GRCm39)		probably null	Het
Crhbp	A	G	13: 95,580,304 (GRCm39)	F99L	probably benign	Het
Dnmt3l	A	T	10: 77,889,772 (GRCm39)	M210L	probably benign	Het
Dyrk2	T	A	10: 118,696,602 (GRCm39)	R219W	probably damaging	Het
Exosc1	A	G	19: 41,916,542 (GRCm39)	I78T	probably damaging	Het
Exosc9	T	C	3: 36,615,342 (GRCm39)		probably null	Het
Frmd5	A	G	2: 121,388,959 (GRCm39)		probably benign	Het
Gata2	T	C	6: 88,179,473 (GRCm39)	L315P	probably damaging	Het
Gm17067	G	A	7: 42,357,470 (GRCm39)	T344I	probably benign	Het
Gm4884	A	T	7: 40,692,360 (GRCm39)	T110S	possibly damaging	Het
Hapln3	T	C	7: 78,771,721 (GRCm39)	E56G	probably benign	Het
Helq	A	C	5: 100,944,336 (GRCm39)	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,522,426 (GRCm39)	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,674,199 (GRCm39)	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,645,696 (GRCm39)	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,129,138 (GRCm39)	S482G	probably benign	Het
Itih1	C	T	14: 30,651,487 (GRCm39)	V902I	probably benign	Het
Jkampl	T	C	6: 73,446,028 (GRCm39)	I174V	possibly damaging	Het
Kctd16	T	A	18: 40,390,447 (GRCm39)		probably benign	Het
Kif27	T	C	13: 58,458,918 (GRCm39)	N971S	probably benign	Het
Klra17	T	C	6: 129,851,791 (GRCm39)	D27G	probably benign	Het
Leo1	G	C	9: 75,357,842 (GRCm39)	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,846,128 (GRCm39)	N348S	probably benign	Het
Lpp	G	A	16: 24,427,059 (GRCm39)	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,326,107 (GRCm39)	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,384,524 (GRCm39)	I61L	probably benign	Het
Mindy1	T	C	3: 95,202,125 (GRCm39)	V334A	probably damaging	Het
Muc20	G	A	16: 32,614,189 (GRCm39)	T396I	possibly damaging	Het
Myo5b	A	T	18: 74,840,973 (GRCm39)		probably null	Het
Noc4l	A	C	5: 110,799,176 (GRCm39)		probably null	Het
Oas1c	A	G	5: 120,943,627 (GRCm39)	Y171H	probably damaging	Het
Pclo	A	T	5: 14,730,614 (GRCm39)		probably benign	Het
Pmpcb	G	A	5: 21,947,944 (GRCm39)	E216K	probably benign	Het
Pskh1	G	A	8: 106,639,731 (GRCm39)	R137Q	possibly damaging	Het
Ptprb	T	G	10: 116,184,071 (GRCm39)	W1628G	probably benign	Het
Ranbp3	T	A	17: 57,014,955 (GRCm39)		probably null	Het
Sart1	T	C	19: 5,433,823 (GRCm39)	D338G	probably damaging	Het
Scn8a	T	A	15: 100,870,703 (GRCm39)	Y251*	probably null	Het
Sdk2	G	T	11: 113,720,885 (GRCm39)	T1348K	probably benign	Het
Sec16a	A	G	2: 26,323,379 (GRCm39)	Y1272H	probably damaging	Het
Slc26a1	A	T	5: 108,819,903 (GRCm39)	L432Q	probably damaging	Het
Susd1	A	T	4: 59,412,203 (GRCm39)	F117I	possibly damaging	Het
Taf5	A	T	19: 47,064,549 (GRCm39)	Y465F	probably damaging	Het
Tcstv1a	T	A	13: 120,355,630 (GRCm39)	M1L	probably benign	Het
Tectb	A	G	19: 55,178,058 (GRCm39)	D193G	possibly damaging	Het
Tex56	T	G	13: 35,116,429 (GRCm39)	C59W	probably damaging	Het
Tirap	G	A	9: 35,100,465 (GRCm39)	P73L	probably damaging	Het
Tm6sf2	A	G	8: 70,528,039 (GRCm39)	D86G	possibly damaging	Het
Tmem161b	A	T	13: 84,442,977 (GRCm39)	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,650,534 (GRCm39)	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,849,584 (GRCm39)	S75P	probably benign	Het
Uhrf2	A	G	19: 30,066,702 (GRCm39)	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,809,092 (GRCm39)	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,335,424 (GRCm39)	E81G	probably benign	Het
Zbtb45	A	G	7: 12,742,237 (GRCm39)	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,465,474 (GRCm39)	R570L	possibly damaging	Het
Zmiz2	T	C	11: 6,355,072 (GRCm39)	L913P	probably damaging	Het

Other mutations in Zmiz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Zmiz1	APN	14	25,572,494 (GRCm39)	start codon destroyed	probably null	0.53
IGL01582:Zmiz1	APN	14	25,658,654 (GRCm39)	missense	probably benign	0.00
IGL01601:Zmiz1	APN	14	25,582,068 (GRCm39)	missense	possibly damaging	0.68
IGL02008:Zmiz1	APN	14	25,657,303 (GRCm39)	missense	probably damaging	0.97
IGL02395:Zmiz1	APN	14	25,657,187 (GRCm39)	missense	probably damaging	1.00
IGL02836:Zmiz1	APN	14	25,657,166 (GRCm39)	splice site	probably benign
zapp	UTSW	14	25,663,404 (GRCm39)	missense	unknown
R0144:Zmiz1	UTSW	14	25,655,671 (GRCm39)	missense	probably damaging	1.00
R0255:Zmiz1	UTSW	14	25,654,919 (GRCm39)	splice site	probably benign
R1006:Zmiz1	UTSW	14	25,663,404 (GRCm39)	missense	unknown
R1160:Zmiz1	UTSW	14	25,654,936 (GRCm39)	missense	probably damaging	1.00
R1222:Zmiz1	UTSW	14	25,658,520 (GRCm39)	splice site	probably benign
R2846:Zmiz1	UTSW	14	25,646,099 (GRCm39)	missense	probably benign	0.03
R4126:Zmiz1	UTSW	14	25,657,354 (GRCm39)	missense	possibly damaging	0.94
R4373:Zmiz1	UTSW	14	25,636,434 (GRCm39)	missense	probably damaging	0.97
R4374:Zmiz1	UTSW	14	25,636,434 (GRCm39)	missense	probably damaging	0.97
R4377:Zmiz1	UTSW	14	25,636,434 (GRCm39)	missense	probably damaging	0.97
R4533:Zmiz1	UTSW	14	25,646,084 (GRCm39)	missense	probably damaging	1.00
R4726:Zmiz1	UTSW	14	25,644,098 (GRCm39)	critical splice donor site	probably null
R5295:Zmiz1	UTSW	14	25,656,771 (GRCm39)	missense	probably damaging	1.00
R5385:Zmiz1	UTSW	14	25,650,237 (GRCm39)	missense	probably damaging	1.00
R5579:Zmiz1	UTSW	14	25,645,280 (GRCm39)	missense	probably damaging	0.96
R5761:Zmiz1	UTSW	14	25,651,730 (GRCm39)	missense	probably damaging	1.00
R5761:Zmiz1	UTSW	14	25,651,728 (GRCm39)	missense	possibly damaging	0.86
R5844:Zmiz1	UTSW	14	25,657,354 (GRCm39)	missense	probably damaging	1.00
R6051:Zmiz1	UTSW	14	25,572,494 (GRCm39)	start codon destroyed	probably null	0.53
R6919:Zmiz1	UTSW	14	25,644,062 (GRCm39)	missense	probably damaging	1.00
R7083:Zmiz1	UTSW	14	25,652,372 (GRCm39)	missense	probably damaging	1.00
R7216:Zmiz1	UTSW	14	25,576,633 (GRCm39)	missense	probably damaging	0.99
R7216:Zmiz1	UTSW	14	25,576,631 (GRCm39)	missense	probably damaging	0.99
R7216:Zmiz1	UTSW	14	25,576,624 (GRCm39)	frame shift	probably null
R7233:Zmiz1	UTSW	14	25,650,092 (GRCm39)	missense	possibly damaging	0.61
R8674:Zmiz1	UTSW	14	25,647,410 (GRCm39)	missense	probably benign	0.00
R8772:Zmiz1	UTSW	14	25,646,118 (GRCm39)	missense	probably damaging	1.00
R9610:Zmiz1	UTSW	14	25,651,022 (GRCm39)	missense	probably benign	0.00
R9611:Zmiz1	UTSW	14	25,651,022 (GRCm39)	missense	probably benign	0.00
R9632:Zmiz1	UTSW	14	25,663,411 (GRCm39)	missense	unknown
R9740:Zmiz1	UTSW	14	25,657,250 (GRCm39)	missense	possibly damaging	0.79
X0023:Zmiz1	UTSW	14	25,650,108 (GRCm39)	missense	probably damaging	0.96
Z1176:Zmiz1	UTSW	14	25,646,168 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGGAAGCCTTAGAAATTTCCC -3'
(R):5'- TTCTCATCCCTGACTGACGG -3'

Sequencing Primer
(F):5'- GCCTTAGAAATTTCCCAGGAGC -3'
(R):5'- CTGACTGACGGGAAGACGC -3'

Posted On

2017-02-10