Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01524:Zmat3'

89502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmat3

Ensembl Gene

ENSMUSG00000027663

Gene Name

zinc finger matrin type 3

Synonyms

Wig1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

32334792-32366014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32341678 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 227 (R227C)

Ref Sequence

ENSEMBL: ENSMUSP00000131317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029199] [ENSMUST00000168566]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029199
AA Change: R227C

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: R227C

Domain	Start	End	E-Value	Type
ZnF_U1	67	101	1.03e-10	SMART
ZnF_C2H2	70	94	9.46e0	SMART
ZnF_U1	145	179	1.11e-10	SMART
ZnF_C2H2	148	172	5.54e1	SMART
ZnF_U1	243	277	7.72e-10	SMART
ZnF_C2H2	246	270	6.92e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168566
AA Change: R227C

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: R227C

Domain	Start	End	E-Value	Type
ZnF_U1	67	101	1.03e-10	SMART
ZnF_C2H2	70	94	9.46e0	SMART
ZnF_U1	145	179	1.11e-10	SMART
ZnF_C2H2	148	172	5.54e1	SMART
ZnF_U1	243	277	7.72e-10	SMART
ZnF_C2H2	246	270	6.92e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Abca14	T	C	7: 120,253,421	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,580	Y251H	possibly damaging	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,576,155	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Spats2	C	T	15: 99,212,246	A508V	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Trim17	A	G	11: 58,970,597	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,099,349	N67K	probably benign	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het

Other mutations in Zmat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01687:Zmat3	APN	3	32341531	missense	probably damaging	1.00
IGL02251:Zmat3	APN	3	32345583	splice site	probably benign
IGL03110:Zmat3	APN	3	32345552	missense	probably damaging	0.98
R0585:Zmat3	UTSW	3	32361105	missense	probably damaging	0.96
R1258:Zmat3	UTSW	3	32343671	missense	probably damaging	0.99
R1916:Zmat3	UTSW	3	32343348	missense	probably benign	0.00
R1968:Zmat3	UTSW	3	32360982	missense	probably damaging	1.00
R4805:Zmat3	UTSW	3	32343355	missense	probably benign	0.00
R4906:Zmat3	UTSW	3	32343687	missense	probably damaging	1.00
R6252:Zmat3	UTSW	3	32341621	missense	possibly damaging	0.55
R6844:Zmat3	UTSW	3	32341495	missense	probably damaging	1.00
R7998:Zmat3	UTSW	3	32341666	missense	possibly damaging	0.89
R8316:Zmat3	UTSW	3	32341521	missense	probably damaging	1.00

Posted On

2013-12-03