Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:Zmat3'

641676

Institutional Source

Beutler Lab

Gene Symbol

Zmat3

Ensembl Gene

ENSMUSG00000027663

Gene Name

zinc finger matrin type 3

Synonyms

Wig1

MMRRC Submission

067854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32388941-32419814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32395670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 279 (Y279C)

Ref Sequence

ENSEMBL: ENSMUSP00000131317 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029199
AA Change: Y279C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: Y279C

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

probably damaging
Transcript: ENSMUST00000168566
AA Change: Y279C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: Y279C

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 78,903,573 (GRCm39)	C248G	probably damaging	Het
4933427D14Rik	A	T	11: 72,059,612 (GRCm39)	V693E	possibly damaging	Het
Abcc10	G	T	17: 46,638,735 (GRCm39)	L42I	probably damaging	Het
Alb	A	G	5: 90,616,449 (GRCm39)	E318G	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Aox4	T	A	1: 58,293,470 (GRCm39)	C941S	possibly damaging	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
AW209491	A	G	13: 14,812,349 (GRCm39)	T401A	probably damaging	Het
Ccdc57	C	T	11: 120,776,742 (GRCm39)	A553T	probably damaging	Het
Celf2	C	T	2: 6,551,914 (GRCm39)	D522N	probably benign	Het
Cfap210	A	G	2: 69,612,287 (GRCm39)		probably null	Het
Cmpk2	A	G	12: 26,524,136 (GRCm39)	N311S	probably damaging	Het
Dcn	T	C	10: 97,330,939 (GRCm39)	I91T	probably damaging	Het
Defa30	G	A	8: 21,624,709 (GRCm39)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,946,965 (GRCm39)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,585,053 (GRCm39)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,723,791 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,818,336 (GRCm39)	D344G	probably null	Het
H2-T5	A	G	17: 36,479,154 (GRCm39)	S32P	unknown	Het
Invs	G	T	4: 48,426,199 (GRCm39)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,325,199 (GRCm39)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,572,527 (GRCm39)	A39V	probably benign	Het
Marchf6	A	G	15: 31,482,650 (GRCm39)	L516P	possibly damaging	Het
Mecom	C	T	3: 30,011,529 (GRCm39)	E591K	probably benign	Het
Mical3	T	C	6: 120,911,944 (GRCm39)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm39)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,980,746 (GRCm39)	W1438*	probably null	Het
Mroh8	G	T	2: 157,071,879 (GRCm39)	T542K	possibly damaging	Het
Msl1	A	T	11: 98,691,074 (GRCm39)	K416I	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or51a10	A	T	7: 103,698,829 (GRCm39)	V244E	probably damaging	Het
Or5p5	G	T	7: 107,414,030 (GRCm39)	V82F	possibly damaging	Het
Or5p58	A	G	7: 107,694,450 (GRCm39)	F109S	probably benign	Het
Or6c70	A	G	10: 129,709,891 (GRCm39)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 114,946,323 (GRCm39)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,250,180 (GRCm39)	M212L	probably benign	Het
Pld1	A	G	3: 28,078,361 (GRCm39)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,012,302 (GRCm39)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,390,641 (GRCm39)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,763,456 (GRCm39)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,784,861 (GRCm39)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,436,077 (GRCm39)	T656A	probably benign	Het
Sacs	T	C	14: 61,427,068 (GRCm39)	Y159H	possibly damaging	Het
Septin14	A	G	5: 129,773,194 (GRCm39)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,492,640 (GRCm39)	M341K	probably benign	Het
Smok2a	T	C	17: 13,445,160 (GRCm39)	S246P	probably damaging	Het
Spata9	C	A	13: 76,125,890 (GRCm39)	S124R	possibly damaging	Het
Sri	A	G	5: 8,113,317 (GRCm39)	N103D	probably damaging	Het
Sspo	G	A	6: 48,459,622 (GRCm39)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,178,370 (GRCm39)	M353V	probably benign	Het
Trim80	A	T	11: 115,332,006 (GRCm39)	E66V	probably damaging	Het
Txndc16	A	G	14: 45,448,641 (GRCm39)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 87,039,249 (GRCm39)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,178,899 (GRCm39)	V1357L	probably benign	Het
Usp15	G	T	10: 122,959,848 (GRCm39)	P855T		Het
Uspl1	C	T	5: 149,135,491 (GRCm39)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,319,084 (GRCm39)	M314R	probably benign	Het
Zcchc2	A	G	1: 105,959,844 (GRCm39)	Y1151C	probably damaging	Het

Other mutations in Zmat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Zmat3	APN	3	32,395,827 (GRCm39)	missense	possibly damaging	0.82
IGL01687:Zmat3	APN	3	32,395,680 (GRCm39)	missense	probably damaging	1.00
IGL02251:Zmat3	APN	3	32,399,732 (GRCm39)	splice site	probably benign
IGL03110:Zmat3	APN	3	32,399,701 (GRCm39)	missense	probably damaging	0.98
R0585:Zmat3	UTSW	3	32,415,254 (GRCm39)	missense	probably damaging	0.96
R1258:Zmat3	UTSW	3	32,397,820 (GRCm39)	missense	probably damaging	0.99
R1916:Zmat3	UTSW	3	32,397,497 (GRCm39)	missense	probably benign	0.00
R1968:Zmat3	UTSW	3	32,415,131 (GRCm39)	missense	probably damaging	1.00
R4805:Zmat3	UTSW	3	32,397,504 (GRCm39)	missense	probably benign	0.00
R4906:Zmat3	UTSW	3	32,397,836 (GRCm39)	missense	probably damaging	1.00
R6252:Zmat3	UTSW	3	32,395,770 (GRCm39)	missense	possibly damaging	0.55
R6844:Zmat3	UTSW	3	32,395,644 (GRCm39)	missense	probably damaging	1.00
R7998:Zmat3	UTSW	3	32,395,815 (GRCm39)	missense	possibly damaging	0.89
R9154:Zmat3	UTSW	3	32,397,767 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAGCATCCTGGTGACCAAAG -3'
(R):5'- TCAGCAGGCCCTTACTTCAATG -3'

Sequencing Primer
(F):5'- TCCTGGTGACCAAAGAAACG -3'
(R):5'- ACTTCAATGCCCGCTCCCG -3'

Posted On

2020-07-28