Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02418:Zmat2'

292533

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmat2

Ensembl Gene

ENSMUSG00000001383

Gene Name

zinc finger, matrin type 2

Synonyms

2610510D14Rik, 2900082I05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

IGL02418

Quality Score

Status

Chromosome

Chromosomal Location

36926976-36932713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36927392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 21 (Y21N)

Ref Sequence

ENSEMBL: ENSMUSP00000001419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001419] [ENSMUST00000019287] [ENSMUST00000152954]

AlphaFold

Q9CPW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000001419
AA Change: Y21N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001419
Gene: ENSMUSG00000001383
AA Change: Y21N

Domain	Start	End	E-Value	Type
ZnF_U1	77	111	2.41e-11	SMART
ZnF_C2H2	80	104	5.48e0	SMART
coiled coil region	118	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019287

SMART Domains

Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:tRNA-synt_His	61	313	1.3e-23	PFAM
Pfam:tRNA-synt_2b	72	234	2.8e-21	PFAM
Pfam:HGTP_anticodon2	324	424	2.7e-8	PFAM
Pfam:HGTP_anticodon	329	420	2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134122

Predicted Effect

probably benign
Transcript: ENSMUST00000152954

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:tRNA-synt_His	61	389	1e-38	PFAM
Pfam:HGTP_anticodon	410	501	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155842

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,424,479 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,156,730 (GRCm39)	V436A	probably benign	Het
Afap1l1	T	C	18: 61,885,648 (GRCm39)	D156G	probably damaging	Het
Arhgap21	G	A	2: 20,885,711 (GRCm39)	R489C	probably damaging	Het
Arhgap26	G	A	18: 39,490,620 (GRCm39)		probably benign	Het
Bbs5	T	G	2: 69,485,849 (GRCm39)	*89G	probably null	Het
Ceacam5	A	T	7: 17,493,359 (GRCm39)	Y794F	possibly damaging	Het
Ces3b	T	C	8: 105,812,279 (GRCm39)	V176A	probably damaging	Het
Cfi	A	G	3: 129,642,461 (GRCm39)	H105R	probably benign	Het
Chat	C	T	14: 32,168,906 (GRCm39)	V210I	possibly damaging	Het
Chd1l	A	G	3: 97,488,415 (GRCm39)	S534P	probably benign	Het
Cyb5rl	T	C	4: 106,928,182 (GRCm39)	L106P	probably damaging	Het
Cyp21a1	A	G	17: 35,023,162 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,495,679 (GRCm39)	C1436R	probably damaging	Het
Flg2	T	A	3: 93,108,361 (GRCm39)	F130I	probably benign	Het
Fryl	T	A	5: 73,267,519 (GRCm39)		probably benign	Het
Galnt10	T	C	11: 57,671,994 (GRCm39)	V428A	probably benign	Het
Ganab	A	G	19: 8,888,433 (GRCm39)	D496G	probably null	Het
Gapvd1	T	C	2: 34,620,530 (GRCm39)	T44A	probably benign	Het
Gm17093	T	A	14: 44,758,185 (GRCm39)	M122K	unknown	Het
Gm5356	A	T	8: 89,914,064 (GRCm39)		noncoding transcript	Het
Gmppa	G	T	1: 75,415,664 (GRCm39)	G126C	probably damaging	Het
Il23r	T	C	6: 67,467,656 (GRCm39)	H37R	possibly damaging	Het
Itga11	A	G	9: 62,651,914 (GRCm39)	I349V	probably benign	Het
Lrrc42	A	T	4: 107,100,533 (GRCm39)	Y159*	probably null	Het
Naa16	C	A	14: 79,620,806 (GRCm39)	R57L	probably damaging	Het
Ntmt2	A	T	1: 163,530,725 (GRCm39)	V238E	probably damaging	Het
Or8g4	A	G	9: 39,661,787 (GRCm39)	Y35C	probably damaging	Het
Oxtr	A	T	6: 112,454,200 (GRCm39)	H21Q	probably damaging	Het
Paqr7	A	G	4: 134,234,284 (GRCm39)	Y47C	probably damaging	Het
Paxbp1	A	C	16: 90,831,000 (GRCm39)	C459G	probably damaging	Het
Pnp2	C	T	14: 51,201,293 (GRCm39)	R222C	possibly damaging	Het
Rtl1	T	C	12: 109,556,883 (GRCm39)	D1652G	probably damaging	Het
Saxo5	T	A	8: 3,526,080 (GRCm39)	F78I	probably damaging	Het
Shoc1	A	T	4: 59,049,075 (GRCm39)		probably benign	Het
Spata4	C	A	8: 55,062,978 (GRCm39)	N294K	probably benign	Het
Tcp11l2	T	A	10: 84,449,470 (GRCm39)	Y478*	probably null	Het
Tcte1	T	A	17: 45,852,128 (GRCm39)	S454T	probably benign	Het
Thsd4	C	T	9: 60,335,598 (GRCm39)	V105I	probably damaging	Het
Tmem117	T	A	15: 94,829,765 (GRCm39)	I200N	probably benign	Het
Tpgs1	G	A	10: 79,505,289 (GRCm39)	V16M	probably benign	Het
Ttn	G	T	2: 76,797,447 (GRCm39)	T539K	probably benign	Het
Usp24	A	G	4: 106,293,557 (GRCm39)	S2542G	probably benign	Het
Vmn2r44	A	T	7: 8,380,864 (GRCm39)	L343H	probably damaging	Het
Zyx	C	T	6: 42,334,327 (GRCm39)	A517V	probably damaging	Het

Other mutations in Zmat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Zmat2	APN	18	36,929,163 (GRCm39)	missense	probably damaging	1.00
IGL03094:Zmat2	APN	18	36,929,119 (GRCm39)	missense	probably damaging	1.00
3-1:Zmat2	UTSW	18	36,929,693 (GRCm39)	missense	possibly damaging	0.89
R5551:Zmat2	UTSW	18	36,927,010 (GRCm39)	missense	probably benign	0.03
R7063:Zmat2	UTSW	18	36,929,627 (GRCm39)	missense	probably null	0.64
R9511:Zmat2	UTSW	18	36,930,958 (GRCm39)	missense	possibly damaging	0.93
RF007:Zmat2	UTSW	18	36,930,936 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16