Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01640:Zfp469'

93115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp469

Ensembl Gene

ENSMUSG00000043903

Gene Name

zinc finger protein 469

Synonyms

LOC195209, Gm22

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01640

Quality Score

Status

Chromosome

Chromosomal Location

122985359-122999389 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 122998009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127664]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000055537

SMART Domains

Protein: ENSMUSP00000057897
Gene: ENSMUSG00000043903

Domain	Start	End	E-Value	Type
ZnF_C2H2	1	23	7.15e-2	SMART
ZnF_C2H2	29	52	5.34e-1	SMART
ZnF_C2H2	82	104	3.39e-3	SMART
low complexity region	156	164	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
low complexity region	328	345	N/A	INTRINSIC
low complexity region	376	403	N/A	INTRINSIC
low complexity region	499	510	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187142

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 zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [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
1700003H04Rik	T	C	3: 124,373,587 (GRCm39)	T3A	probably damaging	Het
4933402N03Rik	A	T	7: 130,740,848 (GRCm39)	S123T	possibly damaging	Het
Adamts17	A	T	7: 66,679,428 (GRCm39)	T559S	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Arel1	G	A	12: 84,967,475 (GRCm39)	T783M	probably damaging	Het
B3gntl1	C	T	11: 121,563,846 (GRCm39)	E5K	probably benign	Het
Faf1	T	A	4: 109,697,600 (GRCm39)	F309I	probably damaging	Het
Fhod3	T	G	18: 25,248,850 (GRCm39)	M1343R	probably benign	Het
Fnbp1	A	G	2: 30,995,303 (GRCm39)	F44L	probably damaging	Het
Gm3633	A	T	14: 42,460,324 (GRCm39)	Y206*	probably null	Het
Gprc6a	A	C	10: 51,503,180 (GRCm39)	F228V	probably damaging	Het
Il31ra	T	C	13: 112,668,292 (GRCm39)	I453V	possibly damaging	Het
Kif2a	A	G	13: 107,111,060 (GRCm39)	I529T	probably damaging	Het
Lrrc19	C	T	4: 94,526,745 (GRCm39)	V271I	probably damaging	Het
Ncaph2	A	G	15: 89,248,041 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,610,856 (GRCm39)	I49T	probably benign	Het
Nhlrc3	A	T	3: 53,360,958 (GRCm39)		probably benign	Het
Or51ac3	A	G	7: 103,214,228 (GRCm39)	V86A	probably damaging	Het
Or52n20	A	T	7: 104,320,871 (GRCm39)	S321C	probably damaging	Het
Or8g28	C	A	9: 39,169,559 (GRCm39)	M136I	probably damaging	Het
Pcnx2	T	C	8: 126,528,297 (GRCm39)	T1308A	probably benign	Het
Pla2g6	T	C	15: 79,188,513 (GRCm39)	N448S	probably benign	Het
Pole	T	A	5: 110,446,132 (GRCm39)	L571Q	probably null	Het
Rufy1	A	G	11: 50,281,205 (GRCm39)		probably benign	Het
Sftpd	C	A	14: 40,894,592 (GRCm39)	A276S	probably benign	Het
Slc35f4	A	C	14: 49,556,225 (GRCm39)	V176G	probably damaging	Het
Snrpb	T	C	2: 130,017,251 (GRCm39)	D89G	probably benign	Het
Stab2	A	T	10: 86,790,035 (GRCm39)	V577D	probably benign	Het
Synrg	A	C	11: 83,872,334 (GRCm39)	S152R	probably damaging	Het
Trgv7	T	C	13: 19,362,260 (GRCm39)		probably benign	Het
Trpm1	A	G	7: 63,876,645 (GRCm39)	E682G	probably damaging	Het
Unc80	T	C	1: 66,718,744 (GRCm39)	I2989T	probably benign	Het
Vmn1r116	A	G	7: 20,606,373 (GRCm39)	T65A	probably benign	Het

Other mutations in Zfp469

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Zfp469	APN	8	122,996,472 (GRCm39)	intron	probably benign

Posted On

2013-12-09