Incidental Mutation 'IGL00971:Zfp469'
ID 306622
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 # IGL00971
Quality Score
Status
Chromosome 8
Chromosomal Location 122985359-122999389 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 122996472 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik C T 14: 35,532,170 (GRCm39) C135Y possibly damaging Het
Afdn T A 17: 14,072,575 (GRCm39) probably benign Het
Akap10 A G 11: 61,795,622 (GRCm39) V347A possibly damaging Het
Ankrd11 A G 8: 123,622,092 (GRCm39) S587P probably damaging Het
Ces1g T C 8: 94,029,660 (GRCm39) Y524C probably damaging Het
Cimip2b A G 4: 43,428,377 (GRCm39) L51P probably damaging Het
Cubn T C 2: 13,283,219 (GRCm39) N3573S possibly damaging Het
Cyp1a1 G T 9: 57,607,990 (GRCm39) C206F probably damaging Het
Fbxo30 T C 10: 11,166,042 (GRCm39) Y255H probably benign Het
Ggnbp2 T C 11: 84,731,230 (GRCm39) I295V possibly damaging Het
Gpatch8 A G 11: 102,370,743 (GRCm39) Y932H unknown Het
Gvin-ps3 G A 7: 105,681,008 (GRCm39) noncoding transcript Het
Heatr6 C T 11: 83,650,135 (GRCm39) P197L probably damaging Het
Helb T C 10: 119,930,168 (GRCm39) D737G possibly damaging Het
Helz A T 11: 107,554,479 (GRCm39) I1226F possibly damaging Het
Ipo11 A T 13: 106,993,277 (GRCm39) I749N probably damaging Het
Ipo13 T C 4: 117,771,564 (GRCm39) E2G possibly damaging Het
Jam3 A C 9: 27,013,188 (GRCm39) D127E probably damaging Het
Kif16b G T 2: 142,553,664 (GRCm39) Q1045K probably benign Het
Kin T C 2: 10,095,159 (GRCm39) W121R possibly damaging Het
Man1b1 T G 2: 25,233,337 (GRCm39) S237A possibly damaging Het
Mmel1 C T 4: 154,972,289 (GRCm39) probably benign Het
Morn4 T C 19: 42,064,559 (GRCm39) N143S possibly damaging Het
Nlrp4b A G 7: 10,448,882 (GRCm39) T362A possibly damaging Het
Ntpcr C T 8: 126,474,501 (GRCm39) T153M probably damaging Het
Or13p10 T A 4: 118,523,475 (GRCm39) F254I probably damaging Het
Pdzd2 A G 15: 12,374,804 (GRCm39) L1777P probably benign Het
Postn A G 3: 54,276,697 (GRCm39) N192S possibly damaging Het
Prkar1a A T 11: 109,551,877 (GRCm39) Y122F probably benign Het
Serpinb7 A G 1: 107,355,976 (GRCm39) probably benign Het
Setd3 A T 12: 108,126,496 (GRCm39) I121N probably damaging Het
Slamf7 T A 1: 171,466,810 (GRCm39) I132L probably benign Het
Syt4 T C 18: 31,580,227 (GRCm39) probably benign Het
Tesc G A 5: 118,194,504 (GRCm39) probably null Het
Tsc1 C A 2: 28,560,952 (GRCm39) S270* probably null Het
Wap C A 11: 6,586,808 (GRCm39) C97F probably damaging Het
Zfp451 A G 1: 33,822,234 (GRCm39) S155P probably benign Het
Zfp51 C T 17: 21,683,844 (GRCm39) T153M probably benign Het
Zfp579 A G 7: 4,996,390 (GRCm39) I507T probably damaging Het
Other mutations in Zfp469
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Zfp469 APN 8 122,998,009 (GRCm39) intron probably benign
Posted On 2015-04-16