Incidental Mutation 'IGL00770:Fundc1'
ID277897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fundc1
Ensembl Gene ENSMUSG00000025040
Gene NameFUN14 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00770
Quality Score
Status
ChromosomeX
Chromosomal Location17556564-17572325 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to A at 17558013 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026016] [ENSMUST00000026016] [ENSMUST00000142638] [ENSMUST00000142638] [ENSMUST00000176638] [ENSMUST00000176638] [ENSMUST00000177213] [ENSMUST00000177213]
Predicted Effect probably null
Transcript: ENSMUST00000026016
SMART Domains Protein: ENSMUSP00000026016
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 53 154 5.2e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000026016
SMART Domains Protein: ENSMUSP00000026016
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 53 154 5.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127690
Predicted Effect probably null
Transcript: ENSMUST00000142638
SMART Domains Protein: ENSMUSP00000135026
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 10 111 1.9e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142638
SMART Domains Protein: ENSMUSP00000135026
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 10 111 1.9e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176638
SMART Domains Protein: ENSMUSP00000135183
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 53 89 5.9e-13 PFAM
low complexity region 101 110 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000176638
SMART Domains Protein: ENSMUSP00000135183
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 53 89 5.9e-13 PFAM
low complexity region 101 110 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000177213
SMART Domains Protein: ENSMUSP00000134878
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 10 111 1.9e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177213
SMART Domains Protein: ENSMUSP00000134878
Gene: ENSMUSG00000025040

DomainStartEndE-ValueType
Pfam:FUN14 10 111 1.9e-39 PFAM
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 with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Aldob A G 4: 49,536,843 S349P probably benign Het
Cd2 A T 3: 101,283,029 probably null Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
E2f3 A T 13: 29,918,704 D68E probably damaging Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Map3k2 C T 18: 32,228,239 P584L probably benign Het
Mindy2 T C 9: 70,631,033 D340G probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tmem18 A G 12: 30,588,721 R133G unknown Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Other mutations in Fundc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00774:Fundc1 APN X 17558013 critical splice acceptor site probably null
U24488:Fundc1 UTSW X 17568103 missense probably damaging 1.00
Posted On2015-04-16