Incidental Mutation 'IGL01747:4833439L19Rik'
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ID153057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4833439L19Rik
Ensembl Gene ENSMUSG00000025871
Gene NameRIKEN cDNA 4833439L19 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL01747
Quality Score
Status
Chromosome13
Chromosomal Location54551218-54565435 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 54556525 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000143144] [ENSMUST00000153065]
Predicted Effect probably null
Transcript: ENSMUST00000026989
SMART Domains Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 15 303 5.8e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143144
SMART Domains Protein: ENSMUSP00000120615
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 14 133 9.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150938
Predicted Effect probably null
Transcript: ENSMUST00000153065
SMART Domains Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 1 284 7e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153708
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,278,087 N986S probably benign Het
Adamts17 G A 7: 67,052,011 G702D probably damaging Het
Aox3 G A 1: 58,159,658 V671M probably damaging Het
Asnsd1 A T 1: 53,348,095 Y124* probably null Het
Astn2 A T 4: 65,794,618 M595K probably benign Het
Col2a1 T C 15: 97,991,392 probably benign Het
Dhrs2 A T 14: 55,234,663 I4L probably benign Het
Fbxo4 A T 15: 3,965,755 L369* probably null Het
Gpbp1 G A 13: 111,453,050 R129C probably damaging Het
Lrp1b T A 2: 40,860,685 I2956L probably damaging Het
Myo16 C T 8: 10,604,877 T1843I probably damaging Het
Olfr1087 T C 2: 86,690,701 I91M possibly damaging Het
Olfr342 T C 2: 36,527,832 L140P probably damaging Het
Pcdhb2 T G 18: 37,296,303 V86G probably damaging Het
Pskh1 T C 8: 105,913,204 M172T probably damaging Het
Slc38a10 T C 11: 120,134,774 probably benign Het
Spry2 C T 14: 105,893,054 D233N probably damaging Het
Tmem163 T A 1: 127,668,720 R84W probably damaging Het
Trappc11 T C 8: 47,519,621 I306V probably benign Het
Virma T C 4: 11,526,877 L1092P probably damaging Het
Vmn2r98 A G 17: 19,066,440 Y400C probably damaging Het
Other mutations in 4833439L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02819:4833439L19Rik APN 13 54564220 intron probably benign
IGL02935:4833439L19Rik APN 13 54561862 missense possibly damaging 0.90
R0508:4833439L19Rik UTSW 13 54553050 unclassified probably null
R3900:4833439L19Rik UTSW 13 54552968 missense probably damaging 0.99
R5091:4833439L19Rik UTSW 13 54553244 missense probably damaging 1.00
R5737:4833439L19Rik UTSW 13 54559242 missense probably damaging 0.99
Posted On2014-02-04