Incidental Mutation 'IGL02819:4833439L19Rik'
ID360933
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: 0.105) question?
Stock #IGL02819
Quality Score
Status
Chromosome13
Chromosomal Location54551218-54565435 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 54564220 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000126295] [ENSMUST00000132136] [ENSMUST00000143144] [ENSMUST00000153065]
Predicted Effect probably benign
Transcript: ENSMUST00000026989
SMART Domains Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 15 303 5.8e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126295
Predicted Effect probably benign
Transcript: ENSMUST00000132136
SMART Domains Protein: ENSMUSP00000121083
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 14 69 4.3e-29 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: ENSMUST00000147318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150938
Predicted Effect probably benign
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,406,424 N470K probably benign Het
Adamtsl3 A T 7: 82,574,121 N1037Y probably damaging Het
Adcy3 T C 12: 4,206,986 probably benign Het
Ankrd35 A G 3: 96,690,208 D983G possibly damaging Het
Asf1a A G 10: 53,607,824 T118A probably benign Het
Atp2a3 T C 11: 72,977,207 Y389H probably damaging Het
Atp5b T C 10: 128,083,952 I63T probably damaging Het
C2cd5 A G 6: 143,083,220 Y98H probably benign Het
Caprin2 A G 6: 148,848,258 V518A probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clcn2 C A 16: 20,709,256 E487* probably null Het
Cog6 T A 3: 53,009,545 K184M probably damaging Het
Cpn1 A G 19: 43,968,468 Y286H probably damaging Het
Cpne9 A T 6: 113,300,663 S448C probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Cys1 T C 12: 24,667,170 E132G possibly damaging Het
Depdc7 T C 2: 104,724,726 M280V probably benign Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Golga1 T A 2: 39,039,078 N318Y probably null Het
Hsd3b6 A G 3: 98,810,946 V34A probably benign Het
Krt9 A G 11: 100,191,520 I193T probably damaging Het
Lama4 A T 10: 39,026,569 I180F possibly damaging Het
Lamc1 T C 1: 153,250,661 T458A probably damaging Het
Lin28b A T 10: 45,470,059 M1K probably null Het
Myo16 T C 8: 10,322,600 C100R probably damaging Het
Nt5c3 A T 6: 56,883,733 M279K probably damaging Het
Ppfia2 A G 10: 106,906,394 Y1016C probably damaging Het
Rpl6 A G 5: 121,207,201 probably benign Het
Rpn2 G T 2: 157,316,210 probably null Het
Rspry1 T C 8: 94,654,256 V396A probably benign Het
Serpina3i C T 12: 104,268,502 T364I probably damaging Het
Shprh A G 10: 11,154,765 K242R possibly damaging Het
Slit3 A G 11: 35,171,590 N72S possibly damaging Het
Syt17 G A 7: 118,409,920 probably benign Het
Tatdn3 C A 1: 191,055,344 A114S probably benign Het
Tjp2 A G 19: 24,114,105 V564A probably damaging Het
Tmem117 T C 15: 94,879,372 probably benign Het
Tnfrsf8 T C 4: 145,269,133 E452G probably damaging Het
Tns1 T C 1: 73,937,248 D1147G probably damaging Het
Traf6 T C 2: 101,684,789 S97P probably damaging Het
Ttc28 A T 5: 111,266,583 E1321D probably benign Het
Other mutations in 4833439L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:4833439L19Rik APN 13 54556525 critical splice donor site probably null
IGL02935:4833439L19Rik APN 13 54561862 missense possibly damaging 0.90
R0508:4833439L19Rik UTSW 13 54553050 splice site 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
R7283:4833439L19Rik UTSW 13 54552691 missense probably benign 0.29
R8783:4833439L19Rik UTSW 13 54552707 missense probably benign
Posted On2015-12-18