Incidental Mutation 'IGL02819:4833439L19Rik'
ID 360933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4833439L19Rik
Ensembl Gene ENSMUSG00000025871
Gene Name RIKEN cDNA 4833439L19 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02819
Quality Score
Status
Chromosome 13
Chromosomal Location 54699031-54713195 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 54712033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000126295] [ENSMUST00000132136] [ENSMUST00000143144] [ENSMUST00000153065]
AlphaFold Q9DBN4
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 noncoding transcript
Transcript: ENSMUST00000153708
Predicted Effect probably benign
Transcript: ENSMUST00000153065
SMART Domains Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 1 284 7e-147 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in 4833439L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:4833439L19Rik APN 13 54,704,338 (GRCm39) critical splice donor site probably null
IGL02935:4833439L19Rik APN 13 54,709,675 (GRCm39) missense possibly damaging 0.90
R0508:4833439L19Rik UTSW 13 54,700,863 (GRCm39) splice site probably null
R3900:4833439L19Rik UTSW 13 54,700,781 (GRCm39) missense probably damaging 0.99
R5091:4833439L19Rik UTSW 13 54,701,057 (GRCm39) missense probably damaging 1.00
R5737:4833439L19Rik UTSW 13 54,707,055 (GRCm39) missense probably damaging 0.99
R7283:4833439L19Rik UTSW 13 54,700,504 (GRCm39) missense probably benign 0.29
R8783:4833439L19Rik UTSW 13 54,700,520 (GRCm39) missense probably benign
R9729:4833439L19Rik UTSW 13 54,700,519 (GRCm39) missense probably benign 0.31
Posted On 2015-12-18