Incidental Mutation 'IGL02935:4833439L19Rik'
ID 364290
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 # IGL02935
Quality Score
Status
Chromosome 13
Chromosomal Location 54699031-54713195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54709675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 13 (P13L)
Ref Sequence ENSEMBL: ENSMUSP00000026989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000126295] [ENSMUST00000132136] [ENSMUST00000143144] [ENSMUST00000153065]
AlphaFold Q9DBN4
Predicted Effect possibly damaging
Transcript: ENSMUST00000026989
AA Change: P13L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871
AA Change: P13L

DomainStartEndE-ValueType
Pfam:P33MONOX 15 303 5.8e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126295
Predicted Effect probably benign
Transcript: ENSMUST00000132136
AA Change: P13L

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121083
Gene: ENSMUSG00000025871
AA Change: P13L

DomainStartEndE-ValueType
Pfam:P33MONOX 14 69 4.3e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143144
AA Change: P13L

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120615
Gene: ENSMUSG00000025871
AA Change: P13L

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Fuca2 G A 10: 13,383,063 (GRCm39) E344K probably null Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mlec C A 5: 115,295,873 (GRCm39) R74L probably benign Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Mtch1 T C 17: 29,555,184 (GRCm39) D288G probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or2bd2 G A 7: 6,443,753 (GRCm39) V285M possibly damaging Het
Or51b4 T C 7: 103,530,871 (GRCm39) N193S probably damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Ythdc2 C T 18: 44,988,112 (GRCm39) R656C probably damaging Het
Other mutations in 4833439L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:4833439L19Rik APN 13 54,704,338 (GRCm39) critical splice donor site probably null
IGL02819:4833439L19Rik APN 13 54,712,033 (GRCm39) intron probably benign
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