Incidental Mutation 'IGL00927:2310033P09Rik'
ID 28532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310033P09Rik
Ensembl Gene ENSMUSG00000020441
Gene Name RIKEN cDNA 2310033P09 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL00927
Quality Score
Status
Chromosome 11
Chromosomal Location 59099187-59101562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59099674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 92 (T92A)
Ref Sequence ENSEMBL: ENSMUSP00000020719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020719] [ENSMUST00000045697] [ENSMUST00000061242] [ENSMUST00000108784] [ENSMUST00000108785] [ENSMUST00000108786] [ENSMUST00000163300] [ENSMUST00000108787]
AlphaFold Q99LX5
Predicted Effect probably damaging
Transcript: ENSMUST00000020719
AA Change: T92A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020719
Gene: ENSMUSG00000020441
AA Change: T92A

DomainStartEndE-ValueType
Pfam:MMtag 8 83 5.7e-34 PFAM
low complexity region 117 135 N/A INTRINSIC
low complexity region 180 208 N/A INTRINSIC
low complexity region 215 224 N/A INTRINSIC
low complexity region 250 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045697
SMART Domains Protein: ENSMUSP00000048814
Gene: ENSMUSG00000036860

DomainStartEndE-ValueType
Pfam:Mitoc_L55 6 124 9.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061242
SMART Domains Protein: ENSMUSP00000079905
Gene: ENSMUSG00000048076

DomainStartEndE-ValueType
ARF 1 181 2.34e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101158
Predicted Effect probably benign
Transcript: ENSMUST00000108784
SMART Domains Protein: ENSMUSP00000104412
Gene: ENSMUSG00000036860

DomainStartEndE-ValueType
Pfam:Mitoc_L55 16 131 6.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108785
SMART Domains Protein: ENSMUSP00000104413
Gene: ENSMUSG00000036860

DomainStartEndE-ValueType
Pfam:Mitoc_L55 6 124 9.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108786
SMART Domains Protein: ENSMUSP00000104414
Gene: ENSMUSG00000036860

DomainStartEndE-ValueType
Pfam:Mitoc_L55 13 131 4.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163300
SMART Domains Protein: ENSMUSP00000126120
Gene: ENSMUSG00000048076

DomainStartEndE-ValueType
ARF 1 181 2.34e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108787
SMART Domains Protein: ENSMUSP00000104415
Gene: ENSMUSG00000036860

DomainStartEndE-ValueType
Pfam:Mitoc_L55 13 131 4.4e-55 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in 2310033P09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4378001:2310033P09Rik UTSW 11 59,099,802 (GRCm39) missense probably benign 0.04
R1476:2310033P09Rik UTSW 11 59,099,528 (GRCm39) unclassified probably benign
R1834:2310033P09Rik UTSW 11 59,099,313 (GRCm39) missense probably damaging 1.00
R2186:2310033P09Rik UTSW 11 59,099,340 (GRCm39) missense probably damaging 1.00
R5120:2310033P09Rik UTSW 11 59,101,061 (GRCm39) missense probably benign
R6025:2310033P09Rik UTSW 11 59,101,139 (GRCm39) frame shift probably null
R7657:2310033P09Rik UTSW 11 59,099,337 (GRCm39) missense possibly damaging 0.88
R9112:2310033P09Rik UTSW 11 59,100,806 (GRCm39) missense possibly damaging 0.85
Z1190:2310033P09Rik UTSW 11 59,099,193 (GRCm39) unclassified probably benign
Posted On 2013-04-17