Incidental Mutation 'IGL00927:2310033P09Rik'
ID28532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310033P09Rik
Ensembl Gene ENSMUSG00000020441
Gene NameRIKEN cDNA 2310033P09 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.207) question?
Stock #IGL00927
Quality Score
Status
Chromosome11
Chromosomal Location59208321-59210738 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59208848 bp
ZygosityHeterozygous
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] [ENSMUST00000108787] [ENSMUST00000163300]
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: ENSMUST00000108787
SMART Domains Protein: ENSMUSP00000104415
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Camp A T 9: 109,849,268 L56Q probably damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Cyb561d1 A G 3: 108,199,627 L34P probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Plekha8 C A 6: 54,629,837 Y372* probably null Het
Ralb T A 1: 119,471,776 N184I probably benign Het
Robo3 C T 9: 37,427,754 probably null Het
Slc41a1 T A 1: 131,839,176 L144H probably damaging Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zbtb7c T C 18: 76,145,850 S460P possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in 2310033P09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4378001:2310033P09Rik UTSW 11 59208976 missense probably benign 0.04
R1476:2310033P09Rik UTSW 11 59208702 unclassified probably benign
R1834:2310033P09Rik UTSW 11 59208487 missense probably damaging 1.00
R2186:2310033P09Rik UTSW 11 59208514 missense probably damaging 1.00
R5120:2310033P09Rik UTSW 11 59210235 missense probably benign
R6025:2310033P09Rik UTSW 11 59210313 frame shift probably null
R7657:2310033P09Rik UTSW 11 59208511 missense possibly damaging 0.88
Posted On2013-04-17