Incidental Mutation 'IGL02133:9530068E07Rik'
ID 281087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530068E07Rik
Ensembl Gene ENSMUSG00000036275
Gene Name RIKEN cDNA 9530068E07 gene
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL02133
Quality Score
Chromosome 11
Chromosomal Location 52396428-52408728 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52403510 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 193 (A193S)
Ref Sequence ENSEMBL: ENSMUSP00000104685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036952] [ENSMUST00000109057]
AlphaFold Q8K201
Predicted Effect probably damaging
Transcript: ENSMUST00000036952
AA Change: A201S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048441
Gene: ENSMUSG00000036275
AA Change: A201S

signal peptide 1 44 N/A INTRINSIC
low complexity region 82 116 N/A INTRINSIC
transmembrane domain 192 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109057
AA Change: A193S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104685
Gene: ENSMUSG00000036275
AA Change: A193S

signal peptide 1 36 N/A INTRINSIC
low complexity region 74 108 N/A INTRINSIC
transmembrane domain 184 203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153855
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in 9530068E07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:9530068E07Rik APN 11 52403366 missense probably damaging 0.99
IGL02962:9530068E07Rik APN 11 52403535 missense possibly damaging 0.94
IGL03116:9530068E07Rik APN 11 52403504 missense probably benign 0.14
R1186:9530068E07Rik UTSW 11 52403078 missense probably benign 0.17
R7357:9530068E07Rik UTSW 11 52406994 missense probably damaging 1.00
Posted On 2015-04-16