Incidental Mutation 'IGL02962:9530068E07Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530068E07Rik
Ensembl Gene ENSMUSG00000036275
Gene NameRIKEN cDNA 9530068E07 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL02962
Quality Score
Chromosomal Location52396428-52408728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52403535 bp
Amino Acid Change Valine to Alanine at position 209 (V209A)
Ref Sequence ENSEMBL: ENSMUSP00000048441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036952] [ENSMUST00000109057]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036952
AA Change: V209A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048441
Gene: ENSMUSG00000036275
AA Change: V209A

signal peptide 1 44 N/A INTRINSIC
low complexity region 82 116 N/A INTRINSIC
transmembrane domain 192 211 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109057
AA Change: V201A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104685
Gene: ENSMUSG00000036275
AA Change: V201A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Rpgrip1l A T 8: 91,270,362 V28D possibly damaging Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in 9530068E07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:9530068E07Rik APN 11 52403366 missense probably damaging 0.99
IGL02133:9530068E07Rik APN 11 52403510 missense probably damaging 1.00
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 On2015-12-18