Incidental Mutation 'IGL02962:9530068E07Rik'
ID365404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530068E07Rik
Ensembl Gene ENSMUSG00000036275
Gene NameRIKEN cDNA 9530068E07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL02962
Quality Score
Status
Chromosome11
Chromosomal Location52396428-52408728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52403535 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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