Incidental Mutation 'IGL00793:1700102P08Rik'
ID12411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700102P08Rik
Ensembl Gene ENSMUSG00000032611
Gene NameRIKEN cDNA 1700102P08 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL00793
Quality Score
Status
Chromosome9
Chromosomal Location108392805-108410934 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108397406 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 236 (D236G)
Ref Sequence ENSEMBL: ENSMUSP00000035234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035234] [ENSMUST00000035237] [ENSMUST00000192995] [ENSMUST00000194959]
Predicted Effect probably damaging
Transcript: ENSMUST00000035234
AA Change: D236G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000035237
SMART Domains Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612

DomainStartEndE-ValueType
DUSP 27 125 1.39e-46 SMART
Pfam:Ubiquitin_3 139 226 6.7e-34 PFAM
low complexity region 263 286 N/A INTRINSIC
Pfam:UCH 301 919 2.2e-84 PFAM
Pfam:UCH_1 302 507 2.8e-8 PFAM
Pfam:UCH_1 605 901 1.4e-15 PFAM
low complexity region 927 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192995
Predicted Effect probably benign
Transcript: ENSMUST00000194959
SMART Domains Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612

DomainStartEndE-ValueType
DUSP 27 125 5.5e-49 SMART
Pfam:Ubiquitin_3 139 226 1.7e-30 PFAM
Pfam:UCH 254 872 7e-89 PFAM
Pfam:UCH_1 255 469 3.5e-8 PFAM
Pfam:UCH_1 566 854 2.5e-14 PFAM
low complexity region 880 891 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Adam32 A T 8: 24,837,830 probably benign Het
Adm A G 7: 110,628,581 Y52C probably damaging Het
Aff4 A G 11: 53,411,990 T1097A probably damaging Het
Ccne1 A C 7: 38,106,301 V50G probably benign Het
Copb2 A G 9: 98,585,004 T636A probably benign Het
Cxadr C A 16: 78,334,227 Y210* probably null Het
Dnajc17 T C 2: 119,180,960 E163G probably benign Het
Dnmt3b T A 2: 153,672,502 M405K possibly damaging Het
Enpp7 A T 11: 118,990,545 N172I probably damaging Het
G2e3 T A 12: 51,367,762 S340T probably benign Het
Kat2b A G 17: 53,665,824 N722S probably benign Het
Kcnh5 C A 12: 75,114,346 V263F probably damaging Het
Ldlrad1 A G 4: 107,217,889 D211G probably damaging Het
Lrp1 A G 10: 127,542,205 V4082A possibly damaging Het
Mycbp2 A T 14: 103,126,753 V4370D possibly damaging Het
Npsr1 G T 9: 24,254,693 R125L probably damaging Het
Osbpl9 T C 4: 109,087,431 I116V probably damaging Het
Parp4 G T 14: 56,602,877 A580S possibly damaging Het
Pfkm T C 15: 98,125,594 V391A probably benign Het
Psen1 T A 12: 83,723,018 S170T probably damaging Het
Rsbn1l C T 5: 20,896,155 V796I probably benign Het
Slc39a8 A G 3: 135,884,733 I396V probably benign Het
Spag16 T C 1: 70,299,650 C436R probably damaging Het
Stpg1 A G 4: 135,506,407 probably benign Het
Tmem57 A G 4: 134,828,206 S319P probably damaging Het
Tmem86b A G 7: 4,628,757 probably benign Het
Trf A G 9: 103,226,143 probably benign Het
Trim61 A T 8: 65,014,091 Y173N possibly damaging Het
Wrap73 T C 4: 154,152,639 S228P probably damaging Het
Zfc3h1 T C 10: 115,416,874 V1364A probably benign Het
Other mutations in 1700102P08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1199:1700102P08Rik UTSW 9 108393477 missense possibly damaging 0.71
R1885:1700102P08Rik UTSW 9 108393610 missense possibly damaging 0.84
R1886:1700102P08Rik UTSW 9 108393610 missense possibly damaging 0.84
R1887:1700102P08Rik UTSW 9 108393610 missense possibly damaging 0.84
R4455:1700102P08Rik UTSW 9 108397196 missense possibly damaging 0.65
R4926:1700102P08Rik UTSW 9 108395299 missense probably damaging 0.98
R5282:1700102P08Rik UTSW 9 108393240 start codon destroyed probably null 1.00
R5645:1700102P08Rik UTSW 9 108397204 missense probably damaging 1.00
R6318:1700102P08Rik UTSW 9 108393275 missense possibly damaging 0.71
Posted On2012-12-06