Incidental Mutation 'IGL00769:A730017C20Rik'
ID8507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A730017C20Rik
Ensembl Gene ENSMUSG00000050875
Gene NameRIKEN cDNA A730017C20 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00769
Quality Score
Status
Chromosome18
Chromosomal Location59062248-59076962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59072277 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 88 (S88P)
Ref Sequence ENSEMBL: ENSMUSP00000125952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058633] [ENSMUST00000117064] [ENSMUST00000118510] [ENSMUST00000165666] [ENSMUST00000175830]
Predicted Effect probably damaging
Transcript: ENSMUST00000058633
AA Change: S46P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875
AA Change: S46P

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117064
Predicted Effect probably damaging
Transcript: ENSMUST00000118510
AA Change: S46P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875
AA Change: S46P

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154125
Predicted Effect probably damaging
Transcript: ENSMUST00000165666
AA Change: S88P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: S88P

DomainStartEndE-ValueType
Pfam:UPF0258 51 192 3.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175830
AA Change: S46P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875
AA Change: S46P

DomainStartEndE-ValueType
Pfam:UPF0258 4 150 6.2e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000175897
AA Change: S78P
SMART Domains Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875
AA Change: S78P

DomainStartEndE-ValueType
Pfam:UPF0258 25 146 4e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in A730017C20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:A730017C20Rik APN 18 59072308 missense probably damaging 0.99
IGL01621:A730017C20Rik APN 18 59062386 start codon destroyed probably null 0.27
IGL02546:A730017C20Rik APN 18 59072275 missense probably damaging 0.98
R0200:A730017C20Rik UTSW 18 59062459 splice site probably null
R0390:A730017C20Rik UTSW 18 59075688 missense probably damaging 0.98
R0470:A730017C20Rik UTSW 18 59075639 missense probably damaging 1.00
R0608:A730017C20Rik UTSW 18 59062459 splice site probably null
R1980:A730017C20Rik UTSW 18 59075667 missense probably damaging 0.96
R4916:A730017C20Rik UTSW 18 59072205 missense probably damaging 0.98
R6285:A730017C20Rik UTSW 18 59072224 missense probably benign 0.02
R7252:A730017C20Rik UTSW 18 59066908 critical splice acceptor site probably null
Posted On2012-12-06