Incidental Mutation 'IGL00936:8030411F24Rik'
ID26919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 8030411F24Rik
Ensembl Gene ENSMUSG00000027444
Gene NameRIKEN cDNA 8030411F24 gene
Synonymscystatin SC
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00936
Quality Score
Status
Chromosome2
Chromosomal Location148782009-148785937 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 148785804 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 124 (T124P)
Ref Sequence ENSEMBL: ENSMUSP00000028933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028932] [ENSMUST00000028933] [ENSMUST00000168443]
Predicted Effect probably benign
Transcript: ENSMUST00000028932
SMART Domains Protein: ENSMUSP00000028932
Gene: ENSMUSG00000027443

DomainStartEndE-ValueType
CY 18 126 9.57e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028933
AA Change: T124P

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028933
Gene: ENSMUSG00000027444
AA Change: T124P

DomainStartEndE-ValueType
CY 20 128 2.25e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168443
SMART Domains Protein: ENSMUSP00000126008
Gene: ENSMUSG00000027443

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 31 139 4.8e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,864,646 T1053A probably benign Het
Col13a1 A G 10: 61,876,290 M332T probably damaging Het
Cyth4 A G 15: 78,619,913 E361G probably benign Het
Mrps22 T C 9: 98,596,981 T114A possibly damaging Het
Nup155 T C 15: 8,128,405 probably benign Het
Olfr1467 T A 19: 13,364,624 probably benign Het
Slc35g3 T C 11: 69,760,491 probably null Het
Taar7f T C 10: 24,050,168 V220A probably benign Het
Other mutations in 8030411F24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:8030411F24Rik APN 2 148782250 missense possibly damaging 0.93
IGL02353:8030411F24Rik APN 2 148783467 splice site probably benign
IGL03088:8030411F24Rik APN 2 148783407 missense possibly damaging 0.81
R0078:8030411F24Rik UTSW 2 148785825 makesense probably null
R0465:8030411F24Rik UTSW 2 148783425 missense probably benign 0.14
R0542:8030411F24Rik UTSW 2 148782172 missense probably benign
R0723:8030411F24Rik UTSW 2 148783362 missense probably damaging 0.98
R2025:8030411F24Rik UTSW 2 148782228 missense probably damaging 0.98
R5153:8030411F24Rik UTSW 2 148783440 missense probably benign 0.12
R5360:8030411F24Rik UTSW 2 148783378 missense probably damaging 1.00
R5362:8030411F24Rik UTSW 2 148783378 missense probably damaging 1.00
R5363:8030411F24Rik UTSW 2 148783378 missense probably damaging 1.00
R8332:8030411F24Rik UTSW 2 148783457 missense probably damaging 0.98
Posted On2013-04-17