Incidental Mutation 'IGL02053:4922502D21Rik'
ID185140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4922502D21Rik
Ensembl Gene ENSMUSG00000047720
Gene NameRIKEN cDNA 4922502D21 gene
SynonymsLOC381816
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL02053
Quality Score
Status
Chromosome6
Chromosomal Location129322164-129331796 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129326762 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 80 (Q80R)
Ref Sequence ENSEMBL: ENSMUSP00000062024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051283]
Predicted Effect probably benign
Transcript: ENSMUST00000051283
AA Change: Q80R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062024
Gene: ENSMUSG00000047720
AA Change: Q80R

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
CLECT 71 183 1.32e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203159
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T C 17: 43,450,167 S918P possibly damaging Het
AY358078 G T 14: 51,805,552 E232D unknown Het
Baz1b C A 5: 135,242,466 P1301Q probably benign Het
Btn2a2 T C 13: 23,478,820 D311G probably damaging Het
Cept1 A T 3: 106,533,396 L149Q probably damaging Het
Col6a4 T A 9: 106,063,095 D1212V possibly damaging Het
Cyp2j8 T C 4: 96,470,654 I343V probably damaging Het
Dapk2 A G 9: 66,220,745 I102V probably benign Het
Dntt A G 19: 41,046,274 T321A probably benign Het
Ezh1 T C 11: 101,199,943 probably benign Het
Fam189a1 C T 7: 64,819,842 G53R probably damaging Het
Fbxw5 T C 2: 25,503,441 V18A probably damaging Het
Fgd5 T A 6: 92,053,244 C1109S probably benign Het
Ms4a6c A G 19: 11,478,222 I132V probably benign Het
Ncoa3 T C 2: 166,054,834 L515P probably damaging Het
Nfic A G 10: 81,420,551 V115A probably damaging Het
P4ha2 A G 11: 54,117,587 T207A probably benign Het
Pde10a G T 17: 8,974,769 V732L probably damaging Het
Pfas A T 11: 68,992,953 L626Q probably damaging Het
Plekha6 A G 1: 133,272,492 N270D probably damaging Het
Prdm10 T C 9: 31,360,848 S977P probably benign Het
Ptprm A G 17: 66,693,841 L1073P probably damaging Het
Rai14 A C 15: 10,633,156 H49Q probably benign Het
Ros1 T A 10: 52,162,720 I394F probably damaging Het
Sec14l1 C T 11: 117,156,912 probably benign Het
Sema5a A G 15: 32,550,267 I151V probably benign Het
Tet2 T A 3: 133,488,523 N50I possibly damaging Het
Tubal3 A C 13: 3,933,159 D313A probably damaging Het
Usp45 A G 4: 21,824,553 N483S probably benign Het
Other mutations in 4922502D21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02298:4922502D21Rik APN 6 129331564 start codon destroyed probably benign 0.09
IGL03350:4922502D21Rik APN 6 129331023 missense probably benign 0.07
R0178:4922502D21Rik UTSW 6 129326823 missense probably benign 0.01
R0270:4922502D21Rik UTSW 6 129325608 nonsense probably null
R0414:4922502D21Rik UTSW 6 129326850 unclassified probably benign
R0648:4922502D21Rik UTSW 6 129330969 missense probably benign 0.03
R1065:4922502D21Rik UTSW 6 129323050 missense possibly damaging 0.83
R2075:4922502D21Rik UTSW 6 129326703 missense probably benign 0.01
R6163:4922502D21Rik UTSW 6 129326747 missense probably benign 0.00
R7092:4922502D21Rik UTSW 6 129323000 missense probably benign 0.12
R7107:4922502D21Rik UTSW 6 129322952 missense probably damaging 1.00
R7360:4922502D21Rik UTSW 6 129326747 missense probably benign 0.00
R7369:4922502D21Rik UTSW 6 129331533 missense possibly damaging 0.68
R7414:4922502D21Rik UTSW 6 129325633 missense probably benign 0.17
R7937:4922502D21Rik UTSW 6 129331011 missense possibly damaging 0.84
R8345:4922502D21Rik UTSW 6 129325630 missense probably damaging 1.00
R8402:4922502D21Rik UTSW 6 129323044 missense possibly damaging 0.94
X0026:4922502D21Rik UTSW 6 129326693 missense probably benign 0.03
Posted On2014-05-07