Incidental Mutation 'IGL01129:4933436I01Rik'
ID53352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933436I01Rik
Ensembl Gene ENSMUSG00000025288
Gene NameRIKEN cDNA 4933436I01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01129
Quality Score
Status
ChromosomeX
Chromosomal Location67919864-67921450 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67920604 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 216 (F216L)
Ref Sequence ENSEMBL: ENSMUSP00000026325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026325]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026325
AA Change: F216L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026325
Gene: ENSMUSG00000025288
AA Change: F216L

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
low complexity region 79 90 N/A INTRINSIC
low complexity region 91 105 N/A INTRINSIC
low complexity region 146 157 N/A INTRINSIC
internal_repeat_1 172 240 2.42e-18 PROSPERO
internal_repeat_1 280 348 2.42e-18 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bace2 T G 16: 97,408,430 N181K probably damaging Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ckap2 C T 8: 22,169,758 G569D probably damaging Het
Col11a1 T C 3: 114,185,873 probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Creb3l2 A T 6: 37,353,634 probably benign Het
Cuedc1 T A 11: 88,183,254 S205T possibly damaging Het
Cux1 G A 5: 136,304,718 probably benign Het
Cyp3a59 A G 5: 146,098,279 M256V probably benign Het
Gzf1 C A 2: 148,690,996 P690Q probably damaging Het
Lrch3 T A 16: 32,994,965 D575E probably benign Het
Lypd3 A G 7: 24,640,593 M362V probably benign Het
Mppe1 C A 18: 67,237,444 G61* probably null Het
Nr2c2 T A 6: 92,158,416 D328E probably benign Het
Olfr6 T C 7: 106,956,427 N170D probably damaging Het
Pfn4 T A 12: 4,775,505 V114E probably damaging Het
Rab14 T C 2: 35,183,386 probably benign Het
Slc30a9 G T 5: 67,342,143 G315C probably damaging Het
Spag16 A T 1: 69,896,522 S303C probably benign Het
Spata16 C T 3: 26,913,184 probably benign Het
Srcap T C 7: 127,521,651 V161A probably damaging Het
Srd5a3 A G 5: 76,149,746 probably benign Het
Vmn1r18 A T 6: 57,390,497 F24Y probably benign Het
Vmn1r78 A T 7: 12,153,238 T259S probably benign Het
Zc3h13 G A 14: 75,335,999 D1527N probably damaging Het
Other mutations in 4933436I01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1974:4933436I01Rik UTSW X 67920049 nonsense probably null
R2062:4933436I01Rik UTSW X 67920702 missense probably benign 0.01
R2063:4933436I01Rik UTSW X 67920702 missense probably benign 0.01
R2064:4933436I01Rik UTSW X 67920702 missense probably benign 0.01
R2065:4933436I01Rik UTSW X 67920702 missense probably benign 0.01
R2066:4933436I01Rik UTSW X 67920702 missense probably benign 0.01
R2068:4933436I01Rik UTSW X 67920702 missense probably benign 0.01
R3147:4933436I01Rik UTSW X 67921378 missense probably benign 0.06
R3148:4933436I01Rik UTSW X 67921378 missense probably benign 0.06
Z1177:4933436I01Rik UTSW X 67920992 missense probably damaging 1.00
Posted On2013-06-21