Incidental Mutation 'IGL01129:4933436I01Rik'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933436I01Rik
Ensembl Gene ENSMUSG00000025288
Gene NameRIKEN cDNA 4933436I01 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01129
Quality Score
Chromosomal Location67919864-67921450 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67920604 bp
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

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