Incidental Mutation 'IGL00427:D130052B06Rik'
ID 332392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D130052B06Rik
Ensembl Gene ENSMUSG00000073052
Gene Name RIKEN cDNA D130052B06 gene
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # IGL00427
Quality Score
Status
Chromosome 11
Chromosomal Location 33557803-33575315 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33573558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 97 (V97L)
Ref Sequence ENSEMBL: ENSMUSP00000098922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101371]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000101371
AA Change: V97L

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
AA Change: V97L

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 20 28 N/A INTRINSIC
internal_repeat_2 36 101 5.51e-11 PROSPERO
internal_repeat_1 68 122 4.83e-23 PROSPERO
internal_repeat_2 99 175 5.51e-11 PROSPERO
internal_repeat_1 122 176 4.83e-23 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,244,357 (GRCm39) D289G probably damaging Het
Adnp C T 2: 168,024,482 (GRCm39) D938N probably benign Het
Arpin T A 7: 79,577,423 (GRCm39) N208I probably benign Het
Cby3 A G 11: 50,248,638 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,497 (GRCm39) I246N probably damaging Het
Cnih4 T A 1: 180,981,312 (GRCm39) S28T probably damaging Het
Dchs1 T C 7: 105,407,631 (GRCm39) E2067G probably damaging Het
Dennd6a C T 14: 26,329,768 (GRCm39) T113I probably damaging Het
Dock4 T A 12: 40,882,305 (GRCm39) F1590L possibly damaging Het
Dop1a G T 9: 86,403,553 (GRCm39) Q1582H probably benign Het
Dop1a A T 9: 86,403,552 (GRCm39) Q1582L probably damaging Het
Dop1a C A 9: 86,403,551 (GRCm39) Q1582K possibly damaging Het
Ebna1bp2 A T 4: 118,483,018 (GRCm39) K291M probably damaging Het
Evpl G T 11: 116,125,331 (GRCm39) Q73K probably benign Het
Fam131b G T 6: 42,295,895 (GRCm39) T139K probably damaging Het
Golga3 A G 5: 110,368,753 (GRCm39) T1358A probably damaging Het
Hgf G A 5: 16,783,484 (GRCm39) D265N probably benign Het
Homer1 A G 13: 93,538,622 (GRCm39) N333S probably benign Het
Igkv17-134 A T 6: 67,697,968 (GRCm39) probably benign Het
Il16 T C 7: 83,301,666 (GRCm39) D152G probably benign Het
Ireb2 T C 9: 54,806,766 (GRCm39) probably benign Het
Itgb2 C T 10: 77,393,790 (GRCm39) T410I probably benign Het
Kctd14 C A 7: 97,106,919 (GRCm39) A111E possibly damaging Het
Lmod3 A C 6: 97,229,258 (GRCm39) V92G probably damaging Het
Lmtk2 A G 5: 144,070,973 (GRCm39) D83G probably damaging Het
Myh1 A G 11: 67,111,691 (GRCm39) E1682G probably damaging Het
Myo9a T A 9: 59,750,342 (GRCm39) probably benign Het
Nlrc4 T C 17: 74,754,087 (GRCm39) N99D probably benign Het
P2rx3 A G 2: 84,865,616 (GRCm39) Y10H probably damaging Het
Pcsk7 C A 9: 45,838,958 (GRCm39) D623E probably benign Het
Plxna1 A G 6: 89,297,980 (GRCm39) I1766T probably damaging Het
Ptk7 T C 17: 46,885,353 (GRCm39) Y691C probably damaging Het
Rec8 A T 14: 55,856,108 (GRCm39) T17S probably damaging Het
Rtraf-ps A C 3: 88,484,230 (GRCm39) probably benign Het
Ryr1 T C 7: 28,804,162 (GRCm39) probably benign Het
Scg3 T G 9: 75,570,519 (GRCm39) K345T probably damaging Het
Serpina3b A T 12: 104,099,200 (GRCm39) K238N probably benign Het
Slc38a9 T A 13: 112,838,152 (GRCm39) S306T probably damaging Het
Txndc16 A G 14: 45,382,547 (GRCm39) probably benign Het
Vmn1r238 T A 18: 3,123,243 (GRCm39) Y57F probably benign Het
Vmn2r104 A T 17: 20,258,501 (GRCm39) S548T probably damaging Het
Xrcc1 T A 7: 24,247,309 (GRCm39) probably null Het
Other mutations in D130052B06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:D130052B06Rik APN 11 33,549,402 (GRCm39) missense unknown
IGL01152:D130052B06Rik APN 11 33,573,620 (GRCm39) splice site probably null
IGL01744:D130052B06Rik APN 11 33,573,966 (GRCm39) missense unknown
IGL02829:D130052B06Rik APN 11 33,573,864 (GRCm39) missense probably benign 0.16
IGL02882:D130052B06Rik APN 11 33,573,780 (GRCm39) missense probably damaging 0.99
R0396:D130052B06Rik UTSW 11 33,573,391 (GRCm39) missense unknown
R0571:D130052B06Rik UTSW 11 33,573,922 (GRCm39) missense probably benign 0.00
R1467:D130052B06Rik UTSW 11 33,573,622 (GRCm39) splice site probably benign
R1706:D130052B06Rik UTSW 11 33,566,230 (GRCm39) missense unknown
R1733:D130052B06Rik UTSW 11 33,573,784 (GRCm39) missense probably benign 0.16
R6029:D130052B06Rik UTSW 11 33,573,477 (GRCm39) missense possibly damaging 0.62
R6045:D130052B06Rik UTSW 11 33,574,008 (GRCm39) missense unknown
R6269:D130052B06Rik UTSW 11 33,573,916 (GRCm39) missense possibly damaging 0.92
R7238:D130052B06Rik UTSW 11 33,573,594 (GRCm39) missense probably benign 0.01
R7240:D130052B06Rik UTSW 11 33,573,874 (GRCm39) missense possibly damaging 0.79
R7305:D130052B06Rik UTSW 11 33,573,355 (GRCm39) frame shift probably null
R9013:D130052B06Rik UTSW 11 33,573,491 (GRCm39) missense unknown
Posted On 2015-08-05