Incidental Mutation 'IGL03024:D930020B18Rik'
ID408102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930020B18Rik
Ensembl Gene ENSMUSG00000047642
Gene NameRIKEN cDNA D930020B18 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03024
Quality Score
Status
Chromosome10
Chromosomal Location121641588-121693915 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 121685622 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120642] [ENSMUST00000132744] [ENSMUST00000140802]
Predicted Effect probably benign
Transcript: ENSMUST00000120642
SMART Domains Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642

DomainStartEndE-ValueType
Pfam:DUF4551 11 617 3.2e-237 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132744
SMART Domains Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642

DomainStartEndE-ValueType
Pfam:DUF4551 1 148 3.6e-66 PFAM
Pfam:DUF4551 142 443 6.1e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140802
SMART Domains Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642

DomainStartEndE-ValueType
Pfam:DUF4551 1 151 8.7e-68 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 8,993,632 F257L probably benign Het
Aaas A G 15: 102,350,491 probably benign Het
AI661453 C T 17: 47,446,588 R57W probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bahd1 T C 2: 118,916,116 V72A probably damaging Het
Bcl3 A G 7: 19,809,134 probably benign Het
Blnk A T 19: 40,994,002 probably benign Het
Cd81 T C 7: 143,067,352 I230T probably benign Het
Cdc20b A T 13: 113,091,042 R485S possibly damaging Het
Cenpp C A 13: 49,464,254 A273S probably benign Het
Cep295 A G 9: 15,325,572 V2022A probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cfap61 C A 2: 145,939,999 probably benign Het
Col8a1 T A 16: 57,628,364 H261L unknown Het
Cyp2j5 A T 4: 96,629,523 M484K probably benign Het
Dhdds A T 4: 133,982,849 L203Q probably damaging Het
Dusp6 A G 10: 99,266,294 T381A probably damaging Het
Fnbp4 A G 2: 90,751,179 D192G probably benign Het
Gbp2 G T 3: 142,632,019 V299F probably damaging Het
Gfpt1 G T 6: 87,053,831 V66F probably damaging Het
Heatr1 T C 13: 12,407,509 probably benign Het
Ikbkap A G 4: 56,774,686 probably null Het
Irf8 T A 8: 120,753,358 S112T probably damaging Het
Jmy G T 13: 93,499,199 N36K probably damaging Het
Kcnt2 T C 1: 140,570,455 I866T probably benign Het
Kif1c A T 11: 70,705,189 M210L probably damaging Het
Kng1 G A 16: 23,074,692 V272I possibly damaging Het
Lrig2 A C 3: 104,494,073 M166R probably damaging Het
Mastl A G 2: 23,139,919 L265P probably damaging Het
Mmp27 A G 9: 7,581,376 T547A probably benign Het
Myh4 T C 11: 67,248,479 C541R probably damaging Het
Naip2 A T 13: 100,189,354 F15L possibly damaging Het
Nipal1 G T 5: 72,663,625 probably null Het
Nrp2 A T 1: 62,771,734 N645Y probably damaging Het
Olfr1284 T A 2: 111,379,590 F197I possibly damaging Het
Olfr348 T A 2: 36,786,846 F107Y possibly damaging Het
Olfr39 T A 9: 20,285,984 M103K probably benign Het
Plcl1 T A 1: 55,695,787 S96T probably damaging Het
Prl2c1 A C 13: 27,856,541 D139A probably benign Het
Prmt5 A T 14: 54,516,598 M43K possibly damaging Het
Ptpn21 T A 12: 98,680,056 M1048L probably benign Het
Ptprq T C 10: 107,685,566 E653G possibly damaging Het
Rbm6 A G 9: 107,787,368 S689P probably damaging Het
Rtn3 A G 19: 7,483,090 probably benign Het
Shoc2 T C 19: 54,003,027 I241T probably benign Het
Sipa1 A T 19: 5,656,161 D380E probably damaging Het
Slc1a6 T C 10: 78,814,608 V560A probably benign Het
Speer2 T C 16: 69,858,115 H154R possibly damaging Het
Tlk1 A T 2: 70,746,036 C247* probably null Het
Trim15 A G 17: 36,866,893 L70P probably damaging Het
Ttc9b T C 7: 27,654,933 L148P probably damaging Het
Vwa8 C T 14: 78,995,098 P627S probably benign Het
Other mutations in D930020B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:D930020B18Rik APN 10 121685584 missense probably damaging 1.00
IGL01669:D930020B18Rik APN 10 121683961 missense probably benign 0.03
IGL01793:D930020B18Rik APN 10 121671831 missense probably damaging 1.00
IGL01907:D930020B18Rik APN 10 121642010 missense probably damaging 0.97
IGL01981:D930020B18Rik APN 10 121692414 missense probably damaging 0.98
IGL02545:D930020B18Rik APN 10 121689933 missense possibly damaging 0.87
R0022:D930020B18Rik UTSW 10 121671770 missense probably damaging 0.97
R0023:D930020B18Rik UTSW 10 121689821 missense probably damaging 0.99
R1872:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R2340:D930020B18Rik UTSW 10 121654836 missense probably damaging 1.00
R4074:D930020B18Rik UTSW 10 121656218 intron probably benign
R4990:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4990:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R5096:D930020B18Rik UTSW 10 121667804 missense probably benign 0.19
R5677:D930020B18Rik UTSW 10 121669201 missense probably benign 0.00
R6401:D930020B18Rik UTSW 10 121641857 missense possibly damaging 0.95
R6481:D930020B18Rik UTSW 10 121661148 critical splice donor site probably null
R7070:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R7250:D930020B18Rik UTSW 10 121671831 missense probably damaging 1.00
R7408:D930020B18Rik UTSW 10 121689834 missense probably damaging 1.00
R7446:D930020B18Rik UTSW 10 121667745 missense possibly damaging 0.94
X0021:D930020B18Rik UTSW 10 121641885 missense probably null 1.00
Posted On2016-08-02