Incidental Mutation 'R5298:D330020A13Rik'
ID 405530
Institutional Source Beutler Lab
Gene Symbol D330020A13Rik
Ensembl Gene ENSMUSG00000097481
Gene Name RIKEN cDNA D330020A13 gene
Synonyms ENSMUSG00000053059
MMRRC Submission 042881-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5298 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 120271325-120272393 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 120271777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057283] [ENSMUST00000181956] [ENSMUST00000212457]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057283
SMART Domains Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
PA14 129 276 1.16e-21 SMART
low complexity region 591 612 N/A INTRINSIC
Pfam:CHGN 650 985 3.9e-29 PFAM
Pfam:Glyco_transf_7C 896 974 3.3e-14 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000181956
AA Change: L151P
SMART Domains Protein: ENSMUSP00000137733
Gene: ENSMUSG00000097481
AA Change: L151P

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
low complexity region 121 135 N/A INTRINSIC
low complexity region 146 156 N/A INTRINSIC
low complexity region 163 184 N/A INTRINSIC
low complexity region 194 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212457
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,086 (GRCm39) V287A possibly damaging Het
Adat2 A G 10: 13,432,650 (GRCm39) N51D probably benign Het
Alms1-ps1 T C 6: 85,729,100 (GRCm39) noncoding transcript Het
Ccdc97 A G 7: 25,415,432 (GRCm39) V12A probably damaging Het
Cdcp2 T C 4: 106,964,182 (GRCm39) V344A probably benign Het
Clasp1 A G 1: 118,475,650 (GRCm39) D929G possibly damaging Het
Clip4 A G 17: 72,141,220 (GRCm39) N525D probably damaging Het
Csde1 T A 3: 102,954,525 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Fuca1 C A 4: 135,664,237 (GRCm39) Y374* probably null Het
Gle1 C G 2: 29,838,955 (GRCm39) P457A probably benign Het
Hadhb T C 5: 30,382,009 (GRCm39) probably null Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lef1 A T 3: 130,988,316 (GRCm39) R294S possibly damaging Het
Lrriq4 G T 3: 30,699,481 (GRCm39) M1I probably null Het
Magi2 T C 5: 20,774,160 (GRCm39) S884P probably damaging Het
Mon2 A G 10: 122,846,511 (GRCm39) I1353T probably benign Het
Or4c127 T A 2: 89,832,804 (GRCm39) L18Q possibly damaging Het
Or5p81 A G 7: 108,267,279 (GRCm39) I219V probably benign Het
Parg C A 14: 31,924,210 (GRCm39) A3E probably damaging Het
Per3 A T 4: 151,113,666 (GRCm39) D297E probably damaging Het
Pkhd1l1 A T 15: 44,367,442 (GRCm39) Y780F probably benign Het
Plcg2 A G 8: 118,331,988 (GRCm39) Y858C probably benign Het
Prkca A T 11: 107,903,510 (GRCm39) N287K probably damaging Het
Qsox2 A C 2: 26,104,074 (GRCm39) S484A probably damaging Het
Reep4 G A 14: 70,785,637 (GRCm39) G225D possibly damaging Het
Scn4a T C 11: 106,230,212 (GRCm39) E532G probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc23a1 A G 18: 35,755,563 (GRCm39) probably null Het
Sowaha C T 11: 53,370,355 (GRCm39) R127Q probably benign Het
Spag9 T C 11: 93,990,961 (GRCm39) W626R probably damaging Het
Tasor2 T C 13: 3,645,613 (GRCm39) probably null Het
Trim45 A G 3: 100,832,787 (GRCm39) D340G probably damaging Het
Vmn1r193 A T 13: 22,403,725 (GRCm39) F89Y probably damaging Het
Zfp507 T C 7: 35,475,421 (GRCm39) N931D probably damaging Het
Other mutations in D330020A13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7892:D330020A13Rik UTSW 6 120,271,819 (GRCm39) missense unknown
R8998:D330020A13Rik UTSW 6 120,271,890 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAGTCCCACCGATACTACG -3'
(R):5'- AACTCCAAGCCGGTGAGTAC -3'

Sequencing Primer
(F):5'- TCCTCAGCAGCTTGATCGG -3'
(R):5'- AGGGACCAGCTCTCTCTG -3'
Posted On 2016-07-22