Incidental Mutation 'IGL02073:6330409D20Rik'
ID 185911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 6330409D20Rik
Ensembl Gene ENSMUSG00000009551
Gene Name RIKEN cDNA 6330409D20 gene
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02073
Quality Score
Status
Chromosome 2
Chromosomal Location 32622632-32631028 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 32630698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009695] [ENSMUST00000074248] [ENSMUST00000113242]
AlphaFold A2AK85
Predicted Effect unknown
Transcript: ENSMUST00000009695
AA Change: K25N
SMART Domains Protein: ENSMUSP00000009695
Gene: ENSMUSG00000009551
AA Change: K25N

DomainStartEndE-ValueType
low complexity region 73 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074248
SMART Domains Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
low complexity region 22 43 N/A INTRINSIC
low complexity region 86 98 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
low complexity region 190 207 N/A INTRINSIC
SH2 213 301 7.8e-21 SMART
low complexity region 333 348 N/A INTRINSIC
low complexity region 400 415 N/A INTRINSIC
low complexity region 422 436 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
RasGEF 576 849 8.18e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113242
SMART Domains Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
SH2 61 149 7.8e-21 SMART
low complexity region 181 196 N/A INTRINSIC
low complexity region 248 263 N/A INTRINSIC
low complexity region 270 284 N/A INTRINSIC
low complexity region 322 335 N/A INTRINSIC
RasGEF 424 697 8.18e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131101
SMART Domains Protein: ENSMUSP00000122613
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 37 54 N/A INTRINSIC
SH2 60 148 7.8e-21 SMART
low complexity region 180 195 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141670
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 156,914,039 (GRCm39) probably benign Het
Als2cl A G 9: 110,723,407 (GRCm39) K659E probably benign Het
Bbx G A 16: 50,022,854 (GRCm39) T702I probably damaging Het
Bcas3 A G 11: 85,448,263 (GRCm39) D405G probably damaging Het
Brpf3 A G 17: 29,026,370 (GRCm39) Y481C probably benign Het
Csnk1g1 T A 9: 65,909,533 (GRCm39) Y217N probably damaging Het
Cyp4f37 G T 17: 32,846,825 (GRCm39) V171L possibly damaging Het
Dock8 G A 19: 25,178,350 (GRCm39) probably null Het
Extl3 C A 14: 65,313,788 (GRCm39) G465W probably damaging Het
Fbxo10 A G 4: 45,046,349 (GRCm39) I587T possibly damaging Het
Fstl5 A C 3: 76,566,959 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,667,547 (GRCm39) N866S probably benign Het
Gm4871 T A 5: 144,969,388 (GRCm39) K44* probably null Het
Hnrnpul1 T C 7: 25,421,766 (GRCm39) probably benign Het
Jup A G 11: 100,274,215 (GRCm39) probably benign Het
Mccc2 A T 13: 100,136,783 (GRCm39) H57Q probably benign Het
Myo1a A T 10: 127,546,094 (GRCm39) D239V probably damaging Het
Ncapd3 T A 9: 26,974,612 (GRCm39) S695T probably benign Het
Ncor1 A T 11: 62,249,743 (GRCm39) S1052T probably damaging Het
Or5k8 A G 16: 58,644,169 (GRCm39) I301T probably benign Het
Or7g12 T A 9: 18,899,621 (GRCm39) N112K possibly damaging Het
Or8c10 C T 9: 38,279,603 (GRCm39) H244Y probably damaging Het
Pcnx3 A T 19: 5,729,414 (GRCm39) I526K probably damaging Het
Pcnx4 A G 12: 72,621,102 (GRCm39) D974G possibly damaging Het
Peg3 T C 7: 6,714,001 (GRCm39) E407G probably damaging Het
Polk A G 13: 96,641,059 (GRCm39) V166A probably damaging Het
Prkar2a A G 9: 108,610,322 (GRCm39) I184V probably damaging Het
Ptpra T C 2: 30,333,362 (GRCm39) S64P probably damaging Het
Rbsn A G 6: 92,166,340 (GRCm39) L768P probably damaging Het
Ripk3 C T 14: 56,023,482 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1b T C 11: 51,680,020 (GRCm39) probably benign Het
Slx A T X: 26,489,755 (GRCm39) W89R probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,070,104 (GRCm39) I2561V probably benign Het
Tasor2 T C 13: 3,624,721 (GRCm39) D1743G probably benign Het
Tm7sf3 A G 6: 146,525,208 (GRCm39) L79P possibly damaging Het
Trub1 A T 19: 57,441,379 (GRCm39) M1L probably benign Het
Unc80 A G 1: 66,651,386 (GRCm39) D1577G possibly damaging Het
Vat1 A T 11: 101,351,405 (GRCm39) M312K possibly damaging Het
Vmn1r17 T C 6: 57,337,787 (GRCm39) I193V probably benign Het
Vps13b A G 15: 35,875,732 (GRCm39) I2706V possibly damaging Het
Wls T C 3: 159,612,890 (GRCm39) probably null Het
Zfp955b A G 17: 33,519,564 (GRCm39) T11A possibly damaging Het
Other mutations in 6330409D20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1900:6330409D20Rik UTSW 2 32,630,559 (GRCm39) intron probably benign
R5196:6330409D20Rik UTSW 2 32,630,552 (GRCm39) intron probably benign
R6579:6330409D20Rik UTSW 2 32,630,663 (GRCm39) intron probably benign
R7151:6330409D20Rik UTSW 2 32,630,618 (GRCm39) missense unknown
R8327:6330409D20Rik UTSW 2 32,627,623 (GRCm39) missense unknown
Posted On 2014-05-07