Incidental Mutation 'IGL02073:6330409D20Rik'
ID185911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 6330409D20Rik
Ensembl Gene ENSMUSG00000009551
Gene NameRIKEN cDNA 6330409D20 gene
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02073
Quality Score
Status
Chromosome2
Chromosomal Location32732620-32741016 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to G at 32740686 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009695] [ENSMUST00000074248] [ENSMUST00000113242]
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: 157,208,402 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in 6330409D20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1900:6330409D20Rik UTSW 2 32740547 intron probably benign
R5196:6330409D20Rik UTSW 2 32740540 intron probably benign
R6579:6330409D20Rik UTSW 2 32740651 intron probably benign
R7151:6330409D20Rik UTSW 2 32740606 missense unknown
Posted On2014-05-07