Incidental Mutation 'Y4340:E330009J07Rik'
ID200614
Institutional Source Beutler Lab
Gene Symbol E330009J07Rik
Ensembl Gene ENSMUSG00000037172
Gene NameRIKEN cDNA E330009J07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #Y4340 ()
Quality Score105
Status Not validated
Chromosome6
Chromosomal Location40401375-40436135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40436058 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 23 (Q23L)
Ref Sequence ENSEMBL: ENSMUSP00000099031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039008] [ENSMUST00000101492] [ENSMUST00000201712] [ENSMUST00000202464]
Predicted Effect probably benign
Transcript: ENSMUST00000039008
AA Change: Q23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045103
Gene: ENSMUSG00000037172
AA Change: Q23L

DomainStartEndE-ValueType
low complexity region 30 60 N/A INTRINSIC
Pfam:DUF2347 80 347 3.4e-79 PFAM
Pfam:SPA 234 345 5.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101492
AA Change: Q23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099031
Gene: ENSMUSG00000037172
AA Change: Q23L

DomainStartEndE-ValueType
low complexity region 30 60 N/A INTRINSIC
Pfam:DUF2347 80 347 3.2e-78 PFAM
Pfam:SPA 234 345 6.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200994
Predicted Effect probably benign
Transcript: ENSMUST00000201712
SMART Domains Protein: ENSMUSP00000143916
Gene: ENSMUSG00000037172

DomainStartEndE-ValueType
Pfam:DUF2347 15 133 1.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202464
SMART Domains Protein: ENSMUSP00000144628
Gene: ENSMUSG00000037159

DomainStartEndE-ValueType
low complexity region 117 128 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 2 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ush2a C T 1: 188,743,629 T2921M possibly damaging Het
Zfp28 C A 7: 6,394,657 T697N probably damaging Het
Other mutations in E330009J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:E330009J07Rik APN 6 40418539 missense probably benign 0.00
IGL03143:E330009J07Rik APN 6 40422894 splice site probably benign
R1812:E330009J07Rik UTSW 6 40409431 missense probably benign 0.02
R1928:E330009J07Rik UTSW 6 40411714 missense probably benign 0.14
R2443:E330009J07Rik UTSW 6 40406776 missense probably damaging 0.99
R3012:E330009J07Rik UTSW 6 40435992 missense probably benign
R6913:E330009J07Rik UTSW 6 40406917 missense possibly damaging 0.91
R7318:E330009J07Rik UTSW 6 40409164 missense possibly damaging 0.72
R7456:E330009J07Rik UTSW 6 40406840 missense probably benign 0.33
R8087:E330009J07Rik UTSW 6 40418592 missense possibly damaging 0.94
R8231:E330009J07Rik UTSW 6 40418612 missense probably benign 0.35
Predicted Primers
Posted On2014-05-23