Incidental Mutation 'IGL03143:E330009J07Rik'
ID410797
Institutional Source Australian Phenomics Network (link to record)
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 #IGL03143
Quality Score
Status
Chromosome6
Chromosomal Location40401375-40436135 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 40422894 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039008] [ENSMUST00000101492] [ENSMUST00000201712]
Predicted Effect probably benign
Transcript: ENSMUST00000039008
SMART Domains Protein: ENSMUSP00000045103
Gene: ENSMUSG00000037172

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
SMART Domains Protein: ENSMUSP00000099031
Gene: ENSMUSG00000037172

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,909,267 L236R probably damaging Het
Agbl1 C T 7: 76,420,045 Q442* probably null Het
Ahrr G A 13: 74,257,495 Q108* probably null Het
Ankrd23 T C 1: 36,531,645 probably benign Het
Art5 A G 7: 102,097,897 I225T probably damaging Het
Asxl3 T C 18: 22,522,974 V1347A probably benign Het
Birc6 A G 17: 74,598,999 M1326V possibly damaging Het
Bpifb6 A C 2: 153,902,735 N32T probably damaging Het
Brip1 T A 11: 86,061,827 T1043S possibly damaging Het
Cbx5 A T 15: 103,213,105 V35E probably damaging Het
Ccdc175 T A 12: 72,136,058 M396L probably benign Het
Ceacam3 G T 7: 17,158,120 E263* probably null Het
Cyp4a12a A G 4: 115,302,003 T157A probably benign Het
Derl3 T C 10: 75,894,490 V129A possibly damaging Het
Dnajb1 T C 8: 83,608,474 I48T probably damaging Het
Dopey2 G A 16: 93,759,655 E349K probably benign Het
Fkbp10 A T 11: 100,422,754 I285F probably benign Het
Frrs1 A T 3: 116,899,187 T37S probably damaging Het
Gata2 A G 6: 88,204,695 Y377C probably damaging Het
Gm9789 T A 16: 89,157,995 probably benign Het
Itpkb T A 1: 180,333,368 V353D probably benign Het
Kcng4 T C 8: 119,625,770 E467G probably damaging Het
Kdm3a A T 6: 71,596,861 I906N probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lamc1 A T 1: 153,332,274 L89Q probably benign Het
Lef1 G T 3: 131,200,316 E314* probably null Het
Lpin3 T C 2: 160,903,598 probably benign Het
Mkl2 A G 16: 13,400,812 N452D possibly damaging Het
Naaladl1 C T 19: 6,114,866 T628I possibly damaging Het
Nell1 C T 7: 50,279,533 Q259* probably null Het
Neu2 G T 1: 87,596,976 E228* probably null Het
Olfr1051 T C 2: 86,276,236 N84D probably benign Het
Olfr1475 A T 19: 13,479,471 H242Q probably damaging Het
Olfr178 A G 16: 58,889,461 F253S probably damaging Het
Olfr935 T G 9: 38,995,436 probably benign Het
Osbpl6 T A 2: 76,548,372 D124E probably damaging Het
Palm T C 10: 79,816,783 probably benign Het
Parp8 C A 13: 116,910,961 probably benign Het
Pax7 A G 4: 139,829,487 probably benign Het
Pcnx3 G A 19: 5,685,395 R468W probably damaging Het
Pds5b T A 5: 150,779,257 V818D probably damaging Het
Piezo2 C T 18: 63,108,076 V694I probably damaging Het
Plk1 A G 7: 122,161,654 probably benign Het
Polb T C 8: 22,640,351 probably benign Het
Rad54b A G 4: 11,599,755 T320A probably damaging Het
Reg3b G A 6: 78,372,200 W103* probably null Het
Slc17a3 T G 13: 23,855,979 probably null Het
Snrnp200 C T 2: 127,230,042 probably benign Het
Stox2 T A 8: 47,193,804 H207L possibly damaging Het
Tbx15 A C 3: 99,352,198 M462L possibly damaging Het
Tcirg1 G A 19: 3,898,811 T458I probably damaging Het
Tnfrsf25 A G 4: 152,116,927 probably benign Het
Trank1 A G 9: 111,366,087 K1060E probably damaging Het
Ttc16 T C 2: 32,774,445 D3G possibly damaging Het
Vmn1r199 A C 13: 22,383,129 N155H probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Other mutations in E330009J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:E330009J07Rik APN 6 40418539 missense probably benign 0.00
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
Y4340:E330009J07Rik UTSW 6 40436058 missense probably benign
Posted On2016-08-02