Incidental Mutation 'IGL03166:3110079O15Rik'
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ID411659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 3110079O15Rik
Ensembl Gene ENSMUSG00000026258
Gene NameRIKEN cDNA 3110079O15 gene
SynonymsSnorc
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #IGL03166
Quality Score
Status
Chromosome1
Chromosomal Location87470271-87475482 bp(+) (GRCm38)
Type of Mutation
DNA Base Change (assembly) A to C at 87475211 bp
ZygosityHeterozygous
Amino Acid Change
Predicted Effect probably benign
Transcript: ENSMUST00000027476
SMART Domains Protein: ENSMUSP00000027476
Gene: ENSMUSG00000026258

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DUF4690 26 121 7.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027477
SMART Domains Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 15 28 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
RhoGEF 187 366 8.16e-46 SMART
PH 400 513 1.2e-7 SMART
SH3 525 582 8.43e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068681
SMART Domains Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259

DomainStartEndE-ValueType
low complexity region 213 226 N/A INTRINSIC
RhoGEF 277 456 8.16e-46 SMART
PH 490 603 1.2e-7 SMART
SH3 615 672 8.43e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166463
Predicted Effect probably benign
Transcript: ENSMUST00000168235
SMART Domains Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259

DomainStartEndE-ValueType
Blast:RhoGEF 2 40 1e-16 BLAST
PH 74 187 1.2e-7 SMART
Blast:SH3 199 232 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191095
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Reduced viability of homozygous mutants is seen. Surviving male homozygous mutant mice exhibit decreased mean serum triglyceride levels when compared with controls. Female homozygous mutants exhibit decreased activity levels during the 12-hour habituation period of home-cage activity testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Ankfn1 G T 11: 89,538,438 A40D probably benign Het
Arhgap20 T A 9: 51,849,777 I940K possibly damaging Het
Arhgap24 T C 5: 102,875,686 probably benign Het
Bdp1 T C 13: 100,035,800 T2103A probably benign Het
Cep350 A G 1: 155,863,600 S2166P possibly damaging Het
Dlg2 T C 7: 91,900,730 probably benign Het
Fam160b2 A T 14: 70,590,176 C160S probably damaging Het
Fyco1 A T 9: 123,828,387 L908H probably benign Het
Gprc5b C A 7: 118,983,999 A216S probably benign Het
Lamc1 A G 1: 153,332,301 V80A probably benign Het
Lilra6 T C 7: 3,912,627 I370V possibly damaging Het
Lim2 T A 7: 43,430,623 C11* probably null Het
Lrp1b T A 2: 41,111,038 H2058L probably damaging Het
Lrp3 G T 7: 35,202,480 L659I probably benign Het
Lrrc8a T G 2: 30,255,365 S64A probably benign Het
Lsr C T 7: 30,962,097 probably null Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Man2c1 T A 9: 57,139,098 V479E probably damaging Het
Mtf2 T A 5: 108,106,720 D462E probably benign Het
Mx2 T C 16: 97,546,790 I205T probably damaging Het
Nos1 T A 5: 117,914,452 probably benign Het
Olfr78 T C 7: 102,742,047 N319D probably benign Het
Optc C T 1: 133,903,792 Het
Orm1 C A 4: 63,344,594 probably benign Het
Pdzd8 T C 19: 59,300,508 E820G probably damaging Het
Pkp1 A T 1: 135,878,124 M612K probably damaging Het
Pno1 T A 11: 17,204,513 probably null Het
Rbm34 T C 8: 126,970,856 Q35R probably damaging Het
Ryr3 A T 2: 112,641,112 Y4564* probably null Het
Slc34a3 T C 2: 25,232,174 I140V probably damaging Het
Slc43a1 T C 2: 84,857,356 I419T possibly damaging Het
Sltm C A 9: 70,542,969 A17E possibly damaging Het
Smpdl3b T C 4: 132,741,531 D125G probably benign Het
Supt3 G T 17: 44,923,219 A48S probably damaging Het
Tlr3 A G 8: 45,402,928 F72L probably benign Het
Trim36 T C 18: 46,212,321 E15G probably benign Het
Tubb4b-ps1 A T 5: 7,179,965 probably benign Het
Vmn2r68 T C 7: 85,222,123 T651A probably benign Het
Wdr76 G T 2: 121,534,306 V462F possibly damaging Het
Wnk2 C A 13: 49,071,044 G1112* probably null Het
Zfp868 A C 8: 69,612,314 C123W probably damaging Het
Zyg11b T A 4: 108,265,889 M294L probably benign Het
Other mutations in 3110079O15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02988:3110079O15Rik UTSW 1 87475204 splice site probably null
Posted On2016-08-02