Incidental Mutation 'IGL02988:3110079O15Rik'
ID453460
Institutional Source Beutler Lab
Gene Symbol 3110079O15Rik
Ensembl Gene ENSMUSG00000026258
Gene NameRIKEN cDNA 3110079O15 gene
SynonymsSnorc
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #IGL02988 (G1)
Quality Score197
Status Validated
Chromosome1
Chromosomal Location87470271-87475482 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 87475204 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027476] [ENSMUST00000027476] [ENSMUST00000027477] [ENSMUST00000068681]
Predicted Effect probably null
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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 53,690,895 noncoding transcript Het
Adgrd1 G A 5: 129,144,010 A488T probably benign Het
AF529169 A G 9: 89,602,739 S202P probably benign Het
Ano3 T C 2: 110,775,010 S284G probably damaging Het
Aox2 G T 1: 58,337,350 V897L probably benign Het
Arl6 T A 16: 59,613,846 probably null Het
Blnk G A 19: 40,929,216 T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 T1221I probably benign Het
Cbll1 A T 12: 31,492,172 F63L possibly damaging Het
Cdk14 A G 5: 5,036,484 Y279H probably damaging Het
Cflar A T 1: 58,741,031 I265F possibly damaging Het
Cilp TGGG TGG 9: 65,280,130 probably null Het
Crb1 CG C 1: 139,237,086 probably null Het
Cyp3a13 A T 5: 137,899,010 Y347* probably null Het
Defa27 T C 8: 21,315,567 S8P probably damaging Het
Depdc5 A C 5: 32,956,167 probably null Het
Dlg5 A G 14: 24,166,255 F573S probably damaging Het
Fam20c A T 5: 138,755,994 E120V probably benign Het
Fam53a T C 5: 33,607,475 K296E probably damaging Het
Fcna G C 2: 25,630,681 probably benign Het
Fndc1 T C 17: 7,753,523 T1526A possibly damaging Het
Gm14325 A C 2: 177,834,249 probably null Het
Gm438 T A 4: 144,786,530 probably benign Het
Gm7582 G A 1: 85,041,867 noncoding transcript Het
Golga7b A C 19: 42,266,800 Y63S probably damaging Het
Hexb A G 13: 97,198,221 L14P unknown Het
Hsd17b3 A C 13: 64,089,100 L10R probably damaging Het
Il6st T C 13: 112,498,886 F611L probably damaging Het
Ints13 T A 6: 146,556,148 T411S possibly damaging Het
Kif18b C A 11: 102,908,320 C685F probably damaging Het
Kif5c A G 2: 49,619,717 N19S probably damaging Het
Lmbr1 G T 5: 29,292,223 probably null Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mrc2 G A 11: 105,325,571 R62Q probably benign Het
Myo1g T C 11: 6,508,183 probably benign Het
Myo5a A T 9: 75,130,141 probably benign Het
Nobox G A 6: 43,305,161 S326L possibly damaging Het
Nsl1 C A 1: 191,063,103 S22* probably null Het
Olfr1052 T C 2: 86,298,479 I221T probably damaging Het
Olfr1469 A C 19: 13,411,462 K298Q possibly damaging Het
Pdia3 T A 2: 121,429,556 L192Q probably damaging Het
Pkd2 A T 5: 104,503,605 R940* probably null Het
Plcd3 T A 11: 103,076,742 Q458L probably benign Het
Polm T A 11: 5,836,343 T75S probably benign Het
Pon3 T A 6: 5,232,330 D230V possibly damaging Het
Pxdn A T 12: 30,003,114 K917* probably null Het
Rad54l2 A G 9: 106,700,585 S1046P probably benign Het
Rb1cc1 T C 1: 6,247,811 probably null Het
Rnf215 A G 11: 4,136,785 E194G probably damaging Het
Rorb A T 19: 18,937,972 F441I probably damaging Het
Sel1l2 C A 2: 140,248,588 G378V probably damaging Het
Sema6a G T 18: 47,298,214 A139D probably damaging Het
Serpinb3d A T 1: 107,078,536 M274K probably benign Het
Siglec15 A C 18: 78,049,247 L32R probably damaging Het
Siglecg A T 7: 43,418,052 D681V probably damaging Het
Slc6a13 G T 6: 121,326,107 probably benign Het
Slc9b2 G T 3: 135,318,418 A77S probably benign Het
Slit3 T A 11: 35,708,063 V1498D probably damaging Het
Speer4c A C 5: 15,714,216 probably benign Het
Stxbp2 T C 8: 3,633,267 probably benign Het
Tbc1d9b T C 11: 50,151,946 S482P possibly damaging Het
Tec A G 5: 72,768,747 S321P possibly damaging Het
Tenm3 A G 8: 48,235,346 M2402T probably damaging Het
Thrap3 G A 4: 126,165,542 probably null Het
Tm4sf1 A T 3: 57,293,116 probably null Het
Tmcc1 T C 6: 116,042,928 E306G probably damaging Het
Traf3ip3 A T 1: 193,194,874 probably null Het
Utf1 C T 7: 139,943,962 P30L possibly damaging Het
Wdfy3 A T 5: 101,929,981 C880S probably damaging Het
Other mutations in 3110079O15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03166:3110079O15Rik APN 1 87475211 unclassified probably benign
R7258:3110079O15Rik UTSW 1 87475067 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGACTTTGCAGCAGAGGGTC -3'
(R):5'- AACTTCCTTAGCGCGACGAC -3'

Sequencing Primer
(F):5'- AGCAGAGGGTCCCCAGGAG -3'
(R):5'- TTAGCGCGACGACCACGAG -3'
Posted On2017-02-08