Incidental Mutation 'R2894:Gm16494'
ID 260723
Institutional Source Beutler Lab
Gene Symbol Gm16494
Ensembl Gene ENSMUSG00000091775
Gene Name predicted gene 16494
Synonyms
MMRRC Submission 040482-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R2894 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 47327623-47327881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47327632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 84 (E84G)
Ref Sequence ENSEMBL: ENSMUSP00000132093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165525]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000165525
AA Change: E84G
SMART Domains Protein: ENSMUSP00000132093
Gene: ENSMUSG00000091775
AA Change: E84G

DomainStartEndE-ValueType
HMG17 2 83 2.01e-32 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Acox3 A G 5: 35,757,192 (GRCm39) I344V probably benign Het
Ank2 T C 3: 127,041,892 (GRCm39) probably null Het
Ccl4 C A 11: 83,554,329 (GRCm39) probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cdk5rap2 T C 4: 70,208,110 (GRCm39) K779E probably benign Het
Cenpu C A 8: 47,029,384 (GRCm39) N212K probably damaging Het
Dcun1d2 A T 8: 13,328,649 (GRCm39) I86N probably damaging Het
Dnah1 T A 14: 31,020,718 (GRCm39) E1217V possibly damaging Het
Dusp15 T C 2: 152,791,005 (GRCm39) I31V probably benign Het
Ern2 A C 7: 121,780,810 (GRCm39) S114A possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fmo6 C T 1: 162,750,293 (GRCm39) W254* probably null Het
Kdr A G 5: 76,107,496 (GRCm39) F1016L probably damaging Het
Lrrc37a G A 11: 103,388,690 (GRCm39) T2245I unknown Het
Mdga1 T C 17: 30,071,478 (GRCm39) Y381C probably damaging Het
Msh3 G T 13: 92,478,868 (GRCm39) A367D probably benign Het
Nadk A G 4: 155,671,817 (GRCm39) N232S possibly damaging Het
Or51e1 A G 7: 102,358,882 (GRCm39) T139A probably damaging Het
Or7g29 A T 9: 19,286,588 (GRCm39) Y196* probably null Het
Per2 C A 1: 91,373,325 (GRCm39) Q154H probably damaging Het
Pik3ap1 G A 19: 41,364,500 (GRCm39) A73V probably benign Het
Pramel16 A T 4: 143,675,692 (GRCm39) M378K probably damaging Het
Rad18 G A 6: 112,652,734 (GRCm39) Q288* probably null Het
Rarb T C 14: 16,435,146 (GRCm38) D300G probably damaging Het
Ruvbl1 C T 6: 88,456,114 (GRCm39) R63W possibly damaging Het
Setdb2 T C 14: 59,663,916 (GRCm39) N77S probably benign Het
Slc22a19 C A 19: 7,670,169 (GRCm39) K228N probably benign Het
Thoc6 A G 17: 23,888,009 (GRCm39) S292P probably damaging Het
Tmem126b A T 7: 90,120,121 (GRCm39) S83R probably damaging Het
Tmem232 C T 17: 65,757,408 (GRCm39) E262K probably damaging Het
Vmn2r60 T C 7: 41,785,220 (GRCm39) V144A probably benign Het
Vpreb3 C T 10: 75,779,056 (GRCm39) probably benign Het
Vwa8 A G 14: 79,275,578 (GRCm39) N787S probably damaging Het
Other mutations in Gm16494
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1469:Gm16494 UTSW 17 47,327,770 (GRCm39) missense probably damaging 1.00
R1469:Gm16494 UTSW 17 47,327,770 (GRCm39) missense probably damaging 1.00
R4600:Gm16494 UTSW 17 47,327,723 (GRCm39) nonsense probably null
R6699:Gm16494 UTSW 17 47,327,834 (GRCm39) missense probably damaging 0.98
R7751:Gm16494 UTSW 17 47,327,800 (GRCm39) nonsense probably null
R8296:Gm16494 UTSW 17 47,327,750 (GRCm39) missense probably damaging 0.99
RF056:Gm16494 UTSW 17 47,327,841 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGTCCTCAATCCAGCTTGGG -3'
(R):5'- AAAAGATCTGCAAGGTTGTCTGC -3'

Sequencing Primer
(F):5'- CTCAATCCAGCTTGGGAGAGATTTTG -3'
(R):5'- GCAAGGTTGTCTGCTAAACC -3'
Posted On 2015-01-23