Incidental Mutation 'R2284:Gm5698'
ID 243231
Institutional Source Beutler Lab
Gene Symbol Gm5698
Ensembl Gene ENSMUSG00000086151
Gene Name predicted gene 5698
Synonyms
MMRRC Submission 040283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R2284 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 31016327-31017049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31016964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 29 (R29Q)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000156220
AA Change: R29Q

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116628
Gene: ENSMUSG00000086151
AA Change: R29Q

DomainStartEndE-ValueType
RRM 84 156 1.12e-17 SMART
FoP_duplication 165 241 1.45e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178317
SMART Domains Protein: ENSMUSP00000137086
Gene: ENSMUSG00000086151

DomainStartEndE-ValueType
RRM 84 156 1.12e-17 SMART
FoP_duplication 165 241 1.45e-4 SMART
Meta Mutation Damage Score 0.0979 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipoq C T 16: 22,976,237 (GRCm39) Q213* probably null Het
Adsl C T 15: 80,848,096 (GRCm39) P278L probably damaging Het
Bcas2 T C 3: 103,085,678 (GRCm39) S187P probably damaging Het
Ccdc88a T C 11: 29,444,099 (GRCm39) probably null Het
Cryzl1 C T 16: 91,491,193 (GRCm39) probably benign Het
Csl T A 10: 99,594,321 (GRCm39) D248V possibly damaging Het
Dip2a A C 10: 76,149,027 (GRCm39) V247G probably benign Het
Fat2 T C 11: 55,173,186 (GRCm39) D2509G probably damaging Het
Gldn G A 9: 54,193,849 (GRCm39) W14* probably null Het
Gm5830 A T 1: 78,945,415 (GRCm39) noncoding transcript Het
Gtf2ird2 A G 5: 134,246,025 (GRCm39) D761G probably benign Het
Hdac10 T C 15: 89,011,607 (GRCm39) Q159R probably benign Het
Hhatl T C 9: 121,618,648 (GRCm39) Y118C probably damaging Het
Iho1 C T 9: 108,298,672 (GRCm39) E49K probably damaging Het
Klrd1 A G 6: 129,575,344 (GRCm39) H127R probably benign Het
Krtap31-1 C T 11: 99,799,081 (GRCm39) Q95* probably null Het
Map2 C T 1: 66,453,227 (GRCm39) P548S probably damaging Het
Mki67 A G 7: 135,301,674 (GRCm39) V1120A probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr12 T A 15: 12,245,097 (GRCm39) M204K probably damaging Het
Muc6 T C 7: 141,217,837 (GRCm39) T2279A possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nlrp1b A G 11: 71,047,110 (GRCm39) S1084P probably benign Het
Nr2f1 C A 13: 78,343,581 (GRCm39) V81F probably damaging Het
Nrxn3 T A 12: 89,477,135 (GRCm39) N803K probably damaging Het
Or5l14 A G 2: 87,793,137 (GRCm39) L33P probably damaging Het
Ptpre A G 7: 135,271,510 (GRCm39) H375R probably benign Het
Tsc1 G A 2: 28,555,109 (GRCm39) V200I possibly damaging Het
Vmn1r42 A G 6: 89,821,681 (GRCm39) I296T probably benign Het
Vmn1r67 A T 7: 10,181,600 (GRCm39) H288L probably damaging Het
Vmn2r45 A T 7: 8,488,765 (GRCm39) N88K probably benign Het
Wt1 A G 2: 105,002,666 (GRCm39) T511A probably benign Het
Other mutations in Gm5698
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0066:Gm5698 UTSW 1 31,016,614 (GRCm39) missense probably benign 0.09
R1166:Gm5698 UTSW 1 31,016,366 (GRCm39) missense probably damaging 1.00
R1509:Gm5698 UTSW 1 31,016,728 (GRCm39) missense probably benign 0.01
R1929:Gm5698 UTSW 1 31,017,042 (GRCm39) missense probably damaging 0.97
R3785:Gm5698 UTSW 1 31,016,560 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGCATCTGACACTCCGAAG -3'
(R):5'- CCCTCTTGTCTAATGATGCAATATGC -3'

Sequencing Primer
(F):5'- ACTCCGAAGTGCAGGTTTGAC -3'
(R):5'- TATGCTGAAACCACAGATGCACTTTC -3'
Posted On 2014-10-16