Incidental Mutation 'R3776:Gm5565'
ID473741
Institutional Source Beutler Lab
Gene Symbol Gm5565
Ensembl Gene ENSMUSG00000104752
Gene Namepredicted gene 5565
Synonyms
MMRRC Submission 040874-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #R3776 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location146157802-146160539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 146158609 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 192 (E192V)
Ref Sequence ENSEMBL: ENSMUSP00000143497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000199463]
Predicted Effect probably benign
Transcript: ENSMUST00000199463
AA Change: E192V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143497
Gene: ENSMUSG00000104752
AA Change: E192V

DomainStartEndE-ValueType
RasGEFN 66 182 2.8e-3 SMART
low complexity region 270 289 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 C T 17: 56,955,111 V264M probably damaging Het
Adgrg1 C T 8: 95,009,655 S479F probably damaging Het
Ank2 T A 3: 126,942,262 probably benign Het
Atp2b1 CTTTTT CTTTTTT 10: 98,979,869 probably null Het
Ccdc88c G A 12: 100,947,179 T529M probably damaging Het
Cdc27 T G 11: 104,515,437 E617D probably damaging Het
Cfap54 A G 10: 93,045,100 V367A probably damaging Het
Col6a4 G A 9: 106,051,701 Q1445* probably null Het
Crispld2 T C 8: 120,029,266 S325P probably damaging Het
Dll1 T C 17: 15,368,524 S630G probably benign Het
Ednra A G 8: 77,675,095 S189P probably damaging Het
Eif6 T A 2: 155,826,376 T20S possibly damaging Het
Fbxl5 A G 5: 43,758,276 V555A possibly damaging Het
Gdpd5 G A 7: 99,454,572 R422Q probably benign Het
Glt1d1 T A 5: 127,694,311 F289I probably damaging Het
Gpc5 T C 14: 115,370,060 M358T probably benign Het
Helz2 G A 2: 181,240,389 R204* probably null Het
Hhex A T 19: 37,437,270 Q149L probably damaging Het
Kat2b A G 17: 53,567,581 probably null Het
Kif23 G A 9: 61,924,992 S623L probably benign Het
Klra2 A T 6: 131,242,963 L85H probably benign Het
Krt32 A G 11: 100,088,121 C36R probably benign Het
Megf10 G A 18: 57,277,105 G653S probably damaging Het
Mpp3 G T 11: 102,023,367 S134* probably null Het
Mttp T C 3: 138,114,263 probably null Het
Mxi1 C A 19: 53,371,729 A294E probably benign Het
Nin G T 12: 70,038,682 Q1592K possibly damaging Het
Nlrc5 A G 8: 94,472,839 E26G possibly damaging Het
Nup160 G T 2: 90,722,076 C1132F probably benign Het
Olfr1234 A T 2: 89,362,764 S222T possibly damaging Het
Pdgfc A G 3: 81,141,551 T89A probably damaging Het
Pdgfrb A G 18: 61,081,920 D1007G probably benign Het
Pgbd1 A G 13: 21,428,373 L98P probably benign Het
Pkhd1l1 G A 15: 44,514,975 probably null Het
Plod1 A G 4: 147,931,277 V105A possibly damaging Het
Polg2 G T 11: 106,779,284 F53L probably benign Het
Ptprc T G 1: 138,064,773 Q1205H probably damaging Het
Rab3gap2 T C 1: 185,277,205 L1086P probably damaging Het
Rnf19a T A 15: 36,265,912 N13I probably benign Het
Slc25a19 A G 11: 115,615,459 Y303H probably damaging Het
Tnrc6c C T 11: 117,723,529 R838W probably damaging Het
Trpm3 T C 19: 22,978,602 F1143L possibly damaging Het
Ubxn11 C T 4: 134,108,294 P4S probably damaging Het
Zg16 T A 7: 127,050,532 I86F probably damaging Het
Other mutations in Gm5565
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4362001:Gm5565 UTSW 5 146158299 missense probably benign 0.05
R3774:Gm5565 UTSW 5 146158609 missense probably benign 0.18
R4872:Gm5565 UTSW 5 146158103 missense probably benign
R5232:Gm5565 UTSW 5 146160137 missense possibly damaging 0.94
R6357:Gm5565 UTSW 5 146160473 missense possibly damaging 0.55
R6562:Gm5565 UTSW 5 146158154 missense probably damaging 1.00
R7094:Gm5565 UTSW 5 146158274 missense probably benign 0.00
R7182:Gm5565 UTSW 5 146158055 missense probably benign
R7325:Gm5565 UTSW 5 146158361 splice site probably null
Z1088:Gm5565 UTSW 5 146158669 missense probably benign 0.02
Predicted Primers
Posted On2017-04-14