Incidental Mutation 'R3774:Gm5565'
ID473729
Institutional Source Beutler Lab
Gene Symbol Gm5565
Ensembl Gene ENSMUSG00000104752
Gene Namepredicted gene 5565
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #R3774 (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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm A G 3: 153,933,097 V213A probably benign Het
Ccndbp1 A G 2: 121,009,100 K26R possibly damaging Het
Chrna10 T C 7: 102,114,328 T87A probably benign Het
Col27a1 T A 4: 63,314,726 N360K probably benign Het
Crispld2 T C 8: 120,029,266 S325P probably damaging Het
Dgkd T A 1: 87,936,300 I79N probably damaging Het
Dhdh T A 7: 45,481,938 D157V probably benign Het
Dnajc15 A T 14: 77,856,937 probably null Het
Fbxo44 G T 4: 148,156,594 F179L probably damaging Het
Gpat4 G A 8: 23,180,155 P286L probably damaging Het
Itgav A G 2: 83,791,964 E630G probably damaging Het
Iws1 T C 18: 32,079,995 S159P probably damaging Het
Kif23 G A 9: 61,924,992 S623L probably benign Het
Krt32 A G 11: 100,088,121 C36R probably benign Het
Med12l A C 3: 59,247,942 Q1181P probably damaging Het
Megf10 G A 18: 57,277,105 G653S probably damaging Het
Mon1a A G 9: 107,901,303 Y242C probably damaging Het
Msh6 G T 17: 87,986,181 R788L probably damaging Het
Mttp T C 3: 138,114,263 probably null Het
Mxi1 C A 19: 53,371,729 A294E probably benign Het
Olfm5 T A 7: 104,161,849 R27S possibly damaging Het
Olfr667 T A 7: 104,916,906 Y130F probably benign Het
Palmd T C 3: 116,927,663 E81G probably damaging Het
Pecr A G 1: 72,259,371 F297L probably benign Het
Phf11b A G 14: 59,326,057 L137S probably benign Het
Phlpp1 GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGCAGC 1: 106,393,191 probably benign Het
Plcb4 A G 2: 135,958,145 K472E probably benign Het
Pomgnt1 G A 4: 116,154,128 R230H probably damaging Het
Pomt1 A G 2: 32,244,250 H261R possibly damaging Het
Ppm1d T C 11: 85,337,167 I303T probably damaging Het
Ptprc T G 1: 138,064,773 Q1205H probably damaging Het
Rad23b C T 4: 55,382,589 T264I possibly damaging Het
Rfc1 T C 5: 65,264,406 Y1050C probably damaging Het
Sept8 T C 11: 53,537,579 V352A probably damaging Het
Slc25a13 T A 6: 6,109,288 Q358L probably damaging Het
Ssh1 T C 5: 113,966,722 D12G probably damaging Het
Tmem59l A G 8: 70,487,301 L6S unknown Het
Tnik T C 3: 28,638,419 Y820H probably damaging Het
Trpm3 T C 19: 22,978,602 F1143L possibly damaging Het
Trpm3 T A 19: 22,987,975 S1611R probably benign Het
Ttyh3 A G 5: 140,648,734 F32L probably damaging Het
Unkl T A 17: 25,188,407 probably null Het
Vwf T A 6: 125,649,099 probably null Het
Wdr11 T A 7: 129,631,693 probably null Het
Yeats2 A G 16: 20,150,495 D12G probably damaging Het
Other mutations in Gm5565
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4362001:Gm5565 UTSW 5 146158299 missense probably benign 0.05
R3776: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