Incidental Mutation 'R5989:Gm10271'
Institutional Source Beutler Lab
Gene Symbol Gm10271
Ensembl Gene ENSMUSG00000069518
Gene Namepredicted gene 10271
MMRRC Submission 044169-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R5989 (G1)
Quality Score119.008
Status Not validated
Chromosomal Location116956824-116972609 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116972592 bp
Amino Acid Change Phenylalanine to Leucine at position 6 (F6L)
Ref Sequence ENSEMBL: ENSMUSP00000089803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092165]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000033651
Predicted Effect probably damaging
Transcript: ENSMUST00000092165
AA Change: F6L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089803
Gene: ENSMUSG00000069518
AA Change: F6L

transmembrane domain 4 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219792
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cartpt T A 13: 99,898,984 I109F probably damaging Het
Csmd3 G A 15: 47,590,764 P3562L possibly damaging Het
Cyp2c40 T C 19: 39,807,580 D118G probably benign Het
Dmrt1 T A 19: 25,545,881 S199T possibly damaging Het
Ebf1 G T 11: 44,996,171 C565F probably damaging Het
Ggnbp1 A G 17: 27,029,747 R97G probably benign Het
Gm10767 G A 13: 66,907,986 M14I probably damaging Het
Gm42417 A G 1: 36,532,192 F183L probably damaging Het
Ipcef1 A T 10: 6,979,532 Y69* probably null Het
Lcp1 A T 14: 75,199,387 M58L probably benign Het
Mtif2 A G 11: 29,530,098 T55A probably damaging Het
Nefm A G 14: 68,124,329 V162A probably benign Het
Nmral1 G A 16: 4,719,038 probably benign Het
Olfr191 A T 16: 59,086,334 W50R probably benign Het
Panx2 T C 15: 89,060,252 L60P probably damaging Het
Prkag3 T C 1: 74,741,274 N411D probably benign Het
Prrxl1 A G 14: 32,608,188 N116S probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rttn G A 18: 88,973,626 D110N probably damaging Het
Sfta2 G T 17: 35,649,780 probably benign Het
Slc17a3 A G 13: 23,842,428 probably benign Het
Spem1 G A 11: 69,821,125 P238S possibly damaging Het
Tmem200c G T 17: 68,837,436 probably benign Het
Trpm2 A G 10: 77,959,900 F131S probably damaging Het
Vps51 A G 19: 6,076,372 S117P probably damaging Het
Zbtb21 G A 16: 97,951,499 P556L probably damaging Het
Other mutations in Gm10271
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1778:Gm10271 UTSW 10 116961939 splice site probably benign
R1795:Gm10271 UTSW 10 116956841 missense unknown
R2897:Gm10271 UTSW 10 116972590 missense probably damaging 0.99
R3852:Gm10271 UTSW 10 116956874 nonsense probably null
R4112:Gm10271 UTSW 10 116968038 intron probably benign
R5726:Gm10271 UTSW 10 116956887 critical splice acceptor site probably null
R5987:Gm10271 UTSW 10 116972592 missense probably damaging 0.99
R5988:Gm10271 UTSW 10 116972592 missense probably damaging 0.99
R5990:Gm10271 UTSW 10 116972592 missense probably damaging 0.99
R5992:Gm10271 UTSW 10 116972592 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-06-26