Incidental Mutation 'R8793:Potefam3b'
ID 671054
Institutional Source Beutler Lab
Gene Symbol Potefam3b
Ensembl Gene ENSMUSG00000095294
Gene Name POTE ankyrin domain family member 3B
Synonyms Gm21119, Pote3b
MMRRC Submission 068610-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8793 (G1)
Quality Score 88.0076
Status Not validated
Chromosome 8
Chromosomal Location 21154935-21180719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21159053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 136 (V136I)
Ref Sequence ENSEMBL: ENSMUSP00000137434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178438]
AlphaFold Q8C646
Predicted Effect probably benign
Transcript: ENSMUST00000178438
AA Change: V136I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137434
Gene: ENSMUSG00000095294
AA Change: V136I

ANK 84 113 9.41e-6 SMART
ANK 117 146 1.48e-3 SMART
ANK 150 179 6.76e-7 SMART
ANK 183 212 1.4e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A C 3: 59,945,804 (GRCm39) D158A probably damaging Het
Acot7 G A 4: 152,284,380 (GRCm39) V17I probably benign Het
Akap13 A G 7: 75,375,076 (GRCm39) T184A probably benign Het
Ankrd31 T A 13: 96,968,221 (GRCm39) D619E probably damaging Het
Arap3 A G 18: 38,107,492 (GRCm39) F1342L probably benign Het
Arfgef1 G C 1: 10,212,832 (GRCm39) N1696K possibly damaging Het
Asap2 A G 12: 21,218,212 (GRCm39) D45G probably damaging Het
Atp8b4 T A 2: 126,231,254 (GRCm39) M456L probably benign Het
Bag5 A T 12: 111,677,355 (GRCm39) I156N possibly damaging Het
Banp T A 8: 122,750,743 (GRCm39) V478E probably benign Het
BC024063 A T 10: 81,945,352 (GRCm39) H324L probably benign Het
Bms1 T A 6: 118,360,784 (GRCm39) K1228M probably damaging Het
Btaf1 A G 19: 36,958,429 (GRCm39) K649E probably benign Het
Cpox C A 16: 58,493,708 (GRCm39) P226Q probably damaging Het
Cux1 A G 5: 136,594,539 (GRCm39) S5P unknown Het
Dock2 G T 11: 34,451,215 (GRCm39) Q837K probably benign Het
Fam171a1 T C 2: 3,187,535 (GRCm39) I134T probably damaging Het
Gm2832 A G 14: 41,003,726 (GRCm39) T186A Het
Gm8246 T C 14: 16,984,554 (GRCm39) E93G probably damaging Het
Grid2ip C T 5: 143,363,396 (GRCm39) T463M probably damaging Het
Mael G A 1: 166,029,257 (GRCm39) R389C probably benign Het
Myo9a C A 9: 59,791,850 (GRCm39) Q1818K probably benign Het
Nwd1 A G 8: 73,419,704 (GRCm39) D963G probably benign Het
Or13c3 A G 4: 52,856,490 (GRCm39) F8L probably benign Het
Or2g1 T C 17: 38,107,255 (GRCm39) S307P probably benign Het
Pappa2 A T 1: 158,678,731 (GRCm39) V895E probably damaging Het
Pcna T C 2: 132,093,193 (GRCm39) T185A probably benign Het
Pip4k2c A G 10: 127,042,530 (GRCm39) F108L probably damaging Het
Pole T A 5: 110,445,614 (GRCm39) S497T probably damaging Het
Ppp1r12c A G 7: 4,485,887 (GRCm39) V653A probably benign Het
Pramel27 A G 4: 143,577,627 (GRCm39) probably benign Het
Ryr1 A T 7: 28,764,284 (GRCm39) V3072E probably damaging Het
Sh3bgr G A 16: 96,025,792 (GRCm39) probably null Het
Slc27a5 A C 7: 12,723,296 (GRCm39) L550R probably benign Het
Strip2 C T 6: 29,956,815 (GRCm39) P815S probably benign Het
Tars3 G T 7: 65,294,673 (GRCm39) probably benign Het
Tle5 T C 10: 81,397,152 (GRCm39) probably null Het
Tmem237 G T 1: 59,146,613 (GRCm39) L337M probably damaging Het
Ttn T C 2: 76,555,506 (GRCm39) M30500V probably benign Het
Ube2u T C 4: 100,336,416 (GRCm39) F13S probably damaging Het
Ugcg A C 4: 59,207,794 (GRCm39) K44N probably benign Het
Vmn2r39 A T 7: 9,028,149 (GRCm39) H407Q probably damaging Het
Other mutations in Potefam3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6667:Potefam3b UTSW 8 21,161,955 (GRCm39) missense probably benign
R8529:Potefam3b UTSW 8 21,159,174 (GRCm39) missense possibly damaging 0.92
R9575:Potefam3b UTSW 8 21,159,090 (GRCm39) missense probably damaging 0.99
R9583:Potefam3b UTSW 8 21,174,962 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-04-30