Incidental Mutation 'R9470:Potefam3e'
ID 715425
Institutional Source Beutler Lab
Gene Symbol Potefam3e
Ensembl Gene ENSMUSG00000096265
Gene Name POTE ankyrin domain family member 3E
Synonyms 4930467E23Rik, Pote3e, OTTMUSG00000018948, ENSMUSG00000074453, TSAP
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9470 (G1)
Quality Score 133.008
Status Not validated
Chromosome 8
Chromosomal Location 19779592-19803543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19797809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 292 (S292T)
Ref Sequence ENSEMBL: ENSMUSP00000096508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098909]
AlphaFold D3Z1P8
Predicted Effect probably benign
Transcript: ENSMUST00000098909
AA Change: S292T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096508
Gene: ENSMUSG00000096265
AA Change: S292T

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T A 4: 129,903,074 (GRCm39) L558Q probably damaging Het
Apob A G 12: 8,039,219 (GRCm39) D483G possibly damaging Het
Arid1a T C 4: 133,413,057 (GRCm39) D994G unknown Het
Barx2 A T 9: 31,770,044 (GRCm39) Y161* probably null Het
Bmp7 G T 2: 172,711,960 (GRCm39) N421K probably damaging Het
Bod1l A T 5: 41,974,439 (GRCm39) C2292S probably damaging Het
Ces1c C T 8: 93,830,746 (GRCm39) probably null Het
Clca3b T C 3: 144,543,456 (GRCm39) T458A probably damaging Het
Cntnap5a T G 1: 116,374,344 (GRCm39) V952G probably damaging Het
Cyp2c54 T C 19: 40,060,888 (GRCm39) E85G probably damaging Het
Dmxl1 A G 18: 50,026,777 (GRCm39) K1962E possibly damaging Het
Dnajc13 A G 9: 104,107,919 (GRCm39) V254A probably benign Het
Dysf A T 6: 84,090,352 (GRCm39) I955F possibly damaging Het
Fam184b A G 5: 45,741,854 (GRCm39) S126P probably damaging Het
Gapvd1 A T 2: 34,602,280 (GRCm39) D622E possibly damaging Het
Ggta1 T C 2: 35,292,767 (GRCm39) Y180C probably damaging Het
Gpr31b A G 17: 13,270,845 (GRCm39) V108A probably damaging Het
Kcnu1 A G 8: 26,409,660 (GRCm39) Y861C probably benign Het
Mov10l1 T C 15: 88,904,518 (GRCm39) L799P probably damaging Het
Nkx1-1 G A 5: 33,591,275 (GRCm39) P16S unknown Het
Nos1 T C 5: 118,064,560 (GRCm39) L997P probably damaging Het
Noxred1 A G 12: 87,269,829 (GRCm39) Y301H possibly damaging Het
Nup50l T C 6: 96,142,474 (GRCm39) H190R possibly damaging Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or52j3 G A 7: 102,836,270 (GRCm39) R154H probably benign Het
Or5ak4 A T 2: 85,161,673 (GRCm39) S190T probably damaging Het
Or5b113 A G 19: 13,342,115 (GRCm39) N41S probably damaging Het
Or6b6 A T 7: 106,571,461 (GRCm39) I30N probably benign Het
Paqr7 T C 4: 134,234,914 (GRCm39) V257A probably benign Het
Parp8 A T 13: 117,031,292 (GRCm39) S473R probably benign Het
Pcdhb14 A T 18: 37,581,076 (GRCm39) T61S probably benign Het
Pde11a G A 2: 75,821,612 (GRCm39) A889V probably benign Het
Scart2 A G 7: 139,827,345 (GRCm39) T18A probably benign Het
Sertad1 T C 7: 27,188,871 (GRCm39) L64P probably damaging Het
Tmem156 C T 5: 65,237,531 (GRCm39) R43K probably damaging Het
Tmem82 T A 4: 141,342,341 (GRCm39) D287V probably damaging Het
Traf1 A G 2: 34,833,974 (GRCm39) F381L probably benign Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubap2 G A 4: 41,195,434 (GRCm39) A1068V possibly damaging Het
Vmn1r47 T G 6: 89,999,777 (GRCm39) M303R probably null Het
Zc3h12d T C 10: 7,743,321 (GRCm39) S364P possibly damaging Het
Zdbf2 T A 1: 63,344,784 (GRCm39) N1054K possibly damaging Het
Zpbp A T 11: 11,358,541 (GRCm39) I242N probably damaging Het
Other mutations in Potefam3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Potefam3e APN 8 19,799,499 (GRCm39) splice site probably benign
IGL02318:Potefam3e APN 8 19,797,815 (GRCm39) critical splice donor site probably null
IGL03356:Potefam3e APN 8 19,799,463 (GRCm39) missense probably benign 0.03
R5538:Potefam3e UTSW 8 19,799,430 (GRCm39) critical splice acceptor site probably null
R6790:Potefam3e UTSW 8 19,779,801 (GRCm39) missense probably benign
R8235:Potefam3e UTSW 8 19,799,476 (GRCm39) missense probably benign 0.01
R8671:Potefam3e UTSW 8 19,784,775 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCTCGCTATCAGACTGTGAG -3'
(R):5'- ATAGCTAATCCCAGCAGGCTC -3'

Sequencing Primer
(F):5'- CTCGCTATCAGACTGTGAGAGTTC -3'
(R):5'- CCAAACTTCAGAGTTGGTTCTTG -3'
Posted On 2022-06-15