Incidental Mutation 'R1486:Potefam1'
ID 163446
Institutional Source Beutler Lab
Gene Symbol Potefam1
Ensembl Gene ENSMUSG00000027157
Gene Name POTE ankyrin domain family member 1
Synonyms Potea, Pote1, 4930430A15Rik, A26c3
MMRRC Submission 039539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1486 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 110880755-111059948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 111030703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 402 (Q402P)
Ref Sequence ENSEMBL: ENSMUSP00000028577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000142636]
AlphaFold Q05AC5
Predicted Effect possibly damaging
Transcript: ENSMUST00000028577
AA Change: Q402P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Q402P

DomainStartEndE-ValueType
ANK 78 107 1.61e-4 SMART
ANK 111 140 3.6e-2 SMART
ANK 144 173 4.89e-4 SMART
ANK 177 206 4.03e-5 SMART
ANK 210 239 8.72e-1 SMART
Blast:ANK 243 272 4e-12 BLAST
low complexity region 460 472 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000142636
AA Change: Q30P

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: Q30P

DomainStartEndE-ValueType
internal_repeat_1 1 69 7.48e-6 PROSPERO
internal_repeat_1 81 153 7.48e-6 PROSPERO
low complexity region 168 183 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik A G 4: 108,705,143 (GRCm39) E19G probably benign Het
A730018C14Rik T C 12: 112,382,129 (GRCm39) noncoding transcript Het
Acrbp T A 6: 125,027,585 (GRCm39) Y78N probably damaging Het
Adamtsl4 T C 3: 95,589,166 (GRCm39) S422G probably benign Het
Apba2 T C 7: 64,386,696 (GRCm39) V429A probably damaging Het
Atf6 A G 1: 170,622,260 (GRCm39) C454R probably damaging Het
Bhlhe40 T C 6: 108,641,890 (GRCm39) I278T probably damaging Het
Birc6 G T 17: 74,946,815 (GRCm39) V2845L probably damaging Het
Card11 T C 5: 140,862,274 (GRCm39) I1008V probably benign Het
Catsperg1 C A 7: 28,884,920 (GRCm39) K900N probably damaging Het
Cep20 A G 16: 14,118,004 (GRCm39) V172A probably benign Het
Chek2 T G 5: 110,989,093 (GRCm39) probably benign Het
Dnaaf9 A G 2: 130,579,338 (GRCm39) L633P probably damaging Het
Dnah9 A T 11: 65,725,098 (GRCm39) S4352T probably damaging Het
Eif3c C T 7: 126,163,893 (GRCm39) R50Q probably damaging Het
Eml6 A C 11: 29,755,114 (GRCm39) I887S possibly damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Grm4 A G 17: 27,653,691 (GRCm39) L706P probably damaging Het
Irak3 T C 10: 119,978,966 (GRCm39) D495G probably damaging Het
Itga9 T G 9: 118,455,518 (GRCm39) V64G probably damaging Het
Iws1 T C 18: 32,230,309 (GRCm39) I759T probably damaging Het
Kdm3b T A 18: 34,967,357 (GRCm39) F1721I probably damaging Het
Lrrc8c T A 5: 105,755,395 (GRCm39) V390E probably damaging Het
Mki67 G A 7: 135,301,449 (GRCm39) T1195I probably benign Het
Mphosph8 C T 14: 56,926,496 (GRCm39) T646I probably damaging Het
Ncdn A T 4: 126,642,391 (GRCm39) V422D probably damaging Het
Nrg1 T C 8: 32,308,372 (GRCm39) E548G probably damaging Het
Nt5el T C 13: 105,246,291 (GRCm39) V284A probably benign Het
Nup37 T C 10: 87,984,116 (GRCm39) Y11H probably damaging Het
Or1ad1 G A 11: 50,875,608 (GRCm39) V27I probably benign Het
Or51f1e A T 7: 102,747,637 (GRCm39) I230F probably damaging Het
Or52s19 T A 7: 103,008,201 (GRCm39) M67L possibly damaging Het
Or8j3c T A 2: 86,253,825 (GRCm39) H65L probably damaging Het
Pcgf1 T G 6: 83,056,107 (GRCm39) S70R probably damaging Het
Prps1l3 C T 12: 57,285,573 (GRCm39) A121V probably benign Het
Rasal1 T C 5: 120,792,917 (GRCm39) Y57H probably damaging Het
Rbm12b2 A G 4: 12,094,841 (GRCm39) R567G probably benign Het
Rep15 T A 6: 146,934,577 (GRCm39) F139I probably damaging Het
Ros1 T C 10: 52,048,954 (GRCm39) Y92C probably damaging Het
Sin3b A G 8: 73,477,141 (GRCm39) T803A probably benign Het
Skint11 G A 4: 114,052,015 (GRCm39) probably null Het
Sobp T G 10: 42,898,518 (GRCm39) S356R probably benign Het
Spats2l T C 1: 57,939,970 (GRCm39) I228T probably damaging Het
Sqor G A 2: 122,649,565 (GRCm39) probably null Het
Stox1 T C 10: 62,500,415 (GRCm39) D715G probably benign Het
Tln2 C A 9: 67,219,121 (GRCm39) G275W probably damaging Het
Tmc5 C T 7: 118,272,655 (GRCm39) P942S probably benign Het
Tor4a A T 2: 25,084,691 (GRCm39) I404N possibly damaging Het
Ttc3 G A 16: 94,248,988 (GRCm39) R1162Q probably damaging Het
Zfp451 T C 1: 33,816,808 (GRCm39) K164E probably damaging Het
Other mutations in Potefam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Potefam1 APN 2 111,051,107 (GRCm39) missense probably damaging 0.98
IGL01403:Potefam1 APN 2 111,059,515 (GRCm39) unclassified probably benign
IGL01431:Potefam1 APN 2 111,055,740 (GRCm39) unclassified probably benign
IGL01601:Potefam1 APN 2 111,023,823 (GRCm39) missense unknown
IGL01649:Potefam1 APN 2 111,044,921 (GRCm39) splice site probably benign
IGL02355:Potefam1 APN 2 111,041,996 (GRCm39) splice site probably benign
IGL02362:Potefam1 APN 2 111,041,996 (GRCm39) splice site probably benign
IGL02485:Potefam1 APN 2 111,058,670 (GRCm39) missense probably damaging 0.97
IGL02620:Potefam1 APN 2 111,041,970 (GRCm39) missense probably benign 0.00
IGL03156:Potefam1 APN 2 111,030,757 (GRCm39) missense possibly damaging 0.90
IGL02980:Potefam1 UTSW 2 110,994,818 (GRCm39) missense unknown
R0577:Potefam1 UTSW 2 111,024,694 (GRCm39) missense probably benign 0.27
R0638:Potefam1 UTSW 2 111,030,763 (GRCm39) missense probably damaging 0.96
R0645:Potefam1 UTSW 2 111,044,928 (GRCm39) critical splice donor site probably null
R0671:Potefam1 UTSW 2 111,034,482 (GRCm39) missense possibly damaging 0.93
R0829:Potefam1 UTSW 2 111,028,450 (GRCm39) missense possibly damaging 0.92
R1464:Potefam1 UTSW 2 111,055,748 (GRCm39) critical splice donor site probably null
R1464:Potefam1 UTSW 2 111,055,748 (GRCm39) critical splice donor site probably null
R1509:Potefam1 UTSW 2 111,048,972 (GRCm39) missense probably benign
R1672:Potefam1 UTSW 2 111,051,119 (GRCm39) missense probably benign 0.00
R2073:Potefam1 UTSW 2 111,030,763 (GRCm39) missense probably damaging 0.96
R2074:Potefam1 UTSW 2 111,030,763 (GRCm39) missense probably damaging 0.96
R2075:Potefam1 UTSW 2 111,030,763 (GRCm39) missense probably damaging 0.96
R2899:Potefam1 UTSW 2 111,051,015 (GRCm39) splice site probably benign
R2965:Potefam1 UTSW 2 111,034,364 (GRCm39) missense possibly damaging 0.61
R3110:Potefam1 UTSW 2 111,058,399 (GRCm39) missense probably damaging 1.00
R3112:Potefam1 UTSW 2 111,058,399 (GRCm39) missense probably damaging 1.00
R4489:Potefam1 UTSW 2 111,051,047 (GRCm39) missense probably benign 0.31
R4821:Potefam1 UTSW 2 111,034,490 (GRCm39) critical splice acceptor site probably null
R4925:Potefam1 UTSW 2 111,048,961 (GRCm39) missense probably benign 0.41
R5045:Potefam1 UTSW 2 111,023,804 (GRCm39) missense unknown
R5057:Potefam1 UTSW 2 111,055,766 (GRCm39) missense probably benign 0.12
R5128:Potefam1 UTSW 2 110,994,674 (GRCm39) nonsense probably null
R5250:Potefam1 UTSW 2 111,058,422 (GRCm39) missense possibly damaging 0.87
R5333:Potefam1 UTSW 2 111,024,682 (GRCm39) missense possibly damaging 0.92
R5376:Potefam1 UTSW 2 111,045,944 (GRCm39) missense probably benign 0.44
R5677:Potefam1 UTSW 2 111,041,910 (GRCm39) missense probably benign
R5722:Potefam1 UTSW 2 111,034,468 (GRCm39) missense probably benign
R5735:Potefam1 UTSW 2 111,055,837 (GRCm39) nonsense probably null
R6170:Potefam1 UTSW 2 111,058,293 (GRCm39) missense probably benign 0.03
R6366:Potefam1 UTSW 2 110,999,937 (GRCm39) critical splice donor site probably null
R6496:Potefam1 UTSW 2 110,994,817 (GRCm39) missense unknown
R6654:Potefam1 UTSW 2 111,002,229 (GRCm39) missense unknown
R6983:Potefam1 UTSW 2 111,058,595 (GRCm39) critical splice donor site probably null
R7371:Potefam1 UTSW 2 111,023,826 (GRCm39) missense unknown
R7958:Potefam1 UTSW 2 111,000,670 (GRCm39) missense unknown
R8421:Potefam1 UTSW 2 111,048,955 (GRCm39) nonsense probably null
R8495:Potefam1 UTSW 2 111,059,755 (GRCm39) start codon destroyed probably null 0.33
R8534:Potefam1 UTSW 2 111,058,380 (GRCm39) missense possibly damaging 0.92
R8671:Potefam1 UTSW 2 111,059,877 (GRCm39) unclassified probably benign
R8679:Potefam1 UTSW 2 111,059,567 (GRCm39) missense possibly damaging 0.73
R8743:Potefam1 UTSW 2 111,000,017 (GRCm39) missense unknown
R8983:Potefam1 UTSW 2 111,030,701 (GRCm39) missense probably benign 0.00
R9213:Potefam1 UTSW 2 111,020,699 (GRCm39) missense unknown
R9457:Potefam1 UTSW 2 111,000,631 (GRCm39) missense unknown
R9723:Potefam1 UTSW 2 111,058,700 (GRCm39) missense probably damaging 0.97
R9745:Potefam1 UTSW 2 111,000,008 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGCAGGCATCTAACATGAGCCAAATAAA -3'
(R):5'- GCCGATTACCCCAAAACCGATTAAGT -3'

Sequencing Primer
(F):5'- CATGAGCCAAATAAAGTTCCCTTG -3'
(R):5'- TCAATGCTTGTGTACCTTGAAC -3'
Posted On 2014-03-28