Incidental Mutation 'R5045:Potefam1'
ID 394299
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 042635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5045 (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 A at 111023804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 110 (Q110L)
Ref Sequence ENSEMBL: ENSMUSP00000117759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000142636]
AlphaFold Q05AC5
Predicted Effect unknown
Transcript: ENSMUST00000028577
AA Change: Q482L
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Q482L

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 unknown
Transcript: ENSMUST00000142636
AA Change: Q110L
SMART Domains Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: Q110L

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: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,530,327 (GRCm39) probably benign Het
2210408I21Rik A G 13: 77,415,927 (GRCm39) probably null Het
4930519P11Rik A T 2: 154,454,950 (GRCm39) C136* probably null Het
4930519P11Rik G T 2: 154,454,982 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,860 (GRCm39) H1189L probably damaging Het
Arhgap24 A G 5: 103,039,743 (GRCm39) I227V possibly damaging Het
Arhgap29 C A 3: 121,796,244 (GRCm39) N445K probably benign Het
Atp13a3 T C 16: 30,158,694 (GRCm39) H811R probably benign Het
Cd2ap T C 17: 43,118,851 (GRCm39) N529S probably benign Het
Cdh20 T A 1: 110,026,080 (GRCm39) S439T probably benign Het
Ces3a G T 8: 105,777,248 (GRCm39) probably null Het
Cftr T A 6: 18,230,080 (GRCm39) N408K probably benign Het
Chil5 T C 3: 105,931,456 (GRCm39) N136S possibly damaging Het
Col20a1 A G 2: 180,648,638 (GRCm39) D933G probably damaging Het
Crh A T 3: 19,748,153 (GRCm39) L163* probably null Het
Ctps1 A C 4: 120,410,075 (GRCm39) probably null Het
Cyb5d2 A G 11: 72,686,401 (GRCm39) V63A probably damaging Het
Cyp2d11 T A 15: 82,275,272 (GRCm39) probably null Het
Dclk3 A T 9: 111,296,856 (GRCm39) E133D probably damaging Het
Dhrs9 A G 2: 69,223,339 (GRCm39) D29G probably benign Het
Disp2 G A 2: 118,622,543 (GRCm39) E1092K probably benign Het
Enpp3 A G 10: 24,652,665 (GRCm39) I764T probably damaging Het
Epm2aip1 C A 9: 111,102,427 (GRCm39) R467S possibly damaging Het
Fam20a T C 11: 109,568,711 (GRCm39) I272V probably benign Het
Fgb T C 3: 82,950,680 (GRCm39) Y358C probably damaging Het
Gm11596 A T 11: 99,683,695 (GRCm39) S142T unknown Het
Golga4 A G 9: 118,394,724 (GRCm39) T9A probably benign Het
Hmcn2 C T 2: 31,299,093 (GRCm39) P2813L probably damaging Het
Ighv1-9 C T 12: 114,547,440 (GRCm39) G34R probably damaging Het
Kalrn A C 16: 34,134,722 (GRCm39) Y353* probably null Het
Klrk1 T C 6: 129,594,466 (GRCm39) Y42C probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mbtd1 T C 11: 93,822,641 (GRCm39) Y484H probably benign Het
Mki67 T C 7: 135,309,633 (GRCm39) R273G possibly damaging Het
Myh11 A T 16: 14,057,391 (GRCm39) L308* probably null Het
Nacc2 G A 2: 25,980,150 (GRCm39) probably null Het
Nadsyn1 A G 7: 143,360,706 (GRCm39) L354P probably damaging Het
Ntrk3 T A 7: 78,110,172 (GRCm39) Q354L probably benign Het
Or10ag58 A T 2: 87,265,490 (GRCm39) I220L probably damaging Het
Or52r1c G A 7: 102,735,664 (GRCm39) G308E probably benign Het
Phactr3 T C 2: 177,973,412 (GRCm39) I470T probably damaging Het
Pkd1l3 C T 8: 110,349,787 (GRCm39) P211S unknown Het
Prickle2 T C 6: 92,353,375 (GRCm39) D753G probably damaging Het
Prr12 A G 7: 44,699,318 (GRCm39) probably benign Het
Psd3 T C 8: 68,166,477 (GRCm39) E917G probably damaging Het
Rgsl1 T A 1: 153,697,268 (GRCm39) K551* probably null Het
Stag3 T C 5: 138,302,740 (GRCm39) L1033P probably damaging Het
Tcaf3 T A 6: 42,570,618 (GRCm39) Q378L possibly damaging Het
Tdpoz8 G T 3: 92,981,524 (GRCm39) D181Y probably damaging Het
Tespa1 A T 10: 130,197,904 (GRCm39) K309* probably null Het
Trim69 A G 2: 122,004,727 (GRCm39) T275A probably benign Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Ugt2a2 A T 5: 87,622,751 (GRCm39) F72L probably damaging Het
Vmn2r59 A T 7: 41,695,496 (GRCm39) D305E possibly damaging Het
Vmn2r71 A G 7: 85,273,597 (GRCm39) I804V probably benign Het
Zfy2 T C Y: 2,107,159 (GRCm39) K492E possibly damaging Het
Zkscan1 A G 5: 138,099,182 (GRCm39) H375R 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
R1486:Potefam1 UTSW 2 111,030,703 (GRCm39) missense possibly damaging 0.84
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
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'- GTTGCTCTAGGATGAATTAGAAAAGAA -3'
(R):5'- AGGTGGAGTTTAGATTTTCTCAAGA -3'

Sequencing Primer
(F):5'- AAGTGCTAAATGCTGTGCCC -3'
(R):5'- AAGCAAGATTCTTTCCCTAA -3'
Posted On 2016-06-15