Incidental Mutation 'IGL01431:Potefam1'
ID 84134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Potefam1
Ensembl Gene ENSMUSG00000027157
Gene Name POTE ankyrin domain family member 1
Synonyms Potea, Pote1, 4930430A15Rik, A26c3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01431
Quality Score
Status
Chromosome 2
Chromosomal Location 110880755-111059948 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 111055740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000216421] [ENSMUST00000217539]
AlphaFold Q05AC5
Predicted Effect probably benign
Transcript: ENSMUST00000028577
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

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 probably benign
Transcript: ENSMUST00000216421
Predicted Effect probably benign
Transcript: ENSMUST00000217539
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,089,838 (GRCm39) I897T possibly damaging Het
Aqp2 G A 15: 99,477,301 (GRCm39) V90M possibly damaging Het
Atf6 T C 1: 170,680,571 (GRCm39) probably benign Het
Cdh3 T C 8: 107,274,301 (GRCm39) Y607H probably damaging Het
Cer1 T A 4: 82,801,068 (GRCm39) E198D probably benign Het
Dscam A G 16: 96,453,278 (GRCm39) probably null Het
Ecel1 C T 1: 87,079,226 (GRCm39) R484H probably damaging Het
Entpd7 C A 19: 43,718,278 (GRCm39) H575Q probably benign Het
F11r T C 1: 171,290,477 (GRCm39) V279A probably damaging Het
Gm17093 T A 14: 44,759,122 (GRCm39) probably benign Het
Got1 T A 19: 43,491,488 (GRCm39) K321* probably null Het
Gpn1 T C 5: 31,664,882 (GRCm39) V302A probably benign Het
Hivep1 G T 13: 42,311,493 (GRCm39) K1244N probably damaging Het
Idh3b T C 2: 130,123,817 (GRCm39) T116A possibly damaging Het
Itgb4 C A 11: 115,897,283 (GRCm39) probably benign Het
Mybl1 G T 1: 9,742,872 (GRCm39) L579I probably damaging Het
Myh14 T A 7: 44,263,782 (GRCm39) T1694S probably null Het
Mylk3 T C 8: 86,063,030 (GRCm39) D537G probably damaging Het
Myo1d A C 11: 80,565,665 (GRCm39) F387V probably damaging Het
Nek9 T C 12: 85,361,361 (GRCm39) Y448C probably benign Het
Or8k40 A T 2: 86,584,508 (GRCm39) H191Q probably benign Het
Paxbp1 T C 16: 90,832,804 (GRCm39) probably benign Het
Retreg2 T A 1: 75,121,749 (GRCm39) probably null Het
Ripply3 G A 16: 94,129,402 (GRCm39) C16Y possibly damaging Het
Robo3 G A 9: 37,330,407 (GRCm39) probably benign Het
Rrm1 C A 7: 102,106,759 (GRCm39) probably benign Het
Rsad2 T A 12: 26,498,666 (GRCm39) R269S probably benign Het
Sbp A T 17: 24,164,322 (GRCm39) probably benign Het
Schip1 A T 3: 68,525,110 (GRCm39) Q162L probably damaging Het
Senp1 T C 15: 97,980,144 (GRCm39) Y67C probably damaging Het
Slc25a25 C T 2: 32,309,103 (GRCm39) R233K probably damaging Het
Smoc1 C A 12: 81,199,525 (GRCm39) S220* probably null Het
Stab1 C A 14: 30,870,952 (GRCm39) R1299I probably benign Het
Stk17b A G 1: 53,805,074 (GRCm39) probably benign Het
Tmc7 T G 7: 118,151,985 (GRCm39) D312A probably damaging Het
Vmn1r79 T C 7: 11,910,327 (GRCm39) S70P possibly damaging Het
Zfc3h1 C A 10: 115,259,128 (GRCm39) T1591K possibly 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
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
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
Posted On 2013-11-11