Incidental Mutation 'IGL03156:Potefam1'
ID 411275
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 # IGL03156
Quality Score
Status
Chromosome 2
Chromosomal Location 110880755-111059948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111030757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000117759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000142636]
AlphaFold Q05AC5
Predicted Effect possibly damaging
Transcript: ENSMUST00000028577
AA Change: D384G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: D384G

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: D12G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: D12G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,023,074 (GRCm39) I70T possibly damaging Het
Acot11 A G 4: 106,611,333 (GRCm39) Y365H probably damaging Het
Bdp1 A G 13: 100,197,544 (GRCm39) V947A probably benign Het
Ccdc159 G T 9: 21,840,771 (GRCm39) V113L probably benign Het
Cep350 T C 1: 155,733,788 (GRCm39) D3035G probably damaging Het
Clca3a1 T A 3: 144,719,672 (GRCm39) I433F probably damaging Het
Cntn5 T C 9: 9,673,882 (GRCm39) Y740C probably damaging Het
Dennd5a C A 7: 109,518,462 (GRCm39) probably benign Het
Des G A 1: 75,339,640 (GRCm39) E333K probably damaging Het
Dnah7a T C 1: 53,644,983 (GRCm39) R1018G probably damaging Het
Eif2b2 G T 12: 85,266,495 (GRCm39) A54S probably damaging Het
Gm7276 C T 18: 77,273,299 (GRCm39) probably benign Het
Hsbp1l1 A G 18: 80,278,734 (GRCm39) probably benign Het
Iars1 G A 13: 49,856,655 (GRCm39) G303S possibly damaging Het
Il18r1 A G 1: 40,537,528 (GRCm39) E431G possibly damaging Het
Lrrc14b A G 13: 74,512,023 (GRCm39) V19A probably benign Het
Map1lc3a T A 2: 155,118,929 (GRCm39) I31N probably damaging Het
Ms4a20 A T 19: 11,083,114 (GRCm39) I102K possibly damaging Het
Obscn T C 11: 58,945,722 (GRCm39) Y4163C probably damaging Het
Or5p6 T A 7: 107,631,558 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,280,070 (GRCm39) T632A probably benign Het
Ppp1r15a A G 7: 45,174,595 (GRCm39) L71P possibly damaging Het
Ptgs2 T G 1: 149,981,228 (GRCm39) F504V probably damaging Het
Rimbp2 T G 5: 128,848,821 (GRCm39) R908S probably damaging Het
Rnh1 T C 7: 140,743,096 (GRCm39) N268S probably damaging Het
Sap30l T C 11: 57,696,994 (GRCm39) probably null Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Serpina12 T C 12: 104,004,158 (GRCm39) Y158C probably damaging Het
Tmem237 A T 1: 59,148,286 (GRCm39) D148E probably damaging Het
Trmt13 T C 3: 116,379,451 (GRCm39) D232G probably benign Het
Zan T A 5: 137,462,201 (GRCm39) T993S unknown Het
Zfp236 G A 18: 82,698,827 (GRCm39) L85F probably damaging Het
Zfp352 G A 4: 90,112,324 (GRCm39) D155N possibly damaging Het
Zfp867 T C 11: 59,355,834 (GRCm39) probably benign Het
Zmiz2 T C 11: 6,349,536 (GRCm39) F399L 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
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 2016-08-02