Incidental Mutation 'R0671:Potefam1'
ID 61417
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 038856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0671 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 110880755-111059948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 111034482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 350 (V350G)
Ref Sequence ENSEMBL: ENSMUSP00000028577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000028577] [ENSMUST00000142636] [ENSMUST00000142636]
AlphaFold Q05AC5
Predicted Effect possibly damaging
Transcript: ENSMUST00000028577
AA Change: V350G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: V350G

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: ENSMUST00000028577
AA Change: V350G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: V350G

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: ENSMUST00000142636
SMART Domains Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157

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
Predicted Effect probably benign
Transcript: ENSMUST00000142636
SMART Domains Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 99% (125/126)
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,637 (GRCm39) probably benign Het
A530064D06Rik G A 17: 48,473,824 (GRCm39) T31I probably benign Het
Abca17 A G 17: 24,500,223 (GRCm39) F1323L probably benign Het
Abcf3 T A 16: 20,369,237 (GRCm39) N206K probably damaging Het
Adam10 A G 9: 70,673,223 (GRCm39) probably benign Het
Adamtsl3 A T 7: 82,172,390 (GRCm39) Q451L probably damaging Het
Adgrl3 T A 5: 81,708,752 (GRCm39) I413N probably benign Het
Asb18 G T 1: 89,920,893 (GRCm39) A128E probably damaging Het
Atf7ip2 T C 16: 10,059,743 (GRCm39) S428P possibly damaging Het
Atp8b5 G T 4: 43,291,672 (GRCm39) C15F possibly damaging Het
Bahcc1 A G 11: 120,178,146 (GRCm39) E2235G probably damaging Het
Blnk G T 19: 40,926,111 (GRCm39) S330* probably null Het
Bpnt1 T G 1: 185,088,808 (GRCm39) N319K probably benign Het
Brip1 G A 11: 86,043,493 (GRCm39) T357I possibly damaging Het
Cadm1 T A 9: 47,725,104 (GRCm39) D288E probably benign Het
Calcoco2 A G 11: 95,998,354 (GRCm39) V23A probably damaging Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Ccdc154 G T 17: 25,386,259 (GRCm39) probably benign Het
Cdk12 T C 11: 98,120,935 (GRCm39) probably benign Het
Clec4a3 A G 6: 122,930,993 (GRCm39) probably null Het
Cpne2 T A 8: 95,274,970 (GRCm39) probably benign Het
Cyfip1 T C 7: 55,573,710 (GRCm39) probably null Het
Cyp26c1 A G 19: 37,675,009 (GRCm39) H110R probably damaging Het
Cyp2j13 A G 4: 95,959,932 (GRCm39) Y75H probably damaging Het
Defb43 T A 14: 63,249,287 (GRCm39) V10D probably damaging Het
Dhx36 G A 3: 62,401,162 (GRCm39) S368L possibly damaging Het
Dock6 G A 9: 21,715,923 (GRCm39) probably benign Het
Elp2 T C 18: 24,745,499 (GRCm39) probably benign Het
Emilin3 A G 2: 160,750,249 (GRCm39) L453P probably damaging Het
Eml6 A T 11: 29,755,065 (GRCm39) D903E probably benign Het
Ep300 T C 15: 81,500,335 (GRCm39) probably benign Het
Ep400 G A 5: 110,836,062 (GRCm39) T1899M unknown Het
Fancg A G 4: 43,002,998 (GRCm39) S620P probably benign Het
Fbxo42 G A 4: 140,922,550 (GRCm39) V239M probably damaging Het
Fermt2 T C 14: 45,706,776 (GRCm39) D340G probably benign Het
Filip1 A T 9: 79,726,672 (GRCm39) V649E probably damaging Het
Fut8 G A 12: 77,521,791 (GRCm39) E477K probably damaging Het
Gbp3 G A 3: 142,271,151 (GRCm39) G185D probably benign Het
Gclc G T 9: 77,694,080 (GRCm39) D345Y probably damaging Het
Gfus A G 15: 75,800,807 (GRCm39) V27A possibly damaging Het
Gkn2 A G 6: 87,352,800 (GRCm39) D43G possibly damaging Het
Gnptab A G 10: 88,279,166 (GRCm39) probably benign Het
Greb1l C T 18: 10,474,303 (GRCm39) T206I probably damaging Het
Grk4 A G 5: 34,905,611 (GRCm39) N452S probably benign Het
Hcn2 G C 10: 79,570,066 (GRCm39) probably null Het
Hpn T C 7: 30,808,585 (GRCm39) K76E possibly damaging Het
Hspg2 A G 4: 137,280,591 (GRCm39) D3268G probably damaging Het
Immt A T 6: 71,848,541 (GRCm39) Q467L possibly damaging Het
Kalrn T C 16: 33,936,778 (GRCm39) S1636G probably benign Het
Kcnh8 T A 17: 53,285,141 (GRCm39) L1037* probably null Het
Klhl33 T C 14: 51,129,851 (GRCm39) T548A probably damaging Het
Klri2 T C 6: 129,717,171 (GRCm39) I71V probably benign Het
Kmt2c A T 5: 25,609,363 (GRCm39) C254S probably damaging Het
Lama3 T C 18: 12,610,647 (GRCm39) I1170T possibly damaging Het
Med12l A G 3: 59,172,350 (GRCm39) Q1702R probably damaging Het
Mga A T 2: 119,750,391 (GRCm39) probably null Het
Mis18a A T 16: 90,517,561 (GRCm39) I172K possibly damaging Het
Mrgpre T C 7: 143,335,254 (GRCm39) D83G probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mrpl39 T C 16: 84,531,282 (GRCm39) probably benign Het
Mrrf C T 2: 36,043,710 (GRCm39) A149V probably benign Het
Mycbp2 A T 14: 103,432,024 (GRCm39) M2338K possibly damaging Het
Myo18b T C 5: 112,840,632 (GRCm39) Q2387R probably benign Het
N4bp2 T C 5: 65,964,780 (GRCm39) I943T probably damaging Het
Ncapd3 T A 9: 26,998,773 (GRCm39) N1254K probably benign Het
Ncoa1 A T 12: 4,299,758 (GRCm39) probably null Het
Ncor2 C T 5: 125,126,451 (GRCm39) A136T probably benign Het
Opa1 T C 16: 29,421,025 (GRCm39) probably benign Het
Or13a25 A G 7: 140,247,590 (GRCm39) D123G probably damaging Het
Or5p59 C A 7: 107,703,363 (GRCm39) Y282* probably null Het
Or8b39 T A 9: 37,996,423 (GRCm39) M97K possibly damaging Het
Or9e1 T A 11: 58,732,681 (GRCm39) I247N possibly damaging Het
Pcdhb4 T C 18: 37,440,795 (GRCm39) M35T probably benign Het
Per3 T C 4: 151,113,288 (GRCm39) I347V probably benign Het
Pex13 G A 11: 23,615,831 (GRCm39) P5L possibly damaging Het
Phkb T A 8: 86,602,322 (GRCm39) W38R probably damaging Het
Plekhf1 A T 7: 37,920,826 (GRCm39) D247E probably benign Het
Plxnb2 A G 15: 89,042,184 (GRCm39) S1607P probably benign Het
Plxnc1 T A 10: 94,635,194 (GRCm39) H1344L possibly damaging Het
Ptk7 T G 17: 46,901,238 (GRCm39) N196H possibly damaging Het
Rab27a G T 9: 72,982,715 (GRCm39) D7Y probably damaging Het
Rars2 T A 4: 34,630,505 (GRCm39) C82* probably null Het
Rccd1 A T 7: 79,969,965 (GRCm39) probably benign Het
Riiad1 T C 3: 94,379,546 (GRCm39) I56V possibly damaging Het
Rnase4 A G 14: 51,342,507 (GRCm39) E77G probably damaging Het
Rnf126 A T 10: 79,597,441 (GRCm39) I157N possibly damaging Het
Rnf207 T C 4: 152,391,925 (GRCm39) R623G probably benign Het
Rpusd1 T G 17: 25,947,498 (GRCm39) F62V possibly damaging Het
Rxfp1 T C 3: 79,570,600 (GRCm39) probably null Het
Scfd1 A T 12: 51,459,411 (GRCm39) Q324L probably benign Het
Skint3 G T 4: 112,112,974 (GRCm39) E195* probably null Het
Slc7a10 A T 7: 34,896,758 (GRCm39) T165S probably benign Het
Smagp A G 15: 100,519,733 (GRCm39) I97T probably damaging Het
Sostdc1 A G 12: 36,367,340 (GRCm39) H172R probably damaging Het
Spast A G 17: 74,646,446 (GRCm39) probably benign Het
Sspo G T 6: 48,467,325 (GRCm39) probably benign Het
Ston2 C T 12: 91,707,240 (GRCm39) probably null Het
Tas2r103 T G 6: 133,013,313 (GRCm39) E251A probably benign Het
Tbc1d2b A T 9: 90,104,558 (GRCm39) probably benign Het
Telo2 G A 17: 25,332,139 (GRCm39) P143L probably benign Het
Tgfbi A T 13: 56,786,539 (GRCm39) Y674F probably null Het
Tha1 T A 11: 117,763,983 (GRCm39) probably benign Het
Timp4 T A 6: 115,226,814 (GRCm39) S110C probably damaging Het
Tlr6 T C 5: 65,111,935 (GRCm39) K324R probably benign Het
Tnip3 A G 6: 65,574,347 (GRCm39) E137G probably damaging Het
Top6bl A G 19: 4,676,216 (GRCm39) S639P probably damaging Het
Trak1 T C 9: 121,278,021 (GRCm39) probably null Het
Trim47 A G 11: 115,999,178 (GRCm39) S233P probably benign Het
Tspoap1 A T 11: 87,653,635 (GRCm39) E155V probably damaging Het
Uggt1 A T 1: 36,194,209 (GRCm39) L1343Q probably damaging Het
Utp14b T C 1: 78,642,452 (GRCm39) S117P probably benign Het
Vmn1r124 A T 7: 20,994,436 (GRCm39) V36D probably damaging Het
Wdr27 T C 17: 15,148,658 (GRCm39) T112A probably benign Het
Wdr90 T C 17: 26,065,367 (GRCm39) T1630A probably benign Het
Zfp352 A G 4: 90,112,156 (GRCm39) T99A probably benign 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
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
Predicted Primers
Posted On 2013-07-30