Incidental Mutation 'IGL02943:Phf20l1'
ID 364619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf20l1
Ensembl Gene ENSMUSG00000072501
Gene Name PHD finger protein 20-like 1
Synonyms E130113K22Rik, CGI-72
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # IGL02943
Quality Score
Status
Chromosome 15
Chromosomal Location 66449409-66519825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66466733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 54 (Y54C)
Ref Sequence ENSEMBL: ENSMUSP00000155465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230882] [ENSMUST00000230948]
AlphaFold Q8CCJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000048188
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: Y54C

DomainStartEndE-ValueType
TUDOR 11 71 7.67e0 SMART
Agenet 11 73 3.53e0 SMART
Agenet 85 141 4.54e-1 SMART
TUDOR 85 141 5.75e-8 SMART
Pfam:DUF3776 210 319 1.3e-31 PFAM
Pfam:PHD20L1_u1 318 413 4.7e-47 PFAM
low complexity region 443 453 N/A INTRINSIC
low complexity region 530 543 N/A INTRINSIC
low complexity region 547 585 N/A INTRINSIC
low complexity region 598 608 N/A INTRINSIC
low complexity region 642 658 N/A INTRINSIC
PHD 683 727 8.45e-3 SMART
low complexity region 879 887 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229160
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000229576
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229590
Predicted Effect probably damaging
Transcript: ENSMUST00000230882
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230915
Predicted Effect probably damaging
Transcript: ENSMUST00000230948
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 T A 1: 87,054,091 (GRCm39) Y236* probably null Het
Ankrd13c C T 3: 157,653,564 (GRCm39) T134M probably damaging Het
Arhgef18 T C 8: 3,498,553 (GRCm39) S529P probably damaging Het
Cdkl2 T A 5: 92,185,103 (GRCm39) N96I possibly damaging Het
Cep57 A T 9: 13,730,149 (GRCm39) probably benign Het
Chchd7 T C 4: 3,942,796 (GRCm39) Y44H probably damaging Het
Ciart T C 3: 95,786,314 (GRCm39) I254V possibly damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dlgap5 A G 14: 47,650,433 (GRCm39) probably null Het
Ednra T A 8: 78,446,683 (GRCm39) I132F probably damaging Het
En2 T C 5: 28,371,524 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,846,613 (GRCm39) R1102G probably damaging Het
Fsip2 C A 2: 82,822,701 (GRCm39) Q6145K probably benign Het
Galnt5 A T 2: 57,889,780 (GRCm39) D460V probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Gpr84 T C 15: 103,217,316 (GRCm39) I254V probably benign Het
Hacd3 A T 9: 64,897,718 (GRCm39) I298N probably damaging Het
Hyal6 T A 6: 24,743,438 (GRCm39) V378E probably damaging Het
Il20rb G T 9: 100,348,305 (GRCm39) H210N probably benign Het
Iqgap2 A G 13: 95,798,243 (GRCm39) probably benign Het
Itga1 C T 13: 115,185,832 (GRCm39) E57K possibly damaging Het
Jmjd1c T A 10: 67,055,433 (GRCm39) D571E probably damaging Het
Kmt2c T C 5: 25,495,821 (GRCm39) S623G probably damaging Het
L3mbtl2 T A 15: 81,570,456 (GRCm39) S645T possibly damaging Het
Lrp2 A G 2: 69,285,854 (GRCm39) V3779A possibly damaging Het
Lrpprc T C 17: 85,078,878 (GRCm39) R279G probably benign Het
Lurap1l A G 4: 80,871,872 (GRCm39) K122E probably damaging Het
Met T C 6: 17,535,928 (GRCm39) Y785H possibly damaging Het
Myh3 T C 11: 66,981,891 (GRCm39) F796L probably benign Het
Myo16 T C 8: 10,450,595 (GRCm39) probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nlrp4c T C 7: 6,068,974 (GRCm39) C292R probably damaging Het
Nmnat1 A G 4: 149,557,745 (GRCm39) L99P probably damaging Het
Or1j12 A T 2: 36,343,051 (GRCm39) L151F probably benign Het
Or5p64 A G 7: 107,854,623 (GRCm39) F241L possibly damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Postn T C 3: 54,285,029 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prdm2 A C 4: 142,858,542 (GRCm39) S1583A probably benign Het
Proser1 T C 3: 53,386,524 (GRCm39) V802A probably damaging Het
Ptprc A T 1: 138,027,251 (GRCm39) N532K probably damaging Het
Ptprk A G 10: 28,351,172 (GRCm39) H555R possibly damaging Het
Ranbp6 T C 19: 29,789,524 (GRCm39) D276G possibly damaging Het
Rasgrf2 A G 13: 92,131,752 (GRCm39) V635A probably damaging Het
Rbm5 T C 9: 107,621,542 (GRCm39) Y620C probably damaging Het
Sall1 C T 8: 89,757,749 (GRCm39) R785H probably damaging Het
Slc22a2 G T 17: 12,828,948 (GRCm39) L351F probably damaging Het
Sorcs3 A T 19: 48,748,377 (GRCm39) Q782L probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r107 T A 6: 131,636,369 (GRCm39) M227L probably damaging Het
Tecpr2 C T 12: 110,934,183 (GRCm39) T1281I probably benign Het
Topbp1 T A 9: 103,205,639 (GRCm39) V759E probably benign Het
Trim2 T C 3: 84,085,483 (GRCm39) T504A probably benign Het
Trpc1 A G 9: 95,590,906 (GRCm39) probably benign Het
Tssk4 T A 14: 55,889,023 (GRCm39) V183E probably damaging Het
Vmn1r202 T C 13: 22,686,364 (GRCm39) T18A probably benign Het
Vmn1r225 T C 17: 20,722,567 (GRCm39) S3P possibly damaging Het
Vmn2r101 T A 17: 19,831,666 (GRCm39) V554E probably damaging Het
Vps13a T C 19: 16,641,250 (GRCm39) I2291V probably damaging Het
Vps39 A G 2: 120,169,968 (GRCm39) S195P possibly damaging Het
Zfand4 T A 6: 116,250,837 (GRCm39) probably benign Het
Other mutations in Phf20l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Phf20l1 APN 15 66,500,884 (GRCm39) missense probably benign 0.28
IGL00484:Phf20l1 APN 15 66,487,482 (GRCm39) splice site probably benign
IGL00668:Phf20l1 APN 15 66,504,698 (GRCm39) missense probably damaging 0.99
IGL00849:Phf20l1 APN 15 66,508,681 (GRCm39) missense probably benign 0.00
IGL00954:Phf20l1 APN 15 66,513,757 (GRCm39) missense probably damaging 1.00
IGL01025:Phf20l1 APN 15 66,484,981 (GRCm39) missense probably damaging 1.00
IGL01504:Phf20l1 APN 15 66,469,540 (GRCm39) missense possibly damaging 0.73
IGL02087:Phf20l1 APN 15 66,500,840 (GRCm39) missense probably damaging 1.00
IGL02273:Phf20l1 APN 15 66,511,874 (GRCm39) missense probably damaging 1.00
IGL02276:Phf20l1 APN 15 66,487,259 (GRCm39) critical splice donor site probably null
IGL02372:Phf20l1 APN 15 66,513,650 (GRCm39) missense probably damaging 1.00
IGL02589:Phf20l1 APN 15 66,487,481 (GRCm39) splice site probably benign
IGL02656:Phf20l1 APN 15 66,501,676 (GRCm39) missense probably damaging 1.00
IGL02691:Phf20l1 APN 15 66,476,713 (GRCm39) missense probably damaging 1.00
IGL02881:Phf20l1 APN 15 66,466,829 (GRCm39) critical splice donor site probably null
IGL02940:Phf20l1 APN 15 66,467,000 (GRCm39) missense probably damaging 1.00
IGL03030:Phf20l1 APN 15 66,513,796 (GRCm39) utr 3 prime probably benign
IGL03034:Phf20l1 APN 15 66,469,252 (GRCm39) missense probably damaging 1.00
Abbreviated UTSW 15 66,504,752 (GRCm39) critical splice donor site probably null
acadia UTSW 15 66,508,669 (GRCm39) missense possibly damaging 0.85
curt UTSW 15 66,511,797 (GRCm39) missense possibly damaging 0.90
Cut UTSW 15 66,484,888 (GRCm39) nonsense probably null
shorthand UTSW 15 66,481,396 (GRCm39) missense probably damaging 1.00
slang UTSW 15 66,513,781 (GRCm39) missense probably benign 0.03
PIT4305001:Phf20l1 UTSW 15 66,484,901 (GRCm39) missense possibly damaging 0.94
R0070:Phf20l1 UTSW 15 66,511,840 (GRCm39) missense probably damaging 1.00
R0070:Phf20l1 UTSW 15 66,511,840 (GRCm39) missense probably damaging 1.00
R0562:Phf20l1 UTSW 15 66,481,453 (GRCm39) missense probably damaging 1.00
R0605:Phf20l1 UTSW 15 66,466,971 (GRCm39) missense probably damaging 1.00
R0787:Phf20l1 UTSW 15 66,487,479 (GRCm39) splice site probably benign
R1458:Phf20l1 UTSW 15 66,476,662 (GRCm39) missense probably damaging 1.00
R1619:Phf20l1 UTSW 15 66,487,108 (GRCm39) missense possibly damaging 0.88
R1781:Phf20l1 UTSW 15 66,504,674 (GRCm39) missense probably damaging 1.00
R2360:Phf20l1 UTSW 15 66,466,769 (GRCm39) missense probably damaging 1.00
R3973:Phf20l1 UTSW 15 66,513,665 (GRCm39) missense probably damaging 1.00
R4374:Phf20l1 UTSW 15 66,476,686 (GRCm39) missense possibly damaging 0.72
R4375:Phf20l1 UTSW 15 66,487,071 (GRCm39) missense probably benign 0.00
R4554:Phf20l1 UTSW 15 66,469,216 (GRCm39) missense probably damaging 1.00
R4913:Phf20l1 UTSW 15 66,476,704 (GRCm39) missense probably benign 0.03
R5092:Phf20l1 UTSW 15 66,508,762 (GRCm39) missense possibly damaging 0.46
R5491:Phf20l1 UTSW 15 66,487,634 (GRCm39) missense possibly damaging 0.67
R5713:Phf20l1 UTSW 15 66,508,669 (GRCm39) missense possibly damaging 0.85
R6126:Phf20l1 UTSW 15 66,508,673 (GRCm39) missense probably benign 0.02
R6213:Phf20l1 UTSW 15 66,504,752 (GRCm39) critical splice donor site probably null
R6569:Phf20l1 UTSW 15 66,501,673 (GRCm39) missense probably damaging 1.00
R6572:Phf20l1 UTSW 15 66,481,396 (GRCm39) missense probably damaging 1.00
R6808:Phf20l1 UTSW 15 66,502,762 (GRCm39) missense probably damaging 0.99
R7100:Phf20l1 UTSW 15 66,476,689 (GRCm39) missense probably benign 0.01
R7208:Phf20l1 UTSW 15 66,476,638 (GRCm39) missense probably benign 0.05
R7436:Phf20l1 UTSW 15 66,469,599 (GRCm39) missense possibly damaging 0.92
R7466:Phf20l1 UTSW 15 66,508,733 (GRCm39) missense probably damaging 1.00
R7604:Phf20l1 UTSW 15 66,475,933 (GRCm39) missense probably benign 0.02
R7863:Phf20l1 UTSW 15 66,487,084 (GRCm39) missense possibly damaging 0.94
R7991:Phf20l1 UTSW 15 66,502,768 (GRCm39) missense possibly damaging 0.64
R8015:Phf20l1 UTSW 15 66,511,797 (GRCm39) missense possibly damaging 0.90
R8161:Phf20l1 UTSW 15 66,475,922 (GRCm39) missense probably damaging 1.00
R8228:Phf20l1 UTSW 15 66,511,789 (GRCm39) missense possibly damaging 0.81
R8857:Phf20l1 UTSW 15 66,513,781 (GRCm39) missense probably benign 0.03
R9295:Phf20l1 UTSW 15 66,513,752 (GRCm39) missense probably damaging 1.00
R9393:Phf20l1 UTSW 15 66,475,955 (GRCm39) missense probably damaging 1.00
R9442:Phf20l1 UTSW 15 66,484,888 (GRCm39) nonsense probably null
R9522:Phf20l1 UTSW 15 66,504,669 (GRCm39) missense possibly damaging 0.89
R9727:Phf20l1 UTSW 15 66,487,231 (GRCm39) missense probably benign 0.01
X0065:Phf20l1 UTSW 15 66,501,655 (GRCm39) nonsense probably null
X0065:Phf20l1 UTSW 15 66,469,527 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18