Incidental Mutation 'R1781:Phf20l1'
ID 195325
Institutional Source Beutler Lab
Gene Symbol Phf20l1
Ensembl Gene ENSMUSG00000072501
Gene Name PHD finger protein 20-like 1
Synonyms E130113K22Rik, CGI-72
MMRRC Submission 039812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R1781 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 66449409-66519825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66504674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 771 (T771A)
Ref Sequence ENSEMBL: ENSMUSP00000155487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230948]
AlphaFold Q8CCJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000048188
AA Change: T772A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: T772A

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 noncoding transcript
Transcript: ENSMUST00000229033
Predicted Effect probably damaging
Transcript: ENSMUST00000229160
AA Change: T771A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000229576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230250
Predicted Effect possibly damaging
Transcript: ENSMUST00000230948
AA Change: T745A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231177
Meta Mutation Damage Score 0.1483 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 97% (88/91)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,932,117 (GRCm39) K211E probably damaging Het
Abca13 T A 11: 9,219,194 (GRCm39) L376Q probably damaging Het
Abca17 T C 17: 24,486,531 (GRCm39) T1499A possibly damaging Het
Anks6 A C 4: 47,043,639 (GRCm39) N363K possibly damaging Het
Apob T A 12: 8,059,603 (GRCm39) I2695N possibly damaging Het
Arhgef18 C T 8: 3,430,495 (GRCm39) R123W probably damaging Het
Atg14 T A 14: 47,786,607 (GRCm39) probably null Het
Atg2a A T 19: 6,306,243 (GRCm39) I1368F probably damaging Het
Btbd9 A G 17: 30,732,567 (GRCm39) S373P probably damaging Het
Ccdc83 T C 7: 89,899,749 (GRCm39) E41G probably damaging Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdh8 T C 8: 99,917,094 (GRCm39) probably null Het
Cdh8 A T 8: 100,006,290 (GRCm39) I99N probably damaging Het
Cdr2 G A 7: 120,557,268 (GRCm39) P419L probably benign Het
Cds1 T A 5: 101,960,416 (GRCm39) I289K possibly damaging Het
Cherp G A 8: 73,221,615 (GRCm39) T394I probably damaging Het
Cyp4f17 T G 17: 32,742,993 (GRCm39) I222S possibly damaging Het
Dcc A G 18: 71,511,788 (GRCm39) S856P probably benign Het
Dcp1a C T 14: 30,235,032 (GRCm39) T221I probably benign Het
Ddx10 A G 9: 53,118,845 (GRCm39) S475P probably damaging Het
Dennd5b G T 6: 148,928,896 (GRCm39) A759E probably damaging Het
Disp2 G A 2: 118,623,042 (GRCm39) G1258D probably damaging Het
Fhdc1 A T 3: 84,356,111 (GRCm39) D444E probably damaging Het
Fhod1 T C 8: 106,074,421 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,800 (GRCm39) K8R probably benign Het
Gk5 C T 9: 96,015,508 (GRCm39) T108I possibly damaging Het
Gm8214 C A 1: 183,414,129 (GRCm39) noncoding transcript Het
Gnl1 A T 17: 36,298,638 (GRCm39) I434F probably damaging Het
Golga2 T C 2: 32,196,588 (GRCm39) Y986H probably damaging Het
Gpr21 T C 2: 37,407,550 (GRCm39) V32A probably benign Het
Grb14 A T 2: 64,805,899 (GRCm39) probably null Het
H6pd A T 4: 150,080,388 (GRCm39) F144L probably damaging Het
Hunk A G 16: 90,229,448 (GRCm39) Y27C probably damaging Het
Ints7 C T 1: 191,328,396 (GRCm39) T223M possibly damaging Het
Kcnmb2 T C 3: 32,233,152 (GRCm39) probably null Het
Lilra6 A T 7: 3,918,066 (GRCm39) L26H probably benign Het
Mc4r A T 18: 66,992,918 (GRCm39) V65E probably damaging Het
Mgam G A 6: 40,646,797 (GRCm39) G708R probably damaging Het
Mllt6 A G 11: 97,563,395 (GRCm39) D326G probably benign Het
Myo7a A T 7: 97,722,331 (GRCm39) V1198D probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Nlrp4b G C 7: 10,449,266 (GRCm39) V123L probably benign Het
Ntpcr T A 8: 126,472,141 (GRCm39) L150Q probably damaging Het
Obscn C T 11: 58,997,163 (GRCm39) E1513K probably damaging Het
Ola1 T C 2: 72,987,099 (GRCm39) K178E possibly damaging Het
Opalin T C 19: 41,056,070 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,541 (GRCm39) N284S probably damaging Het
Or13a20 A T 7: 140,232,419 (GRCm39) I176F probably damaging Het
Or2ad1 C T 13: 21,326,934 (GRCm39) V98I probably benign Het
Or2w2 C T 13: 21,757,711 (GRCm39) G305D probably damaging Het
Or3a10 A T 11: 73,935,786 (GRCm39) F105I probably damaging Het
Or51ah3 C T 7: 103,209,773 (GRCm39) P30S probably benign Het
Or52ae9 T C 7: 103,390,028 (GRCm39) M140V probably benign Het
Or52e15 A T 7: 104,645,315 (GRCm39) F265L possibly damaging Het
Or5p62 A G 7: 107,771,090 (GRCm39) V287A probably benign Het
Or7a35 T C 10: 78,853,159 (GRCm39) M1T probably null Het
P2ry12 A G 3: 59,125,199 (GRCm39) F159L probably benign Het
Paqr7 T C 4: 134,234,592 (GRCm39) probably null Het
Parp1 T C 1: 180,415,578 (GRCm39) S466P probably benign Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh1 T C 18: 38,322,977 (GRCm39) D952G probably damaging Het
Pde6c T C 19: 38,140,146 (GRCm39) S336P possibly damaging Het
Pgk2 T C 17: 40,519,398 (GRCm39) D10G probably benign Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Plekhm1 A G 11: 103,285,682 (GRCm39) L251P probably damaging Het
Prex2 A T 1: 11,270,179 (GRCm39) N1288I probably benign Het
Sarnp T C 10: 128,669,191 (GRCm39) L16P probably damaging Het
Scgb3a2 T C 18: 43,900,033 (GRCm39) probably benign Het
Scn11a A T 9: 119,584,148 (GRCm39) I1489N probably damaging Het
Scn3a A T 2: 65,302,729 (GRCm39) L1239Q probably damaging Het
Shisa9 T C 16: 12,085,521 (GRCm39) S377P probably benign Het
Slc22a30 T A 19: 8,313,136 (GRCm39) T550S probably damaging Het
Slc25a11 T C 11: 70,535,651 (GRCm39) T296A probably benign Het
Slc35f1 T A 10: 52,938,532 (GRCm39) probably null Het
Slc6a13 A G 6: 121,311,811 (GRCm39) E396G probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Srsf9 C A 5: 115,465,481 (GRCm39) Y9* probably null Het
Tasor2 T C 13: 3,634,759 (GRCm39) T683A possibly damaging Het
Tbx20 T C 9: 24,636,795 (GRCm39) I431V probably benign Het
Tespa1 G A 10: 130,184,119 (GRCm39) G67S probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Trip12 A T 1: 84,708,342 (GRCm39) F1739I probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 G A 17: 31,187,524 (GRCm39) R196H probably damaging Het
Vezf1 G T 11: 87,972,447 (GRCm39) M269I probably benign Het
Vmn1r35 A T 6: 66,656,550 (GRCm39) M40K probably benign Het
Vmn1r9 G T 6: 57,048,300 (GRCm39) C125F probably benign Het
Vmn2r12 C A 5: 109,239,594 (GRCm39) G323V probably benign Het
Vmn2r79 A T 7: 86,651,555 (GRCm39) H318L probably benign Het
Zfhx3 T A 8: 109,520,167 (GRCm39) S430T 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
IGL02943:Phf20l1 APN 15 66,466,733 (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
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
Predicted Primers
Posted On 2014-05-23