Incidental Mutation 'IGL03034:Phf20l1'
ID 408582
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 # IGL03034
Quality Score
Status
Chromosome 15
Chromosomal Location 66449409-66519825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66469252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 129 (K129E)
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: K129E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: K129E

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: K129E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000229576
AA Change: K129E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229590
Predicted Effect probably damaging
Transcript: ENSMUST00000230882
AA Change: K129E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230915
Predicted Effect probably damaging
Transcript: ENSMUST00000230948
AA Change: K129E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Asgr2 G T 11: 69,989,089 (GRCm39) G178W probably damaging Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cox7a1 A G 7: 29,884,693 (GRCm39) probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or52p2 G A 7: 102,237,147 (GRCm39) H268Y probably benign Het
Or5an1b T C 19: 12,300,018 (GRCm39) T58A possibly damaging Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Or6c2 A T 10: 129,362,527 (GRCm39) I144F probably benign Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phka2 G T X: 159,360,546 (GRCm39) E858* probably null Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S 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
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 2016-08-02