Incidental Mutation 'IGL02273:Phf20l1'
ID287258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf20l1
Ensembl Gene ENSMUSG00000072501
Gene NamePHD finger protein 20-like 1
SynonymsCGI-72, E130113K22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock #IGL02273
Quality Score
Status
Chromosome15
Chromosomal Location66577560-66647976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66640025 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 951 (V951E)
Ref Sequence ENSEMBL: ENSMUSP00000035682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230948]
Predicted Effect probably damaging
Transcript: ENSMUST00000048188
AA Change: V951E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: V951E

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: V950E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000229576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230250
Predicted Effect possibly damaging
Transcript: ENSMUST00000230948
AA Change: V924E

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231177
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,830,759 T89A probably benign Het
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Farsa C T 8: 84,867,826 A368V probably damaging Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Ldhd T C 8: 111,627,290 E426G probably benign Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tacc1 A C 8: 25,159,781 L768V probably damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Trmt44 T C 5: 35,574,113 Y190C probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging Het
Other mutations in Phf20l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Phf20l1 APN 15 66629035 missense probably benign 0.28
IGL00484:Phf20l1 APN 15 66615633 splice site probably benign
IGL00668:Phf20l1 APN 15 66632849 missense probably damaging 0.99
IGL00849:Phf20l1 APN 15 66636832 missense probably benign 0.00
IGL00954:Phf20l1 APN 15 66641908 missense probably damaging 1.00
IGL01025:Phf20l1 APN 15 66613132 missense probably damaging 1.00
IGL01504:Phf20l1 APN 15 66597691 missense possibly damaging 0.73
IGL02087:Phf20l1 APN 15 66628991 missense probably damaging 1.00
IGL02276:Phf20l1 APN 15 66615410 critical splice donor site probably null
IGL02372:Phf20l1 APN 15 66641801 missense probably damaging 1.00
IGL02589:Phf20l1 APN 15 66615632 splice site probably benign
IGL02656:Phf20l1 APN 15 66629827 missense probably damaging 1.00
IGL02691:Phf20l1 APN 15 66604864 missense probably damaging 1.00
IGL02881:Phf20l1 APN 15 66594980 critical splice donor site probably null
IGL02940:Phf20l1 APN 15 66595151 missense probably damaging 1.00
IGL02943:Phf20l1 APN 15 66594884 missense probably damaging 1.00
IGL03030:Phf20l1 APN 15 66641947 utr 3 prime probably benign
IGL03034:Phf20l1 APN 15 66597403 missense probably damaging 1.00
PIT4305001:Phf20l1 UTSW 15 66613052 missense possibly damaging 0.94
R0070:Phf20l1 UTSW 15 66639991 missense probably damaging 1.00
R0070:Phf20l1 UTSW 15 66639991 missense probably damaging 1.00
R0562:Phf20l1 UTSW 15 66609604 missense probably damaging 1.00
R0605:Phf20l1 UTSW 15 66595122 missense probably damaging 1.00
R0787:Phf20l1 UTSW 15 66615630 splice site probably benign
R1458:Phf20l1 UTSW 15 66604813 missense probably damaging 1.00
R1619:Phf20l1 UTSW 15 66615259 missense possibly damaging 0.88
R1781:Phf20l1 UTSW 15 66632825 missense probably damaging 1.00
R2360:Phf20l1 UTSW 15 66594920 missense probably damaging 1.00
R3973:Phf20l1 UTSW 15 66641816 missense probably damaging 1.00
R4374:Phf20l1 UTSW 15 66604837 missense possibly damaging 0.72
R4375:Phf20l1 UTSW 15 66615222 missense probably benign 0.00
R4554:Phf20l1 UTSW 15 66597367 missense probably damaging 1.00
R4913:Phf20l1 UTSW 15 66604855 missense probably benign 0.03
R5092:Phf20l1 UTSW 15 66636913 missense possibly damaging 0.46
R5491:Phf20l1 UTSW 15 66615785 missense possibly damaging 0.67
R5713:Phf20l1 UTSW 15 66636820 missense possibly damaging 0.85
R6126:Phf20l1 UTSW 15 66636824 missense probably benign 0.02
R6213:Phf20l1 UTSW 15 66632903 critical splice donor site probably null
R6569:Phf20l1 UTSW 15 66629824 missense probably damaging 1.00
R6572:Phf20l1 UTSW 15 66609547 missense probably damaging 1.00
R6808:Phf20l1 UTSW 15 66630913 missense probably damaging 0.99
R7100:Phf20l1 UTSW 15 66604840 missense probably benign 0.01
R7208:Phf20l1 UTSW 15 66604789 missense probably benign 0.05
R7436:Phf20l1 UTSW 15 66597750 missense possibly damaging 0.92
R7466:Phf20l1 UTSW 15 66636884 missense probably damaging 1.00
R7604:Phf20l1 UTSW 15 66604084 missense probably benign 0.02
R7863:Phf20l1 UTSW 15 66615235 missense possibly damaging 0.94
R7946:Phf20l1 UTSW 15 66615235 missense possibly damaging 0.94
R8015:Phf20l1 UTSW 15 66639948 missense possibly damaging 0.90
X0065:Phf20l1 UTSW 15 66597678 missense probably damaging 0.99
X0065:Phf20l1 UTSW 15 66629806 nonsense probably null
Posted On2015-04-16