Incidental Mutation 'IGL01862:Phf19'
ID178406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf19
Ensembl Gene ENSMUSG00000026873
Gene NamePHD finger protein 19
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.441) question?
Stock #IGL01862
Quality Score
Status
Chromosome2
Chromosomal Location34893757-34914026 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 34897055 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028228] [ENSMUST00000028232] [ENSMUST00000047447] [ENSMUST00000113068] [ENSMUST00000184164]
Predicted Effect probably benign
Transcript: ENSMUST00000028228
SMART Domains Protein: ENSMUSP00000028228
Gene: ENSMUSG00000026870

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:CutA1 53 109 2.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028228
SMART Domains Protein: ENSMUSP00000144258
Gene: ENSMUSG00000026870

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:CutA1 54 110 9e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000028232
SMART Domains Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873

DomainStartEndE-ValueType
TUDOR 36 93 2.33e-8 SMART
PHD 96 147 2.87e-5 SMART
low complexity region 154 165 N/A INTRINSIC
PHD 195 245 2.11e-3 SMART
low complexity region 382 395 N/A INTRINSIC
low complexity region 442 464 N/A INTRINSIC
Pfam:Mtf2_C 529 576 5.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047447
SMART Domains Protein: ENSMUSP00000038452
Gene: ENSMUSG00000026870

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:CutA1 54 152 6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113068
SMART Domains Protein: ENSMUSP00000108691
Gene: ENSMUSG00000026870

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:CutA1 53 154 1.9e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129911
Predicted Effect probably benign
Transcript: ENSMUST00000184164
SMART Domains Protein: ENSMUSP00000144477
Gene: ENSMUSG00000026870

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:CutA1 54 152 6e-33 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik G A 1: 134,390,611 V374I probably benign Het
Abca8b G T 11: 109,947,171 S1085* probably null Het
Akap9 T G 5: 3,951,705 S94A probably damaging Het
Akap9 T A 5: 4,065,856 N3425K probably damaging Het
Anapc7 T A 5: 122,440,119 I389N probably benign Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Cacna1h C T 17: 25,383,483 G1524R probably damaging Het
Cacng4 T C 11: 107,794,370 Y32C probably damaging Het
Ccdc130 G T 8: 84,260,534 probably benign Het
Cep120 A C 18: 53,714,767 S673R probably benign Het
Cep162 T C 9: 87,253,933 E19G possibly damaging Het
Cpxm2 C T 7: 132,059,811 V416I probably benign Het
Dapk1 A G 13: 60,726,610 T427A probably benign Het
Ecm1 A T 3: 95,734,273 D549E probably benign Het
Efemp1 T A 11: 28,921,428 N342K probably damaging Het
Erc2 T C 14: 28,271,569 probably benign Het
Fam160b2 C T 14: 70,587,690 R402H probably benign Het
Galnt13 T C 2: 54,857,914 V269A probably damaging Het
Gm6465 T G 5: 11,849,053 L171R probably damaging Het
Gpatch1 A G 7: 35,295,278 V521A probably benign Het
Heatr5b A T 17: 78,796,485 V1087E possibly damaging Het
Ikzf2 A T 1: 69,538,898 V484D probably damaging Het
Ints4 T A 7: 97,541,153 V953E probably damaging Het
Iqce T C 5: 140,699,725 D15G possibly damaging Het
Kif3a T A 11: 53,570,541 N4K possibly damaging Het
Lrch4 A T 5: 137,637,009 I254F probably damaging Het
Ly75 A T 2: 60,299,172 V1623D probably damaging Het
Mapt T A 11: 104,290,002 probably benign Het
Mast1 A T 8: 84,913,246 probably null Het
Mcc G T 18: 44,759,296 Q84K probably benign Het
Mtfr2 G A 10: 20,348,403 V28M probably benign Het
Myh8 T A 11: 67,289,694 Y585* probably null Het
Napsa T C 7: 44,582,493 V202A probably damaging Het
Nsd2 A G 5: 33,843,736 K199R probably null Het
Ntpcr C T 8: 125,736,098 A18V probably benign Het
Olfr1009 G T 2: 85,722,128 C241F probably damaging Het
Olfr117 G T 17: 37,659,477 N285K probably damaging Het
Olfr169 A T 16: 19,566,676 M69K probably damaging Het
Olfr689 T A 7: 105,314,232 I76N probably damaging Het
Olfr877 A G 9: 37,855,181 D121G probably damaging Het
Os9 A G 10: 127,099,704 V299A probably benign Het
Pcdhb7 T C 18: 37,343,862 S684P possibly damaging Het
Pkd1l3 G A 8: 109,631,276 probably null Het
Pkhd1 A G 1: 20,358,910 I2422T probably damaging Het
Plxna2 T A 1: 194,643,950 V64E possibly damaging Het
Psme4 T A 11: 30,812,038 C459* probably null Het
Ptk6 T C 2: 181,199,640 S159G probably benign Het
Rhd T C 4: 134,890,339 I329T possibly damaging Het
Scfd1 A G 12: 51,445,711 Y601C probably damaging Het
Shroom3 T C 5: 92,962,289 S1753P probably damaging Het
Slc8a1 A C 17: 81,442,201 probably null Het
Spg7 T A 8: 123,076,930 L233Q probably damaging Het
Strip1 C A 3: 107,621,882 R353L probably damaging Het
Ubr1 T C 2: 120,934,342 N544D possibly damaging Het
Ubr4 A G 4: 139,477,158 T4794A possibly damaging Het
Usp24 A G 4: 106,408,898 probably benign Het
Vmn1r193 A T 13: 22,219,814 C3S probably benign Het
Zdhhc5 C T 2: 84,690,492 R447H probably benign Het
Zfp202 A G 9: 40,211,828 I629V probably benign Het
Zfp462 T A 4: 55,023,441 C990S probably damaging Het
Other mutations in Phf19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Phf19 APN 2 34897107 missense probably damaging 0.99
R0079:Phf19 UTSW 2 34895954 missense probably benign
R0183:Phf19 UTSW 2 34911202 missense probably damaging 1.00
R1289:Phf19 UTSW 2 34896030 missense probably benign
R1632:Phf19 UTSW 2 34911619 missense probably damaging 1.00
R1829:Phf19 UTSW 2 34911769 missense probably benign 0.00
R2057:Phf19 UTSW 2 34899608 missense probably benign 0.06
R2475:Phf19 UTSW 2 34895795 missense probably benign
R3039:Phf19 UTSW 2 34905522 missense probably benign 0.26
R3803:Phf19 UTSW 2 34899658 missense probably damaging 0.99
R3804:Phf19 UTSW 2 34899658 missense probably damaging 0.99
R4885:Phf19 UTSW 2 34899706 missense probably damaging 0.99
R5759:Phf19 UTSW 2 34897123 missense probably damaging 1.00
R6061:Phf19 UTSW 2 34897117 missense probably damaging 1.00
R6949:Phf19 UTSW 2 34904131 missense probably damaging 1.00
Posted On2014-05-07