Incidental Mutation 'R9500:Phf19'
ID 717467
Institutional Source Beutler Lab
Gene Symbol Phf19
Ensembl Gene ENSMUSG00000026873
Gene Name PHD finger protein 19
Synonyms 3321402G02Rik, 3110009G19Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9500 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34783769-34804038 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 34801708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 34 (L34*)
Ref Sequence ENSEMBL: ENSMUSP00000028232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028232] [ENSMUST00000202907]
AlphaFold Q9CXG9
Predicted Effect probably null
Transcript: ENSMUST00000028232
AA Change: L34*
SMART Domains Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873
AA Change: L34*

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 null
Transcript: ENSMUST00000202907
AA Change: L34*
SMART Domains Protein: ENSMUSP00000143954
Gene: ENSMUSG00000026873
AA Change: L34*

DomainStartEndE-ValueType
TUDOR 36 88 2.8e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,091 (GRCm39) T107I possibly damaging Het
Acyp1 T A 12: 85,325,786 (GRCm39) Y71F unknown Het
Akap11 A T 14: 78,748,543 (GRCm39) H1281Q Het
Amz1 T C 5: 140,737,975 (GRCm39) Y412H probably benign Het
Anxa10 C T 8: 62,545,545 (GRCm39) M62I probably benign Het
Arhgap25 T C 6: 87,469,184 (GRCm39) K109E probably damaging Het
Arhgap31 T A 16: 38,460,683 (GRCm39) E43D probably damaging Het
Atf6 T C 1: 170,574,708 (GRCm39) M577V probably damaging Het
Auts2 C A 5: 131,505,620 (GRCm39) A82S unknown Het
Bcl3 T C 7: 19,556,602 (GRCm39) M1V probably null Het
Cblb T C 16: 51,959,993 (GRCm39) probably null Het
Cc2d2b T C 19: 40,797,840 (GRCm39) V820A unknown Het
Clint1 T G 11: 45,797,194 (GRCm39) M425R possibly damaging Het
Clvs1 A G 4: 9,429,834 (GRCm39) D279G probably damaging Het
Colec11 A C 12: 28,645,302 (GRCm39) I123S probably damaging Het
Crebbp C T 16: 3,911,355 (GRCm39) E1460K probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcaf8 C G 1: 171,999,909 (GRCm39) S22R possibly damaging Het
Dmxl1 T C 18: 50,011,271 (GRCm39) S1143P probably damaging Het
Dnhd1 T C 7: 105,353,709 (GRCm39) I2954T probably benign Het
Dop1b C T 16: 93,607,171 (GRCm39) P2275L probably benign Het
Drc3 A G 11: 60,261,334 (GRCm39) S162G probably benign Het
Ehd2 T C 7: 15,686,077 (GRCm39) I332V possibly damaging Het
Eml1 T A 12: 108,493,958 (GRCm39) D584E probably damaging Het
Eogt T C 6: 97,096,992 (GRCm39) T339A probably benign Het
Gbf1 A G 19: 46,258,389 (GRCm39) T949A probably benign Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,749,044 (GRCm39) probably benign Het
Gm11568 AGCCC AGCCCTGCTGCCTGCCC 11: 99,749,065 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,606,120 (GRCm39) C88* probably null Het
Ifit1bl2 A T 19: 34,596,508 (GRCm39) Y369* probably null Het
Igsf6 A G 7: 120,673,697 (GRCm39) L11P probably benign Het
Lars1 A T 18: 42,361,726 (GRCm39) I627N probably damaging Het
Lmo3 G T 6: 138,393,621 (GRCm39) Q11K Het
Mical2 A T 7: 111,936,054 (GRCm39) probably null Het
Mmp23 A G 4: 155,736,567 (GRCm39) V158A probably benign Het
Mmp24 T C 2: 155,654,195 (GRCm39) I391T probably damaging Het
Mrgpra3 A T 7: 47,239,400 (GRCm39) Y175* probably null Het
Mrpl23 G A 7: 142,089,859 (GRCm39) V65M probably damaging Het
Mup1 A G 4: 60,456,488 (GRCm39) L85S possibly damaging Het
Myo15b T C 11: 115,777,466 (GRCm39) L747S probably damaging Het
Nanog G T 6: 122,690,219 (GRCm39) W208L probably damaging Het
Nkg7 A G 7: 43,087,229 (GRCm39) Y112C probably damaging Het
Nup155 A G 15: 8,141,800 (GRCm39) D64G probably damaging Het
Or13p4 A G 4: 118,546,930 (GRCm39) S240P possibly damaging Het
Palm3 T C 8: 84,753,636 (GRCm39) S108P probably damaging Het
Pam T C 1: 97,772,325 (GRCm39) N579D probably benign Het
Pclo A G 5: 14,725,648 (GRCm39) E1502G unknown Het
Pde4dip A G 3: 97,795,896 (GRCm39) S31P unknown Het
Peg10 A T 6: 4,756,871 (GRCm39) K482N unknown Het
Pla2g2c A T 4: 138,461,689 (GRCm39) K53* probably null Het
Pla2g4f T A 2: 120,142,713 (GRCm39) probably null Het
Polk G T 13: 96,630,349 (GRCm39) T404K probably damaging Het
Prkdc T A 16: 15,657,079 (GRCm39) V4058D possibly damaging Het
Prox2 T A 12: 85,134,851 (GRCm39) I477F probably damaging Het
Ptk6 A G 2: 180,837,566 (GRCm39) V451A probably benign Het
Ptpn3 C T 4: 57,205,914 (GRCm39) E693K possibly damaging Het
Rag2 G A 2: 101,461,217 (GRCm39) G509D probably damaging Het
Rapgef2 A G 3: 78,974,093 (GRCm39) C1418R probably benign Het
Rev1 A T 1: 38,102,214 (GRCm39) Y716* probably null Het
Rsl1d1 T A 16: 11,011,385 (GRCm39) T440S possibly damaging Het
Samd14 T A 11: 94,914,372 (GRCm39) Y343* probably null Het
Sema3a A T 5: 13,615,854 (GRCm39) D426V possibly damaging Het
Slc7a11 G A 3: 50,382,201 (GRCm39) T182M probably benign Het
Slitrk5 A G 14: 111,916,726 (GRCm39) I117V possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stil A T 4: 114,878,716 (GRCm39) H384L possibly damaging Het
Suclg2 C A 6: 95,546,666 (GRCm39) R270L probably damaging Het
Taf5 A G 19: 47,065,771 (GRCm39) D492G probably damaging Het
Tes3-ps T A 13: 49,647,815 (GRCm39) Y230* probably null Het
Ttc41 G T 10: 86,565,726 (GRCm39) A427S probably benign Het
Ttn T C 2: 76,553,994 (GRCm39) D30903G probably damaging Het
Txndc16 A T 14: 45,406,798 (GRCm39) L219Q probably null Het
Usp34 T A 11: 23,331,337 (GRCm39) H1098Q probably damaging Het
Vmn2r52 T A 7: 9,905,281 (GRCm39) Y186F probably damaging Het
Zbtb41 T C 1: 139,359,806 (GRCm39) F512S probably damaging Het
Other mutations in Phf19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Phf19 APN 2 34,787,119 (GRCm39) missense probably damaging 0.99
IGL01862:Phf19 APN 2 34,787,067 (GRCm39) critical splice donor site probably null
R0079:Phf19 UTSW 2 34,785,966 (GRCm39) missense probably benign
R0183:Phf19 UTSW 2 34,801,214 (GRCm39) missense probably damaging 1.00
R1289:Phf19 UTSW 2 34,786,042 (GRCm39) missense probably benign
R1632:Phf19 UTSW 2 34,801,631 (GRCm39) missense probably damaging 1.00
R1829:Phf19 UTSW 2 34,801,781 (GRCm39) missense probably benign 0.00
R2057:Phf19 UTSW 2 34,789,620 (GRCm39) missense probably benign 0.06
R2475:Phf19 UTSW 2 34,785,807 (GRCm39) missense probably benign
R3039:Phf19 UTSW 2 34,795,534 (GRCm39) missense probably benign 0.26
R3803:Phf19 UTSW 2 34,789,670 (GRCm39) missense probably damaging 0.99
R3804:Phf19 UTSW 2 34,789,670 (GRCm39) missense probably damaging 0.99
R4885:Phf19 UTSW 2 34,789,718 (GRCm39) missense probably damaging 0.99
R5759:Phf19 UTSW 2 34,787,135 (GRCm39) missense probably damaging 1.00
R6061:Phf19 UTSW 2 34,787,129 (GRCm39) missense probably damaging 1.00
R6949:Phf19 UTSW 2 34,794,143 (GRCm39) missense probably damaging 1.00
R7080:Phf19 UTSW 2 34,788,724 (GRCm39) splice site probably null
R7730:Phf19 UTSW 2 34,785,816 (GRCm39) missense probably damaging 1.00
R7956:Phf19 UTSW 2 34,796,567 (GRCm39) missense possibly damaging 0.84
R8900:Phf19 UTSW 2 34,795,484 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGACAGCTCTGTTCCCTTC -3'
(R):5'- CAGATCCATGGGTCCTTTGC -3'

Sequencing Primer
(F):5'- CCACTTCCAGTTTCCAGGCATG -3'
(R):5'- GTATGGTATAGAGCCACCTTGACTC -3'
Posted On 2022-07-18