Incidental Mutation 'R6949:Phf19'
ID 543226
Institutional Source Beutler Lab
Gene Symbol Phf19
Ensembl Gene ENSMUSG00000026873
Gene Name PHD finger protein 19
Synonyms 3321402G02Rik, 3110009G19Rik
MMRRC Submission 045061-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6949 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 34783769-34804038 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34794143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 210 (Q210K)
Ref Sequence ENSEMBL: ENSMUSP00000028232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028232] [ENSMUST00000202907]
AlphaFold Q9CXG9
Predicted Effect probably damaging
Transcript: ENSMUST00000028232
AA Change: Q210K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873
AA Change: Q210K

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: ENSMUST00000202907
SMART Domains Protein: ENSMUSP00000143954
Gene: ENSMUSG00000026873

DomainStartEndE-ValueType
TUDOR 36 88 2.8e-7 SMART
Meta Mutation Damage Score 0.8118 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G T 3: 126,804,533 (GRCm39) D679E probably benign Het
Catsper4 A T 4: 133,953,058 (GRCm39) Y96N probably benign Het
Cnksr3 T C 10: 7,110,757 (GRCm39) I35V probably benign Het
Col16a1 A G 4: 129,953,116 (GRCm39) E424G probably damaging Het
Ctsc G T 7: 87,930,666 (GRCm39) G82W probably damaging Het
Cxcr4 T C 1: 128,517,352 (GRCm39) D101G probably benign Het
Dapk1 T A 13: 60,884,138 (GRCm39) N635K probably benign Het
Dop1a T C 9: 86,382,913 (GRCm39) M282T probably damaging Het
Dpysl4 G A 7: 138,671,915 (GRCm39) E172K probably damaging Het
Efcab3 A C 11: 104,799,896 (GRCm39) T2931P probably damaging Het
Eif2ak3 T C 6: 70,855,829 (GRCm39) I211T probably damaging Het
Fbxw22 A T 9: 109,211,144 (GRCm39) W386R probably benign Het
Garin1b T A 6: 29,323,905 (GRCm39) I210N probably damaging Het
Grm7 A G 6: 110,623,265 (GRCm39) K146R probably benign Het
Grm7 C A 6: 111,472,690 (GRCm39) P843Q probably damaging Het
Gtf2e2 A G 8: 34,248,726 (GRCm39) D171G probably damaging Het
Hyal5 T C 6: 24,876,303 (GRCm39) S59P probably benign Het
Il7r T A 15: 9,508,090 (GRCm39) T411S probably damaging Het
Kcp T A 6: 29,484,611 (GRCm39) probably null Het
Krcc1 T C 6: 71,261,135 (GRCm39) Y56H probably benign Het
Lmo2 T A 2: 103,801,018 (GRCm39) M1K probably null Het
Lrit3 G A 3: 129,582,934 (GRCm39) T351I probably damaging Het
Mcu T G 10: 59,292,566 (GRCm39) T38P possibly damaging Het
Mylk T A 16: 34,820,688 (GRCm39) I89N probably damaging Het
Ncoa2 A T 1: 13,226,725 (GRCm39) C996S possibly damaging Het
Npr2 A G 4: 43,640,597 (GRCm39) E350G probably damaging Het
Or5an1b T C 19: 12,299,792 (GRCm39) Y133C probably damaging Het
Pald1 T C 10: 61,156,996 (GRCm39) E818G probably benign Het
Pomgnt1 G A 4: 116,011,351 (GRCm39) V250M probably damaging Het
Ppm1l T A 3: 69,456,736 (GRCm39) C218S possibly damaging Het
Prkdc G A 16: 15,617,853 (GRCm39) R3228H probably benign Het
Pros1 A T 16: 62,744,938 (GRCm39) T518S probably benign Het
Rdh8 T A 9: 20,734,003 (GRCm39) V63D probably benign Het
Rexo1 A G 10: 80,386,470 (GRCm39) V196A possibly damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Scn11a A G 9: 119,594,580 (GRCm39) V1271A probably benign Het
Serac1 C A 17: 6,102,090 (GRCm39) D395Y probably damaging Het
Syne2 A G 12: 76,012,771 (GRCm39) D2655G probably benign Het
Tm4sf19 T C 16: 32,224,676 (GRCm39) V8A probably benign Het
Usp3 A T 9: 66,427,972 (GRCm39) D334E probably benign Het
Uty C T Y: 1,240,000 (GRCm39) probably null Het
Vmn2r7 T C 3: 64,598,542 (GRCm39) N672D probably damaging Het
Vmn2r96 T A 17: 18,818,100 (GRCm39) L751H probably damaging Het
Wnk2 T C 13: 49,254,616 (GRCm39) S300G probably damaging Het
Zp3r G T 1: 130,505,632 (GRCm39) S508R probably benign 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
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
R9500:Phf19 UTSW 2 34,801,708 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAATCAGCAGCAACTAGGCATG -3'
(R):5'- TAGATGGCAGACTGCTCCTC -3'

Sequencing Primer
(F):5'- GCATGTAGCCCAGCATGTTC -3'
(R):5'- CCCCCGGTCCTGAGTTTTAGAG -3'
Posted On 2018-11-28