Incidental Mutation 'R4295:Phf14'
ID 323251
Institutional Source Beutler Lab
Gene Symbol Phf14
Ensembl Gene ENSMUSG00000029629
Gene Name PHD finger protein 14
Synonyms 1110001C23Rik, 4932409F11Rik, 5730446A07Rik
MMRRC Submission 041084-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4295 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 11907808-12081204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11987096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 559 (P559S)
Ref Sequence ENSEMBL: ENSMUSP00000111173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090632] [ENSMUST00000115510] [ENSMUST00000115511]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090632
AA Change: P559S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: P559S

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
coiled coil region 61 89 N/A INTRINSIC
low complexity region 97 130 N/A INTRINSIC
low complexity region 131 166 N/A INTRINSIC
low complexity region 223 251 N/A INTRINSIC
PHD 314 371 1.64e-9 SMART
PHD 433 492 1.18e-6 SMART
coiled coil region 620 671 N/A INTRINSIC
PHD 720 770 9.54e-11 SMART
low complexity region 830 848 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115510
AA Change: P559S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: P559S

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
coiled coil region 61 89 N/A INTRINSIC
low complexity region 97 130 N/A INTRINSIC
low complexity region 131 166 N/A INTRINSIC
low complexity region 223 251 N/A INTRINSIC
PHD 314 371 1.64e-9 SMART
PHD 433 492 1.18e-6 SMART
coiled coil region 620 671 N/A INTRINSIC
PHD 720 770 9.54e-11 SMART
low complexity region 830 848 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115511
AA Change: P559S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: P559S

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
coiled coil region 61 89 N/A INTRINSIC
low complexity region 97 130 N/A INTRINSIC
low complexity region 131 166 N/A INTRINSIC
low complexity region 223 251 N/A INTRINSIC
PHD 314 371 1.64e-9 SMART
RING 315 381 1.21e1 SMART
PHD 433 492 1.18e-6 SMART
coiled coil region 620 671 N/A INTRINSIC
PHD 720 770 9.54e-11 SMART
RING 721 769 2.63e0 SMART
low complexity region 830 848 N/A INTRINSIC
PHD 863 912 9.92e-9 SMART
RING 864 911 3.17e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133776
SMART Domains Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
PHD 40 97 1.64e-9 SMART
PHD 159 218 1.18e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204565
Meta Mutation Damage Score 0.1587 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,249 (GRCm39) S164P probably benign Het
4933427D06Rik A G 6: 89,084,883 (GRCm39) noncoding transcript Het
Aldh1l2 C T 10: 83,331,784 (GRCm39) V674M possibly damaging Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Atr A G 9: 95,756,479 (GRCm39) I870V probably benign Het
Cd200r4 T C 16: 44,653,239 (GRCm39) V3A probably damaging Het
Celf2 T C 2: 6,608,875 (GRCm39) N302S probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Dnah17 A T 11: 118,009,598 (GRCm39) I363N probably damaging Het
Fam98a A T 17: 75,848,342 (GRCm39) M124K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Foxj3 G T 4: 119,483,494 (GRCm39) G555* probably null Het
Gm4841 T C 18: 60,403,262 (GRCm39) N277S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lamb2 A G 9: 108,363,410 (GRCm39) D863G probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lcn11 G A 2: 25,668,111 (GRCm39) A90T possibly damaging Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or5m3 T C 2: 85,838,614 (GRCm39) Y165H probably benign Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Or9a4 T A 6: 40,549,090 (GRCm39) F257I probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Pcgf2 A T 11: 97,584,282 (GRCm39) Y24* probably null Het
Pigf A G 17: 87,331,184 (GRCm39) I46T probably benign Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Prdm10 A G 9: 31,227,590 (GRCm39) E65G possibly damaging Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tjp1 T C 7: 64,972,898 (GRCm39) D514G probably damaging Het
Ttll11 TCGCCGCCGCCGCCGCCGCCGC TCGCCGCCGCCGCCGCCGC 2: 35,869,564 (GRCm39) probably benign Het
Unc13c A G 9: 73,641,786 (GRCm39) S1236P probably damaging Het
Utp20 G T 10: 88,590,381 (GRCm39) D2364E possibly damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn1r76 T C 7: 11,665,057 (GRCm39) I52M probably benign Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfp451 A T 1: 33,816,836 (GRCm39) F154L probably damaging Het
Other mutations in Phf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Phf14 APN 6 11,941,423 (GRCm39) splice site probably benign
IGL01120:Phf14 APN 6 11,962,739 (GRCm39) missense probably damaging 1.00
IGL01575:Phf14 APN 6 11,990,050 (GRCm39) missense probably damaging 1.00
IGL02153:Phf14 APN 6 11,934,015 (GRCm39) missense probably damaging 0.99
IGL02735:Phf14 APN 6 11,987,611 (GRCm39) missense probably benign 0.21
IGL03294:Phf14 APN 6 11,953,366 (GRCm39) missense probably damaging 1.00
IGL03392:Phf14 APN 6 11,962,658 (GRCm39) missense probably damaging 1.00
G1Funyon:Phf14 UTSW 6 11,992,061 (GRCm39) missense probably damaging 0.97
R0060:Phf14 UTSW 6 11,953,316 (GRCm39) missense probably damaging 0.97
R0099:Phf14 UTSW 6 11,987,696 (GRCm39) unclassified probably benign
R0384:Phf14 UTSW 6 11,997,019 (GRCm39) splice site probably benign
R0433:Phf14 UTSW 6 11,933,742 (GRCm39) missense probably damaging 1.00
R0563:Phf14 UTSW 6 11,933,600 (GRCm39) intron probably benign
R0590:Phf14 UTSW 6 11,961,577 (GRCm39) missense possibly damaging 0.72
R1066:Phf14 UTSW 6 11,987,254 (GRCm39) missense possibly damaging 0.47
R1187:Phf14 UTSW 6 11,941,495 (GRCm39) missense probably damaging 0.97
R1469:Phf14 UTSW 6 11,933,726 (GRCm39) missense possibly damaging 0.66
R1469:Phf14 UTSW 6 11,933,726 (GRCm39) missense possibly damaging 0.66
R1491:Phf14 UTSW 6 11,941,478 (GRCm39) missense possibly damaging 0.80
R1543:Phf14 UTSW 6 11,987,682 (GRCm39) critical splice donor site probably null
R1595:Phf14 UTSW 6 11,988,752 (GRCm39) missense possibly damaging 0.69
R1861:Phf14 UTSW 6 11,987,610 (GRCm39) missense probably benign 0.00
R2289:Phf14 UTSW 6 12,047,845 (GRCm39) missense probably damaging 1.00
R2437:Phf14 UTSW 6 11,962,657 (GRCm39) missense probably damaging 1.00
R3831:Phf14 UTSW 6 11,933,873 (GRCm39) splice site probably null
R3832:Phf14 UTSW 6 11,933,873 (GRCm39) splice site probably null
R3833:Phf14 UTSW 6 11,933,873 (GRCm39) splice site probably null
R4290:Phf14 UTSW 6 11,987,096 (GRCm39) missense probably damaging 1.00
R4293:Phf14 UTSW 6 11,987,096 (GRCm39) missense probably damaging 1.00
R4294:Phf14 UTSW 6 11,987,096 (GRCm39) missense probably damaging 1.00
R4572:Phf14 UTSW 6 12,006,823 (GRCm39) missense probably damaging 1.00
R4663:Phf14 UTSW 6 11,953,421 (GRCm39) missense possibly damaging 0.92
R4673:Phf14 UTSW 6 11,992,056 (GRCm39) missense probably damaging 1.00
R4882:Phf14 UTSW 6 11,988,756 (GRCm39) missense possibly damaging 0.88
R4954:Phf14 UTSW 6 11,987,619 (GRCm39) missense probably benign 0.09
R5148:Phf14 UTSW 6 11,961,641 (GRCm39) missense possibly damaging 0.72
R5284:Phf14 UTSW 6 11,997,119 (GRCm39) missense probably damaging 0.99
R5569:Phf14 UTSW 6 11,934,015 (GRCm39) missense probably damaging 0.99
R5694:Phf14 UTSW 6 11,990,124 (GRCm39) missense possibly damaging 0.68
R5726:Phf14 UTSW 6 11,933,537 (GRCm39) intron probably benign
R5730:Phf14 UTSW 6 11,953,319 (GRCm39) missense possibly damaging 0.54
R5819:Phf14 UTSW 6 11,997,251 (GRCm39) splice site probably null
R5915:Phf14 UTSW 6 11,933,726 (GRCm39) missense possibly damaging 0.66
R6578:Phf14 UTSW 6 11,991,996 (GRCm39) missense probably damaging 1.00
R6950:Phf14 UTSW 6 12,006,854 (GRCm39) missense probably damaging 1.00
R7181:Phf14 UTSW 6 11,933,340 (GRCm39) missense unknown
R7352:Phf14 UTSW 6 11,961,637 (GRCm39) missense probably damaging 1.00
R7355:Phf14 UTSW 6 12,081,006 (GRCm39) missense probably benign 0.01
R7947:Phf14 UTSW 6 11,933,306 (GRCm39) missense unknown
R8110:Phf14 UTSW 6 11,953,422 (GRCm39) missense possibly damaging 0.91
R8283:Phf14 UTSW 6 11,987,636 (GRCm39) missense probably benign 0.20
R8301:Phf14 UTSW 6 11,992,061 (GRCm39) missense probably damaging 0.97
R8688:Phf14 UTSW 6 11,990,034 (GRCm39) missense probably damaging 0.98
R9343:Phf14 UTSW 6 11,961,563 (GRCm39) missense probably damaging 1.00
R9402:Phf14 UTSW 6 11,933,779 (GRCm39) missense possibly damaging 0.49
R9434:Phf14 UTSW 6 11,933,492 (GRCm39) missense unknown
X0025:Phf14 UTSW 6 11,926,812 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCAACTCCAGAAATGGATTG -3'
(R):5'- GTCATTAGCAACTTATTCTCAGGG -3'

Sequencing Primer
(F):5'- GCAACTCCAGAAATGGATTGTATATC -3'
(R):5'- GCAACTTATTCTCAGGGAGATTG -3'
Posted On 2015-06-20