Incidental Mutation 'R8301:Phf14'
ID 639253
Institutional Source Beutler Lab
Gene Symbol Phf14
Ensembl Gene ENSMUSG00000029629
Gene Name PHD finger protein 14
Synonyms 1110001C23Rik, 4932409F11Rik, 5730446A07Rik
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 11907808-12081204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 11992061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 746 (G746R)
Ref Sequence ENSEMBL: ENSMUSP00000111172 (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: G746R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: G746R

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: G746R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: G746R

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 possibly damaging
Transcript: ENSMUST00000115511
AA Change: G746R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: G746R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,120,364 (GRCm39) I374F probably benign Het
Ak9 G A 10: 41,300,712 (GRCm39) V1108I Het
Aldh16a1 C T 7: 44,791,406 (GRCm39) A790T possibly damaging Het
Anks1 A T 17: 28,278,554 (GRCm39) probably benign Het
Antxr2 T G 5: 98,125,538 (GRCm39) T240P probably benign Het
Arfgef1 A T 1: 10,250,058 (GRCm39) M945K probably damaging Het
Arhgef17 T C 7: 100,528,866 (GRCm39) T1591A probably benign Het
Aurka A G 2: 172,198,850 (GRCm39) S374P probably damaging Het
Bccip T C 7: 133,320,933 (GRCm39) S236P probably benign Het
Cacna1s T A 1: 136,001,179 (GRCm39) probably benign Het
Calm1 A G 12: 100,171,944 (GRCm39) E132G probably benign Het
Casz1 A G 4: 149,030,500 (GRCm39) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm39) D413G probably damaging Het
Cfap57 A G 4: 118,450,271 (GRCm39) I617T possibly damaging Het
Creb5 A G 6: 53,658,018 (GRCm39) D116G possibly damaging Het
Csnka2ip A C 16: 64,299,354 (GRCm39) S337A unknown Het
Ddx60 A G 8: 62,453,631 (GRCm39) E1250G probably benign Het
Dlgap2 T A 8: 14,873,577 (GRCm39) S727T probably benign Het
Dpy19l1 T C 9: 24,396,407 (GRCm39) probably benign Het
Ebf2 A G 14: 67,476,431 (GRCm39) T134A possibly damaging Het
Echdc2 A T 4: 108,030,106 (GRCm39) M136L probably benign Het
Enpp2 A G 15: 54,714,803 (GRCm39) F598S probably benign Het
Extl3 A C 14: 65,313,733 (GRCm39) L483R probably damaging Het
Gcat T C 15: 78,920,089 (GRCm39) V227A possibly damaging Het
Hsf2 A G 10: 57,381,442 (GRCm39) D344G probably damaging Het
Ighm C T 12: 113,385,165 (GRCm39) G265D Het
Igsf9b T G 9: 27,246,035 (GRCm39) probably benign Het
Ints6 A G 14: 62,939,902 (GRCm39) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm39) E182G probably damaging Het
Iqgap2 A G 13: 95,818,659 (GRCm39) probably null Het
Kalrn G T 16: 34,177,470 (GRCm39) Q250K probably benign Het
Lrrc1 T A 9: 77,451,770 (GRCm39) N46Y probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa50 A G 16: 43,977,494 (GRCm39) N74S probably benign Het
Neb T C 2: 52,178,847 (GRCm39) N1303S probably benign Het
Nfs1 A T 2: 155,976,413 (GRCm39) C160* probably null Het
Or11g7 T A 14: 50,691,021 (GRCm39) S171T probably benign Het
Or52s1b T G 7: 102,822,280 (GRCm39) K188T probably damaging Het
Or5p52 A G 7: 107,502,833 (GRCm39) K303R probably benign Het
Or6c76 T C 10: 129,612,709 (GRCm39) S309P probably benign Het
Orm2 T C 4: 63,281,263 (GRCm39) F67S possibly damaging Het
Pex5 A G 6: 124,382,142 (GRCm39) S180P probably benign Het
Pkm T A 9: 59,575,914 (GRCm39) V110E probably damaging Het
Plekha6 T G 1: 133,192,425 (GRCm39) N78K probably damaging Het
Plxna2 G A 1: 194,472,483 (GRCm39) V1076I probably benign Het
Polq C A 16: 36,882,181 (GRCm39) D1448E probably damaging Het
Pot1b T C 17: 55,994,895 (GRCm39) T256A probably benign Het
Prkch C T 12: 73,749,538 (GRCm39) T377I possibly damaging Het
Prl3c1 A C 13: 27,383,168 (GRCm39) probably benign Het
Prl7b1 A C 13: 27,786,755 (GRCm39) V158G possibly damaging Het
Prss22 T C 17: 24,212,955 (GRCm39) S261G probably damaging Het
Psd T C 19: 46,309,541 (GRCm39) probably benign Het
Psg18 A T 7: 18,087,302 (GRCm39) Y119N probably damaging Het
Rbm6 T G 9: 107,729,993 (GRCm39) R218S probably damaging Het
Rnf213 T A 11: 119,325,568 (GRCm39) S1491T Het
Rsf1 T C 7: 97,311,132 (GRCm39) S621P Het
Runx1 C A 16: 92,402,544 (GRCm39) *466L probably null Het
Samd4 A G 14: 47,254,135 (GRCm39) I200V probably benign Het
Sdsl C T 5: 120,597,584 (GRCm39) C241Y probably benign Het
Selenon T C 4: 134,278,725 (GRCm39) probably benign Het
Setx C T 2: 29,035,702 (GRCm39) P729L possibly damaging Het
Sf1 C T 19: 6,418,396 (GRCm39) Q55* probably null Het
Slc12a5 A T 2: 164,835,611 (GRCm39) N833I probably damaging Het
Slc1a4 T C 11: 20,282,286 (GRCm39) R63G probably damaging Het
Tmeff2 G T 1: 51,220,996 (GRCm39) A324S probably benign Het
Tmem217 A G 17: 29,745,466 (GRCm39) I88T possibly damaging Het
Tnfsf8 A T 4: 63,779,115 (GRCm39) I61N probably benign Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trhde T A 10: 114,322,911 (GRCm39) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm39) T1598A probably benign Het
Vmn2r73 A T 7: 85,507,510 (GRCm39) C601S probably benign Het
Zfp873 C A 10: 81,896,713 (GRCm39) H481Q 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
R4295: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
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'- ATGATGGGTGCCATTAAAAGC -3'
(R):5'- AGCACAGAAAGCTCTTGTACCTTATG -3'

Sequencing Primer
(F):5'- CAAGGCTGGTTTGGTCCATAAAGC -3'
(R):5'- ACAGGGTTGTACTGTTGAG -3'
Posted On 2020-07-28