Incidental Mutation 'R1066:Phf14'
ID 85996
Institutional Source Beutler Lab
Gene Symbol Phf14
Ensembl Gene ENSMUSG00000029629
Gene Name PHD finger protein 14
Synonyms 1110001C23Rik, 4932409F11Rik, 5730446A07Rik
MMRRC Submission 039152-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1066 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 11907808-12081204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11987254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 611 (D611E)
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 benign
Transcript: ENSMUST00000090632
AA Change: D611E

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: D611E

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: ENSMUST00000115510
AA Change: D611E

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: D611E

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 benign
Transcript: ENSMUST00000115511
AA Change: D611E

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: D611E

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,867,837 (GRCm39) C554S probably damaging Het
Adarb2 T G 13: 8,807,359 (GRCm39) F720C probably benign Het
Arid5b T C 10: 67,934,186 (GRCm39) D572G probably benign Het
BB014433 C T 8: 15,092,185 (GRCm39) V223M probably damaging Het
Boc T C 16: 44,311,047 (GRCm39) probably null Het
Brf2 T C 8: 27,613,974 (GRCm39) E404G probably benign Het
Ces3a T A 8: 105,782,288 (GRCm39) H380Q probably benign Het
Chd9 T A 8: 91,712,764 (GRCm39) Y389* probably null Het
Csmd3 A G 15: 47,777,361 (GRCm39) F1182L probably damaging Het
Dnah2 C A 11: 69,338,645 (GRCm39) W3169L probably damaging Het
Dnah3 T A 7: 119,660,232 (GRCm39) E802D probably damaging Het
Dtx4 G T 19: 12,478,373 (GRCm39) T70K probably damaging Het
Fat4 T C 3: 39,011,376 (GRCm39) Y2159H probably damaging Het
Flrt2 T A 12: 95,745,833 (GRCm39) V57E probably damaging Het
Gsdmc2 T A 15: 63,696,899 (GRCm39) Y424F possibly damaging Het
Igfn1 T C 1: 135,898,463 (GRCm39) E701G probably benign Het
Klhl42 T C 6: 147,009,397 (GRCm39) V412A probably benign Het
Mkln1 A C 6: 31,395,922 (GRCm39) N52T possibly damaging Het
Msantd5f6 C A 4: 73,320,066 (GRCm39) V238L possibly damaging Het
Myo15b A T 11: 115,770,577 (GRCm39) M1519L probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or5b113 T C 19: 13,342,451 (GRCm39) M153T probably benign Het
P4ha3 G T 7: 99,967,270 (GRCm39) V360L possibly damaging Het
Pals2 A T 6: 50,122,847 (GRCm39) N31I possibly damaging Het
Pik3r1 T A 13: 101,825,171 (GRCm39) R465S probably damaging Het
Reep3 G T 10: 66,870,445 (GRCm39) T117K probably damaging Het
Reln G T 5: 22,239,662 (GRCm39) N868K probably damaging Het
Sdcbp T G 4: 6,385,120 (GRCm39) I113S probably damaging Het
Sema4c A T 1: 36,589,281 (GRCm39) V615E possibly damaging Het
Slc25a18 A G 6: 120,765,249 (GRCm39) probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Uba2 A T 7: 33,858,247 (GRCm39) F70I probably damaging Het
Usp42 A T 5: 143,703,796 (GRCm39) H422Q probably damaging Het
Vmn2r86 C T 10: 130,282,145 (GRCm39) V824I probably benign Het
Vps50 A C 6: 3,533,565 (GRCm39) T266P probably damaging Het
Znhit6 T A 3: 145,284,252 (GRCm39) D141E 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
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
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'- TGACAAGTAGTGCTTCGGCTATTCG -3'
(R):5'- GGATGACAACTGTGCCTGGTGTAAG -3'

Sequencing Primer
(F):5'- TATGCGCAAAGCAGAGCT -3'
(R):5'- GTGCATTATTAGCCAACGTACC -3'
Posted On 2013-11-18