Incidental Mutation 'R4290:Phf14'
ID |
322998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf14
|
Ensembl Gene |
ENSMUSG00000029629 |
Gene Name |
PHD finger protein 14 |
Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
MMRRC Submission |
041655-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4290 (G1)
|
Quality Score |
225 |
Status
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (73/73) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,539,738 (GRCm39) |
N1545S |
probably benign |
Het |
Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,503,809 (GRCm39) |
S225P |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Cfap221 |
A |
G |
1: 119,858,650 (GRCm39) |
S728P |
probably benign |
Het |
Chrna9 |
A |
G |
5: 66,134,481 (GRCm39) |
K444R |
probably benign |
Het |
Cox10 |
A |
T |
11: 63,855,081 (GRCm39) |
V400E |
probably benign |
Het |
Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
Ddr2 |
A |
G |
1: 169,818,178 (GRCm39) |
V443A |
probably benign |
Het |
Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
En1 |
C |
A |
1: 120,531,486 (GRCm39) |
A242E |
unknown |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
Hepacam2 |
T |
A |
6: 3,487,237 (GRCm39) |
Y40F |
probably benign |
Het |
Ift80 |
A |
G |
3: 68,871,023 (GRCm39) |
I191T |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,862,750 (GRCm39) |
T58S |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,002,709 (GRCm39) |
R594C |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,260,684 (GRCm39) |
|
probably null |
Het |
Kcna1 |
T |
C |
6: 126,618,838 (GRCm39) |
D494G |
probably damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,281,261 (GRCm39) |
|
probably null |
Het |
Kmt5b |
T |
C |
19: 3,852,193 (GRCm39) |
Y125H |
possibly damaging |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
Man1c1 |
T |
A |
4: 134,291,096 (GRCm39) |
D600V |
probably damaging |
Het |
Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
Mettl5 |
T |
C |
2: 69,711,176 (GRCm39) |
N114S |
probably benign |
Het |
Mindy2 |
T |
A |
9: 70,538,376 (GRCm39) |
R320W |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,088,876 (GRCm39) |
S894P |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,114,633 (GRCm39) |
H1736L |
probably benign |
Het |
Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
Or2aj4 |
A |
T |
16: 19,384,994 (GRCm39) |
M213K |
possibly damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Or2z9 |
A |
G |
8: 72,853,612 (GRCm39) |
T3A |
probably benign |
Het |
Or4e1 |
T |
C |
14: 52,701,442 (GRCm39) |
N8S |
probably damaging |
Het |
Or6b6 |
A |
C |
7: 106,570,918 (GRCm39) |
L211R |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
Ppp4c |
A |
G |
7: 126,391,231 (GRCm39) |
|
probably null |
Het |
Rps15a-ps1 |
A |
G |
10: 106,028,496 (GRCm39) |
|
noncoding transcript |
Het |
Rps27a |
A |
G |
11: 29,495,933 (GRCm39) |
Y140H |
probably benign |
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 |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
Ttc19 |
A |
G |
11: 62,176,753 (GRCm39) |
|
probably null |
Het |
Ttf2 |
T |
C |
3: 100,870,077 (GRCm39) |
D332G |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,873,605 (GRCm39) |
V83A |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
Zfa-ps |
A |
T |
10: 52,419,807 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Phf14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TTGCAACTCCAGAAATGGATTG -3'
(R):5'- TAGCAACTTATTCTCAGGGAGATTG -3'
Sequencing Primer
(F):5'- GCAACTCCAGAAATGGATTGTATATC -3'
(R):5'- CTCAGGGAGATTGTGTATGTATCAG -3'
|
Posted On |
2015-06-20 |