Incidental Mutation 'R5569:Phf14'
| ID |
435524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf14
|
| Ensembl Gene |
ENSMUSG00000029629 |
| Gene Name |
PHD finger protein 14 |
| Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
| MMRRC Submission |
043126-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5569 (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 11934015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 292
(N292K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090632]
[ENSMUST00000115510]
[ENSMUST00000115511]
[ENSMUST00000155037]
[ENSMUST00000203459]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090632
AA Change: N292K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: N292K
| 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: N292K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: N292K
| 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 benign
Transcript: ENSMUST00000115511
AA Change: N292K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: N292K
| 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 |
probably benign
Transcript: ENSMUST00000155037
|
| SMART Domains |
Protein: ENSMUSP00000144981
Gene: ENSMUSG00000029629
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
|
coiled coil region
|
61 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203459
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
| Ackr3 |
A |
G |
1: 90,142,563 (GRCm39) |
T341A |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,760,377 (GRCm39) |
Y431C |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,992,845 (GRCm39) |
V653M |
probably damaging |
Het |
| Anks6 |
T |
C |
4: 47,045,007 (GRCm39) |
K300E |
probably damaging |
Het |
| Ap5z1 |
A |
T |
5: 142,460,206 (GRCm39) |
D495V |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,427,750 (GRCm39) |
Y453* |
probably null |
Het |
| Atpaf2 |
A |
T |
11: 60,307,706 (GRCm39) |
W11R |
probably damaging |
Het |
| Bhmt1b |
A |
C |
18: 87,775,392 (GRCm39) |
Y305S |
probably damaging |
Het |
| Capn1 |
T |
A |
19: 6,063,690 (GRCm39) |
T129S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,939,162 (GRCm39) |
K678N |
possibly damaging |
Het |
| Cdh17 |
A |
G |
4: 11,816,990 (GRCm39) |
I800M |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,724,892 (GRCm39) |
R69Q |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,033,041 (GRCm39) |
Y623H |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,975 (GRCm39) |
Y384N |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,342,838 (GRCm39) |
C555S |
possibly damaging |
Het |
| Dlg2 |
A |
G |
7: 91,617,388 (GRCm39) |
T317A |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,376,628 (GRCm39) |
T1471I |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,883,228 (GRCm39) |
M489V |
possibly damaging |
Het |
| Enpp3 |
T |
C |
10: 24,654,719 (GRCm39) |
D230G |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,506,553 (GRCm39) |
M294T |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,492,873 (GRCm39) |
V3842E |
probably damaging |
Het |
| Fermt1 |
T |
A |
2: 132,757,123 (GRCm39) |
Y569F |
possibly damaging |
Het |
| Fscn1 |
A |
G |
5: 142,946,799 (GRCm39) |
D199G |
probably benign |
Het |
| Glce |
A |
G |
9: 61,977,485 (GRCm39) |
V133A |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,122,220 (GRCm39) |
S520P |
probably benign |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,555 (GRCm39) |
V7A |
probably benign |
Het |
| Ighv6-7 |
C |
A |
12: 114,419,476 (GRCm39) |
A43S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,568,113 (GRCm39) |
I222V |
possibly damaging |
Het |
| Kmo |
T |
A |
1: 175,482,688 (GRCm39) |
N337K |
probably benign |
Het |
| Mcf2l |
C |
T |
8: 13,055,481 (GRCm39) |
R611W |
probably damaging |
Het |
| Mipep |
A |
T |
14: 61,040,383 (GRCm39) |
H301L |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,651,789 (GRCm39) |
E1831V |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,759 (GRCm39) |
T56A |
probably benign |
Het |
| Mtmr14 |
G |
A |
6: 113,217,246 (GRCm39) |
V53I |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,372,679 (GRCm39) |
W4056R |
probably damaging |
Het |
| Myl2 |
A |
T |
5: 122,244,783 (GRCm39) |
D151V |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,180,792 (GRCm39) |
D727V |
probably damaging |
Het |
| Or10s1 |
A |
G |
9: 39,985,593 (GRCm39) |
M1V |
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,377,518 (GRCm39) |
I44N |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,690 (GRCm39) |
M1K |
probably null |
Het |
| Or56b1b |
T |
A |
7: 108,164,772 (GRCm39) |
M77L |
probably benign |
Het |
| Or9s18 |
A |
G |
13: 65,300,793 (GRCm39) |
T252A |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,885,474 (GRCm39) |
T409I |
probably benign |
Het |
| Pcgf1 |
C |
T |
6: 83,056,686 (GRCm39) |
R81* |
probably null |
Het |
| Pcgf2 |
A |
G |
11: 97,583,193 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
C |
17: 56,409,147 (GRCm39) |
T1358A |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,164 (GRCm39) |
S423P |
probably damaging |
Het |
| Prep |
G |
A |
10: 44,973,533 (GRCm39) |
V214I |
probably benign |
Het |
| Ptger1 |
T |
C |
8: 84,394,961 (GRCm39) |
|
probably null |
Het |
| Pus7 |
C |
T |
5: 23,953,832 (GRCm39) |
G415D |
probably benign |
Het |
| Rbm44 |
C |
T |
1: 91,096,460 (GRCm39) |
P940S |
probably damaging |
Het |
| Ripor1 |
A |
T |
8: 106,344,147 (GRCm39) |
D427V |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,460 (GRCm39) |
I1884T |
probably damaging |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,624 (GRCm39) |
|
noncoding transcript |
Het |
| Serinc2 |
T |
C |
4: 130,172,272 (GRCm39) |
R7G |
probably benign |
Het |
| Serpina6 |
A |
C |
12: 103,620,719 (GRCm39) |
F10C |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,545,903 (GRCm39) |
|
probably null |
Het |
| Slc66a3 |
T |
A |
12: 17,045,629 (GRCm39) |
I114F |
possibly damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,914,081 (GRCm39) |
I544F |
possibly damaging |
Het |
| Spdye4b |
T |
C |
5: 143,188,176 (GRCm39) |
M223T |
probably benign |
Het |
| Tbc1d17 |
A |
T |
7: 44,497,755 (GRCm39) |
V39D |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,126,770 (GRCm39) |
Y295N |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,657,887 (GRCm39) |
E152K |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,838,419 (GRCm39) |
I1502N |
probably benign |
Het |
| Tmem43 |
T |
A |
6: 91,454,336 (GRCm39) |
M41K |
probably benign |
Het |
| Tmprss6 |
A |
C |
15: 78,324,503 (GRCm39) |
W771G |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,256 (GRCm39) |
T140A |
probably benign |
Het |
| Uchl1 |
A |
G |
5: 66,844,216 (GRCm39) |
E206G |
probably damaging |
Het |
| Vash2 |
A |
G |
1: 190,692,488 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r192 |
C |
A |
13: 22,371,384 (GRCm39) |
A279S |
possibly damaging |
Het |
| Vmn1r32 |
T |
C |
6: 66,530,156 (GRCm39) |
R207G |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,368,261 (GRCm39) |
M244L |
probably benign |
Het |
| Vwa5b2 |
T |
A |
16: 20,414,089 (GRCm39) |
H236Q |
probably damaging |
Het |
| Zfp652 |
C |
T |
11: 95,640,116 (GRCm39) |
P14S |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,466,995 (GRCm39) |
R194* |
probably null |
Het |
| Zgrf1 |
G |
T |
3: 127,354,674 (GRCm39) |
V98L |
probably benign |
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 |
|
|
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 |
|
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'- ATCAGCGTCTCAGAAGGAGG -3'
(R):5'- ACTACAGATCCAGGAGAATGTTG -3'
Sequencing Primer
(F):5'- CGTCTCAGAAGGAGGGCAGTG -3'
(R):5'- TCCAGGAGAATGTTGACAAATAGTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation