Incidental Mutation 'R4663:Phf14'
| ID |
352998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf14
|
| Ensembl Gene |
ENSMUSG00000029629 |
| Gene Name |
PHD finger protein 14 |
| Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
| MMRRC Submission |
041921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11953421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 387
(I387V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090632]
[ENSMUST00000115510]
[ENSMUST00000115511]
[ENSMUST00000203459]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090632
AA Change: I387V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: I387V
| 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 |
possibly damaging
Transcript: ENSMUST00000115510
AA Change: I387V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: I387V
| 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 |
possibly damaging
Transcript: ENSMUST00000115511
AA Change: I387V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: I387V
| 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 |
unknown
Transcript: ENSMUST00000133776
AA Change: I112V
|
| SMART Domains |
Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629
AA Change: I112V
| 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: ENSMUST00000203459
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqr |
A |
T |
2: 113,992,147 (GRCm39) |
Y76* |
probably null |
Het |
| Armc5 |
C |
A |
7: 127,837,717 (GRCm39) |
A140E |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,468,476 (GRCm39) |
H947R |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,786,074 (GRCm39) |
T83A |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
A |
G |
8: 104,937,799 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,129,697 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,332 (GRCm39) |
I45V |
probably benign |
Het |
| Cd320 |
G |
A |
17: 34,067,152 (GRCm39) |
G214R |
probably null |
Het |
| Ckm |
G |
A |
7: 19,153,419 (GRCm39) |
V237M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,247,939 (GRCm39) |
V1496A |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,793,960 (GRCm39) |
V565A |
possibly damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,853 (GRCm39) |
V338A |
probably benign |
Het |
| Eddm13 |
T |
G |
7: 6,261,624 (GRCm39) |
I35S |
possibly damaging |
Het |
| Ephb6 |
A |
G |
6: 41,594,799 (GRCm39) |
Y638C |
probably damaging |
Het |
| Fat2 |
G |
C |
11: 55,187,039 (GRCm39) |
S1269* |
probably null |
Het |
| Fbxo3 |
T |
C |
2: 103,883,820 (GRCm39) |
V348A |
probably damaging |
Het |
| Gas6 |
G |
A |
8: 13,520,254 (GRCm39) |
P478L |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,340,660 (GRCm39) |
S1670P |
probably damaging |
Het |
| Hnrnpk |
C |
A |
13: 58,542,331 (GRCm39) |
R281L |
probably damaging |
Het |
| Ifih1 |
C |
A |
2: 62,439,563 (GRCm39) |
C488F |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,441,559 (GRCm39) |
K192E |
probably benign |
Het |
| Ighv5-9 |
T |
A |
12: 113,625,440 (GRCm39) |
Q101L |
probably benign |
Het |
| Igkv3-2 |
G |
T |
6: 70,675,863 (GRCm39) |
M57I |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,877 (GRCm39) |
Y409* |
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,213,715 (GRCm39) |
Y237C |
unknown |
Het |
| Lats1 |
G |
A |
10: 7,588,347 (GRCm39) |
C988Y |
probably damaging |
Het |
| Lgals3 |
T |
A |
14: 47,619,079 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
G |
T |
14: 15,358,220 (GRCm38) |
H129N |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,899,273 (GRCm39) |
H1656R |
possibly damaging |
Het |
| Lypd6 |
T |
G |
2: 50,063,623 (GRCm39) |
Y43* |
probably null |
Het |
| Mettl25b |
A |
G |
3: 87,835,055 (GRCm39) |
S82P |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Msi1 |
G |
A |
5: 115,588,334 (GRCm39) |
R284Q |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,155,066 (GRCm39) |
E947G |
probably damaging |
Het |
| Nat14 |
T |
A |
7: 4,927,446 (GRCm39) |
L206Q |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,856,672 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
A |
T |
14: 50,771,061 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,939 (GRCm39) |
R302G |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,056,145 (GRCm39) |
I250F |
probably damaging |
Het |
| Pdcl |
T |
C |
2: 37,245,778 (GRCm39) |
E75G |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,860,296 (GRCm39) |
R845W |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,726,340 (GRCm39) |
I59T |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,466,631 (GRCm39) |
|
probably null |
Het |
| Psmb2 |
T |
C |
4: 126,571,558 (GRCm39) |
L4P |
probably damaging |
Het |
| Pttg1 |
T |
A |
11: 43,315,677 (GRCm39) |
K46* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,764,395 (GRCm39) |
H1401R |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,429 (GRCm39) |
Y268N |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,030,570 (GRCm39) |
D696N |
probably benign |
Het |
| Slc16a2 |
T |
C |
X: 102,751,585 (GRCm39) |
T274A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,735,106 (GRCm39) |
A335T |
probably damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,590,011 (GRCm39) |
M464V |
probably benign |
Het |
| Slc6a5 |
C |
A |
7: 49,588,146 (GRCm39) |
Y493* |
probably null |
Het |
| Slf1 |
A |
T |
13: 77,274,723 (GRCm39) |
S37R |
probably damaging |
Het |
| Smoc1 |
G |
A |
12: 81,214,376 (GRCm39) |
G264S |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,264,193 (GRCm39) |
E280G |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,488,616 (GRCm39) |
T913M |
probably damaging |
Het |
| Snx7 |
T |
C |
3: 117,594,528 (GRCm39) |
T408A |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,885,339 (GRCm39) |
S264R |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,928,580 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,904,350 (GRCm39) |
L230Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,234,881 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,689,005 (GRCm39) |
R2194L |
probably damaging |
Het |
| Tmed8 |
T |
A |
12: 87,221,005 (GRCm39) |
I194F |
probably damaging |
Het |
| Tmem79 |
T |
A |
3: 88,240,751 (GRCm39) |
T66S |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,216,337 (GRCm39) |
S118T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,569,225 (GRCm39) |
V27223I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,606,839 (GRCm39) |
T18024A |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,940 (GRCm39) |
M164I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,334,901 (GRCm39) |
Y253F |
probably benign |
Het |
| Zfand6 |
C |
T |
7: 84,267,093 (GRCm39) |
R163H |
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 |
|
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'- TGCATAGGGCTAACAACTTTTG -3'
(R):5'- ATCTACATGGCCAAGTCACTC -3'
Sequencing Primer
(F):5'- GCTGTAAGGTGAAAAAGAGTTTTTG -3'
(R):5'- CACTCCTCTATGTCAAGAAGATGGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation