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)
|
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
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: G746R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000111172 Gene: ENSMUSG00000029629 AA Change: G746R
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: G746R
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111173 Gene: ENSMUSG00000029629 AA Change: G746R
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |