Incidental Mutation 'R6950:Phf14'
ID |
541208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf14
|
Ensembl Gene |
ENSMUSG00000029629 |
Gene Name |
PHD finger protein 14 |
Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
MMRRC Submission |
045062-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6950 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12006854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 835
(K835N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090632]
[ENSMUST00000115510]
[ENSMUST00000115511]
[ENSMUST00000203045]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090632
AA Change: K835N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000088126 Gene: ENSMUSG00000029629 AA Change: K835N
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: K835N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111172 Gene: ENSMUSG00000029629 AA Change: K835N
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: K835N
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000111173 Gene: ENSMUSG00000029629 AA Change: K835N
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 |
possibly damaging
Transcript: ENSMUST00000203045
AA Change: K12N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145527 Gene: ENSMUSG00000029629 AA Change: K12N
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
98% (59/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,229,480 (GRCm39) |
V404D |
probably damaging |
Het |
Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
Ces5a |
G |
T |
8: 94,257,402 (GRCm39) |
N134K |
probably benign |
Het |
Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,111,343 (GRCm39) |
F173L |
possibly damaging |
Het |
Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,503,663 (GRCm39) |
E1132D |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,657,092 (GRCm39) |
|
probably null |
Het |
Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
Trpc3 |
C |
T |
3: 36,692,739 (GRCm39) |
R751H |
probably damaging |
Het |
Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
possibly 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 |
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'- AAGCGATTGGTGGTAAGACC -3'
(R):5'- GTTCTTAAGTCCTCAGCCTTGG -3'
Sequencing Primer
(F):5'- TATGAAATGCTGAAGAAAGTCTTGG -3'
(R):5'- GCCTTGGGCTTCTTCTGTAACAC -3'
|
Posted On |
2018-11-28 |