Incidental Mutation 'IGL00497:Phf14'
| ID |
6376 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf14
|
| Ensembl Gene |
ENSMUSG00000029629 |
| Gene Name |
PHD finger protein 14 |
| Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00497
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 11941423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090632]
[ENSMUST00000115510]
[ENSMUST00000115511]
[ENSMUST00000203459]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090632
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
| 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: ENSMUST00000115510
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
| 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: ENSMUST00000203459
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
| Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
| Adcyap1r1 |
G |
A |
6: 55,449,264 (GRCm39) |
V73I |
probably damaging |
Het |
| Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
| Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,934,951 (GRCm39) |
I737L |
probably benign |
Het |
| Gmeb1 |
A |
G |
4: 131,955,296 (GRCm39) |
V293A |
probably benign |
Het |
| Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
| Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
| Mettl17 |
A |
T |
14: 52,126,292 (GRCm39) |
K233N |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
| Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
| Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
| Snw1 |
A |
G |
12: 87,499,350 (GRCm39) |
|
probably null |
Het |
| Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
| Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
| Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
| Zfyve28 |
A |
G |
5: 34,400,539 (GRCm39) |
V53A |
probably damaging |
Het |
|
| Other mutations in Phf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation