Incidental Mutation 'R9402:Phf14'
| ID |
711281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf14
|
| Ensembl Gene |
ENSMUSG00000029629 |
| Gene Name |
PHD finger protein 14 |
| Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11933779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 214
(R214G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000090632
AA Change: R214G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: R214G
| 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: R214G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: R214G
| 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: R214G
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: R214G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,049,154 (GRCm39) |
Q218L |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,614,682 (GRCm39) |
F1083S |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,608,656 (GRCm39) |
N257D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,551 (GRCm39) |
M692L |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,215,865 (GRCm39) |
P1530Q |
unknown |
Het |
| Crim1 |
CCGC |
CC |
17: 78,658,294 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,183 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
G |
12: 72,006,604 (GRCm39) |
T674A |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,759,220 (GRCm39) |
I526L |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,453,078 (GRCm39) |
*523K |
probably null |
Het |
| Fbxl7 |
G |
A |
15: 26,552,589 (GRCm39) |
S226L |
probably damaging |
Het |
| Fbxl9 |
T |
A |
8: 106,049,988 (GRCm39) |
Y12F |
probably benign |
Het |
| Fry |
G |
A |
5: 150,357,161 (GRCm39) |
E1903K |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,360,318 (GRCm39) |
R1988K |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,324,016 (GRCm39) |
M206K |
probably damaging |
Het |
| Gbp10 |
T |
A |
5: 105,381,863 (GRCm39) |
T96S |
possibly damaging |
Het |
| Gm14569 |
G |
A |
X: 35,694,549 (GRCm39) |
P1387S |
probably damaging |
Het |
| Gpaa1 |
A |
G |
15: 76,216,418 (GRCm39) |
T105A |
probably benign |
Het |
| Hoxc13 |
C |
A |
15: 102,830,051 (GRCm39) |
C143* |
probably null |
Het |
| Htt |
T |
C |
5: 35,006,324 (GRCm39) |
I1411T |
probably damaging |
Het |
| Inava |
T |
G |
1: 136,155,348 (GRCm39) |
S86R |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,635,678 (GRCm39) |
C46Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,210 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Lamb3 |
C |
A |
1: 193,013,704 (GRCm39) |
T526K |
|
Het |
| Luzp1 |
T |
A |
4: 136,270,493 (GRCm39) |
H905Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,463 (GRCm39) |
H958Q |
probably benign |
Het |
| Magi1 |
T |
C |
6: 94,260,278 (GRCm39) |
N9S |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,171,119 (GRCm39) |
V231E |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,399,151 (GRCm39) |
M364K |
unknown |
Het |
| Nae1 |
A |
G |
8: 105,254,817 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,718,933 (GRCm39) |
F252S |
|
Het |
| Nlrp9a |
A |
T |
7: 26,270,030 (GRCm39) |
N874I |
possibly damaging |
Het |
| Nodal |
T |
C |
10: 61,259,379 (GRCm39) |
I272T |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,193,123 (GRCm39) |
G217* |
probably null |
Het |
| Or4c12 |
A |
T |
2: 89,774,284 (GRCm39) |
Y58* |
probably null |
Het |
| Or51a24 |
G |
A |
7: 103,733,610 (GRCm39) |
R226* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,988,196 (GRCm39) |
S312P |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,263,369 (GRCm39) |
Q61K |
possibly damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Pcdhb19 |
C |
T |
18: 37,632,532 (GRCm39) |
Q776* |
probably null |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Pigz |
A |
G |
16: 31,764,187 (GRCm39) |
E415G |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 143,998,026 (GRCm39) |
T406A |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,819,253 (GRCm39) |
E1082G |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,031 (GRCm39) |
C445R |
unknown |
Het |
| Scn3b |
A |
T |
9: 40,193,852 (GRCm39) |
E193V |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,456 (GRCm39) |
N1315K |
probably damaging |
Het |
| Snx14 |
C |
T |
9: 88,289,490 (GRCm39) |
G254D |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,705 (GRCm39) |
D560G |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,329 (GRCm39) |
L65* |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,664 (GRCm39) |
I95F |
|
Het |
| Taf3 |
A |
G |
2: 9,955,923 (GRCm39) |
|
probably null |
Het |
| Taok2 |
T |
C |
7: 126,469,400 (GRCm39) |
N1143D |
|
Het |
| Tas2r114 |
C |
T |
6: 131,666,894 (GRCm39) |
G45S |
possibly damaging |
Het |
| Tcerg1l |
T |
C |
7: 137,811,551 (GRCm39) |
K548E |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,141,505 (GRCm39) |
L328Q |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,623 (GRCm39) |
H1096R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,709,652 (GRCm39) |
Y233N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,064 (GRCm39) |
V1303A |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,128,684 (GRCm39) |
F109S |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,693,511 (GRCm39) |
V54A |
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 |
|
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 |
|
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'- TATCTGATAGTGCAGCTGCTTCTG -3'
(R):5'- CAGCACTGTTTCTGCTAAGAAC -3'
Sequencing Primer
(F):5'- CACAAGCCCTCCTGCTG -3'
(R):5'- GCACTGTTTCTGCTAAGAACTTTAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation