Incidental Mutation 'R1187:Phf14'
| ID |
102252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf14
|
| Ensembl Gene |
ENSMUSG00000029629 |
| Gene Name |
PHD finger protein 14 |
| Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
| MMRRC Submission |
039259-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11941495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 41
(C41G)
|
| 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: C316G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: C316G
| 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
AA Change: C316G
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: C316G
| 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: C316G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: C316G
| 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 damaging
Transcript: ENSMUST00000133776
AA Change: C41G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629
AA Change: C41G
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
| Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
| Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
| Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
| Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
| Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
| Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
| Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
| Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,667,447 (GRCm39) |
T331I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
| Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
| Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,385,372 (GRCm39) |
I296F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
| Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
| Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
| Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,314 (GRCm39) |
V775E |
probably damaging |
Het |
| Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,109,416 (GRCm39) |
Y52H |
probably damaging |
Het |
| Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
| Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
| Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
| Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp629 |
A |
G |
7: 127,209,401 (GRCm39) |
S803P |
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,059 (GRCm39) |
K250R |
probably damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCCTTGAACAGTGGTGTAACATTC -3'
(R):5'- ACGATTCTGTGGTCCAGTGCTTGC -3'
Sequencing Primer
(F):5'- CAGTGGTGTAACATTCTTTGAACC -3'
(R):5'- CTTGCGCTCATGTAAAAAGCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation