Incidental Mutation 'R5730:Phf14'
| ID |
452711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf14
|
| Ensembl Gene |
ENSMUSG00000029629 |
| Gene Name |
PHD finger protein 14 |
| Synonyms |
1110001C23Rik, 4932409F11Rik, 5730446A07Rik |
| MMRRC Submission |
043191-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11953319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 353
(I353F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111173
(fasta)
|
| 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: I353F
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: I353F
| 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: I353F
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: I353F
| 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: I353F
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: I353F
| 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 |
unknown
Transcript: ENSMUST00000133776
AA Change: I78F
|
| SMART Domains |
Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629
AA Change: I78F
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| 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 |
|---|
| Ahnak |
T |
C |
19: 8,987,617 (GRCm39) |
V2967A |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,856,633 (GRCm39) |
I858K |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,466,498 (GRCm39) |
T466A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,470 (GRCm39) |
S3162T |
possibly damaging |
Het |
| Brd1 |
T |
G |
15: 88,601,248 (GRCm39) |
N462T |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,491,636 (GRCm39) |
R235H |
probably benign |
Het |
| Cd80 |
T |
C |
16: 38,303,097 (GRCm39) |
|
probably null |
Het |
| Clip4 |
A |
G |
17: 72,117,954 (GRCm39) |
Y333C |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,801,310 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,235,206 (GRCm39) |
Q1206* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,095 (GRCm39) |
I63T |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,036,829 (GRCm39) |
Y119H |
unknown |
Het |
| Dst |
T |
G |
1: 34,156,607 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
G |
8: 26,063,827 (GRCm39) |
T785A |
probably damaging |
Het |
| Gm1553 |
A |
G |
10: 82,323,945 (GRCm39) |
F94S |
unknown |
Het |
| Gpbar1 |
A |
G |
1: 74,318,195 (GRCm39) |
N146S |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 116,025,726 (GRCm39) |
T588A |
possibly damaging |
Het |
| Gramd2a |
A |
G |
9: 59,618,489 (GRCm39) |
H9R |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,424,199 (GRCm39) |
S6N |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,419,703 (GRCm39) |
S969P |
probably benign |
Het |
| Lyz2 |
G |
T |
10: 117,114,587 (GRCm39) |
A114E |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,988,454 (GRCm39) |
D1193G |
probably damaging |
Het |
| Mrpl39 |
C |
T |
16: 84,529,322 (GRCm39) |
G107R |
probably damaging |
Het |
| Mthfd2 |
C |
T |
6: 83,294,441 (GRCm39) |
R24H |
probably benign |
Het |
| Or2q1 |
C |
T |
6: 42,795,094 (GRCm39) |
R230* |
probably null |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,392,606 (GRCm39) |
C246R |
probably damaging |
Het |
| Ppp2r5a |
C |
T |
1: 191,104,732 (GRCm39) |
V105I |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,950,947 (GRCm39) |
T1949A |
probably damaging |
Het |
| Prss48 |
T |
G |
3: 85,904,563 (GRCm39) |
M212L |
possibly damaging |
Het |
| Pstk |
A |
T |
7: 130,975,503 (GRCm39) |
D152V |
probably damaging |
Het |
| Scn2a |
C |
A |
2: 65,512,882 (GRCm39) |
S214* |
probably null |
Het |
| Scn3a |
T |
G |
2: 65,325,604 (GRCm39) |
N971T |
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,927,713 (GRCm39) |
I250V |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,907,768 (GRCm39) |
D516G |
probably benign |
Het |
| Tcea3 |
T |
C |
4: 135,992,204 (GRCm39) |
V209A |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,715,892 (GRCm39) |
S885G |
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,960,966 (GRCm39) |
D188G |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,562 (GRCm39) |
I415V |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,154 (GRCm39) |
M1580K |
probably benign |
Het |
| Vmn1r120 |
A |
T |
7: 20,786,934 (GRCm39) |
I259N |
possibly damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,522 (GRCm39) |
T7I |
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 |
|
|
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'- CTTGAATTGCATAGGGCTAACAAC -3'
(R):5'- TCATGAAGCAGGCATATGGAC -3'
Sequencing Primer
(F):5'- TGCATAGGGCTAACAACTTTTG -3'
(R):5'- CAGGCATATGGACACAACATAATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation