Incidental Mutation 'IGL02735:Phf14'
| ID |
305609 |
| 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 # |
IGL02735
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
11907808-12081204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11987611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 630
(M630T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090632]
[ENSMUST00000115510]
[ENSMUST00000115511]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090632
AA Change: M630T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: M630T
| 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: M630T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: M630T
| 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: M630T
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: M630T
| 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 |
noncoding transcript
Transcript: ENSMUST00000203222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204565
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| Acss1 |
A |
T |
2: 150,480,387 (GRCm39) |
V228E |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,992,693 (GRCm39) |
M145K |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,781,599 (GRCm39) |
S2217N |
probably benign |
Het |
| Asph |
T |
A |
4: 9,598,759 (GRCm39) |
D211V |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,316,413 (GRCm39) |
W379R |
probably damaging |
Het |
| Derl3 |
A |
G |
10: 75,730,950 (GRCm39) |
T201A |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,783,898 (GRCm39) |
L1008P |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,522 (GRCm39) |
I363V |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,961,804 (GRCm39) |
F1058L |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,522,583 (GRCm39) |
M3439K |
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,253,009 (GRCm39) |
|
probably benign |
Het |
| Itgad |
A |
G |
7: 127,792,888 (GRCm39) |
Y832C |
probably damaging |
Het |
| Itgb2 |
T |
A |
10: 77,385,833 (GRCm39) |
D265E |
possibly damaging |
Het |
| Kif19a |
A |
T |
11: 114,676,393 (GRCm39) |
E449V |
probably damaging |
Het |
| Krt40 |
T |
C |
11: 99,429,461 (GRCm39) |
E291G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,980,124 (GRCm39) |
N1897S |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,639,835 (GRCm39) |
Y767C |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 80,786,031 (GRCm39) |
H546R |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,486,266 (GRCm39) |
S362P |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,001,067 (GRCm39) |
Y734C |
probably damaging |
Het |
| Mrps18a |
C |
T |
17: 46,433,725 (GRCm39) |
R74C |
probably damaging |
Het |
| Mvk |
A |
G |
5: 114,588,880 (GRCm39) |
E174G |
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,296,722 (GRCm39) |
S1105P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,624 (GRCm39) |
M468V |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,984,175 (GRCm39) |
E1760G |
probably damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,652,832 (GRCm39) |
G285W |
probably damaging |
Het |
| Pgpep1l |
A |
G |
7: 67,886,721 (GRCm39) |
I196T |
probably benign |
Het |
| Plod2 |
T |
C |
9: 92,477,442 (GRCm39) |
|
probably benign |
Het |
| Poldip2 |
G |
A |
11: 78,403,162 (GRCm39) |
A9T |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,703,396 (GRCm39) |
S718P |
probably damaging |
Het |
| Pramel34 |
G |
A |
5: 93,786,503 (GRCm39) |
P89S |
possibly damaging |
Het |
| Ptpre |
A |
T |
7: 135,269,296 (GRCm39) |
Y246F |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,403 (GRCm39) |
H110R |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,042,403 (GRCm39) |
G646E |
unknown |
Het |
| Sec16a |
T |
A |
2: 26,318,149 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,070,116 (GRCm39) |
T338A |
probably benign |
Het |
| Shisa5 |
T |
G |
9: 108,885,080 (GRCm39) |
F118V |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,936,061 (GRCm39) |
|
probably benign |
Het |
| Sprtn |
T |
A |
8: 125,630,126 (GRCm39) |
V473E |
probably benign |
Het |
| Styxl1 |
A |
G |
5: 135,787,996 (GRCm39) |
I165T |
probably damaging |
Het |
| Tal2 |
T |
A |
4: 53,785,906 (GRCm39) |
I29N |
probably damaging |
Het |
| Tas2r134 |
T |
C |
2: 51,517,839 (GRCm39) |
I106T |
probably damaging |
Het |
| Tmem259 |
G |
A |
10: 79,814,973 (GRCm39) |
T217I |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,655,339 (GRCm39) |
I723T |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,418 (GRCm39) |
V83D |
probably damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,032,510 (GRCm39) |
M761I |
probably benign |
Het |
| Ybey |
A |
T |
10: 76,304,160 (GRCm39) |
I14N |
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 |
|
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 |
2015-04-16 |
Incidental Mutation