Incidental Mutation 'R4698:Phf21a'
ID |
355812 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf21a
|
Ensembl Gene |
ENSMUSG00000058318 |
Gene Name |
PHD finger protein 21A |
Synonyms |
Braf35/HDAC complex (Bhc), 80kDa, Bhc80, PFTF1, D030065N23Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4698 (G1)
|
Quality Score |
189 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
92014096-92195011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92187297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 445
(D445G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044036]
[ENSMUST00000068702]
[ENSMUST00000090586]
[ENSMUST00000111290]
[ENSMUST00000111291]
[ENSMUST00000111292]
[ENSMUST00000111293]
[ENSMUST00000159961]
[ENSMUST00000111297]
[ENSMUST00000111294]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044036
AA Change: D438G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038497 Gene: ENSMUSG00000058318 AA Change: D438G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
129 |
N/A |
INTRINSIC |
low complexity region
|
165 |
186 |
N/A |
INTRINSIC |
AT_hook
|
350 |
362 |
4.28e-1 |
SMART |
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
PHD
|
415 |
458 |
3.12e-15 |
SMART |
RING
|
416 |
457 |
1.85e-1 |
SMART |
coiled coil region
|
482 |
527 |
N/A |
INTRINSIC |
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068702
AA Change: D390G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000070649 Gene: ENSMUSG00000058318 AA Change: D390G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
PHD
|
367 |
410 |
3.12e-15 |
SMART |
RING
|
368 |
409 |
1.85e-1 |
SMART |
coiled coil region
|
434 |
479 |
N/A |
INTRINSIC |
low complexity region
|
527 |
547 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090586
AA Change: D522G
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088074 Gene: ENSMUSG00000058318 AA Change: D522G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
low complexity region
|
249 |
270 |
N/A |
INTRINSIC |
AT_hook
|
434 |
446 |
4.28e-1 |
SMART |
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
PHD
|
499 |
542 |
3.12e-15 |
SMART |
RING
|
500 |
541 |
1.85e-1 |
SMART |
coiled coil region
|
566 |
611 |
N/A |
INTRINSIC |
low complexity region
|
659 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111290
AA Change: D493G
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000106921 Gene: ENSMUSG00000058318 AA Change: D493G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
low complexity region
|
249 |
270 |
N/A |
INTRINSIC |
AT_hook
|
405 |
417 |
4.28e-1 |
SMART |
low complexity region
|
424 |
436 |
N/A |
INTRINSIC |
PHD
|
470 |
513 |
3.12e-15 |
SMART |
RING
|
471 |
512 |
1.85e-1 |
SMART |
coiled coil region
|
537 |
582 |
N/A |
INTRINSIC |
low complexity region
|
630 |
650 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111291
AA Change: D438G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106922 Gene: ENSMUSG00000058318 AA Change: D438G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
129 |
N/A |
INTRINSIC |
low complexity region
|
165 |
186 |
N/A |
INTRINSIC |
AT_hook
|
350 |
362 |
4.28e-1 |
SMART |
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
PHD
|
415 |
458 |
3.12e-15 |
SMART |
RING
|
416 |
457 |
1.85e-1 |
SMART |
coiled coil region
|
482 |
527 |
N/A |
INTRINSIC |
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111292
AA Change: D390G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000106923 Gene: ENSMUSG00000058318 AA Change: D390G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
PHD
|
367 |
410 |
3.12e-15 |
SMART |
RING
|
368 |
409 |
1.85e-1 |
SMART |
coiled coil region
|
434 |
479 |
N/A |
INTRINSIC |
low complexity region
|
527 |
547 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111293
AA Change: D522G
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106924 Gene: ENSMUSG00000058318 AA Change: D522G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
low complexity region
|
249 |
270 |
N/A |
INTRINSIC |
AT_hook
|
434 |
446 |
4.28e-1 |
SMART |
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
PHD
|
499 |
542 |
3.12e-15 |
SMART |
RING
|
500 |
541 |
1.85e-1 |
SMART |
coiled coil region
|
566 |
611 |
N/A |
INTRINSIC |
low complexity region
|
659 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159961
AA Change: D409G
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123955 Gene: ENSMUSG00000058318 AA Change: D409G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
low complexity region
|
57 |
100 |
N/A |
INTRINSIC |
low complexity region
|
136 |
157 |
N/A |
INTRINSIC |
AT_hook
|
321 |
333 |
4.28e-1 |
SMART |
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
PHD
|
386 |
429 |
3.12e-15 |
SMART |
RING
|
387 |
428 |
1.85e-1 |
SMART |
coiled coil region
|
453 |
498 |
N/A |
INTRINSIC |
low complexity region
|
546 |
566 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111297
AA Change: D445G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106928 Gene: ENSMUSG00000058318 AA Change: D445G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
129 |
N/A |
INTRINSIC |
low complexity region
|
248 |
269 |
N/A |
INTRINSIC |
PHD
|
422 |
465 |
3.12e-15 |
SMART |
RING
|
423 |
464 |
1.85e-1 |
SMART |
coiled coil region
|
489 |
534 |
N/A |
INTRINSIC |
low complexity region
|
582 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111294
AA Change: D475G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106925 Gene: ENSMUSG00000058318 AA Change: D475G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
62 |
N/A |
INTRINSIC |
low complexity region
|
85 |
128 |
N/A |
INTRINSIC |
low complexity region
|
249 |
270 |
N/A |
INTRINSIC |
PHD
|
452 |
495 |
3.12e-15 |
SMART |
RING
|
453 |
494 |
1.85e-1 |
SMART |
coiled coil region
|
519 |
564 |
N/A |
INTRINSIC |
low complexity region
|
612 |
632 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161067
AA Change: D162G
|
SMART Domains |
Protein: ENSMUSP00000124255 Gene: ENSMUSG00000058318 AA Change: D162G
Domain | Start | End | E-Value | Type |
PHD
|
140 |
183 |
3.12e-15 |
SMART |
RING
|
141 |
182 |
1.85e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and insufficient milk-sucking behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
Celf3 |
T |
A |
3: 94,392,174 (GRCm39) |
|
probably null |
Het |
Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
Kif20b |
A |
T |
19: 34,928,944 (GRCm39) |
D1190V |
probably damaging |
Het |
Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
Pprc1 |
T |
C |
19: 46,057,634 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
Rrp12 |
T |
C |
19: 41,861,481 (GRCm39) |
E942G |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
Srgap1 |
C |
A |
10: 121,628,392 (GRCm39) |
R837L |
probably benign |
Het |
Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
Tyro3 |
A |
T |
2: 119,633,751 (GRCm39) |
D133V |
probably damaging |
Het |
Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
probably damaging |
Het |
|
Other mutations in Phf21a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Phf21a
|
APN |
2 |
92,178,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00826:Phf21a
|
APN |
2 |
92,174,881 (GRCm39) |
splice site |
probably benign |
|
IGL01859:Phf21a
|
APN |
2 |
92,158,701 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02124:Phf21a
|
APN |
2 |
92,179,767 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Phf21a
|
APN |
2 |
92,190,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Phf21a
|
APN |
2 |
92,150,611 (GRCm39) |
missense |
probably damaging |
0.99 |
R0308:Phf21a
|
UTSW |
2 |
92,161,122 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1251:Phf21a
|
UTSW |
2 |
92,189,544 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Phf21a
|
UTSW |
2 |
92,190,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1775:Phf21a
|
UTSW |
2 |
92,160,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Phf21a
|
UTSW |
2 |
92,058,828 (GRCm39) |
critical splice donor site |
probably null |
|
R2064:Phf21a
|
UTSW |
2 |
92,157,422 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2073:Phf21a
|
UTSW |
2 |
92,178,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Phf21a
|
UTSW |
2 |
92,187,346 (GRCm39) |
nonsense |
probably null |
|
R5055:Phf21a
|
UTSW |
2 |
92,182,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Phf21a
|
UTSW |
2 |
92,058,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R5401:Phf21a
|
UTSW |
2 |
92,182,097 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5770:Phf21a
|
UTSW |
2 |
92,182,199 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5969:Phf21a
|
UTSW |
2 |
92,051,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R6008:Phf21a
|
UTSW |
2 |
92,182,097 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6012:Phf21a
|
UTSW |
2 |
92,182,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R6128:Phf21a
|
UTSW |
2 |
92,181,953 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6354:Phf21a
|
UTSW |
2 |
92,179,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R7075:Phf21a
|
UTSW |
2 |
92,190,724 (GRCm39) |
nonsense |
probably null |
|
R7117:Phf21a
|
UTSW |
2 |
92,189,502 (GRCm39) |
missense |
probably benign |
0.25 |
R7270:Phf21a
|
UTSW |
2 |
92,157,484 (GRCm39) |
missense |
probably damaging |
0.98 |
R7603:Phf21a
|
UTSW |
2 |
92,187,352 (GRCm39) |
missense |
probably benign |
0.08 |
R7708:Phf21a
|
UTSW |
2 |
92,157,511 (GRCm39) |
critical splice donor site |
probably null |
|
R7946:Phf21a
|
UTSW |
2 |
92,189,512 (GRCm39) |
missense |
probably damaging |
0.99 |
R9788:Phf21a
|
UTSW |
2 |
92,181,978 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Phf21a
|
UTSW |
2 |
92,061,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAATTGGAGGCCCATCTCTGAG -3'
(R):5'- TTCATGAACCAGGAGGAGAACC -3'
Sequencing Primer
(F):5'- AGGCCCATCTCTGAGCCATC -3'
(R):5'- CATGAACCAGGAGGAGAACCAAGAG -3'
|
Posted On |
2015-10-21 |