Incidental Mutation 'R4901:Phf21a'
ID |
376139 |
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 # |
R4901 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
92014096-92195011 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 92187346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 178
(C178*)
|
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 |
probably null
Transcript: ENSMUST00000044036
AA Change: C454*
|
SMART Domains |
Protein: ENSMUSP00000038497 Gene: ENSMUSG00000058318 AA Change: C454*
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 null
Transcript: ENSMUST00000068702
AA Change: C406*
|
SMART Domains |
Protein: ENSMUSP00000070649 Gene: ENSMUSG00000058318 AA Change: C406*
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 null
Transcript: ENSMUST00000090586
AA Change: C538*
|
SMART Domains |
Protein: ENSMUSP00000088074 Gene: ENSMUSG00000058318 AA Change: C538*
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 null
Transcript: ENSMUST00000111290
AA Change: C509*
|
SMART Domains |
Protein: ENSMUSP00000106921 Gene: ENSMUSG00000058318 AA Change: C509*
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 |
probably null
Transcript: ENSMUST00000111291
AA Change: C454*
|
SMART Domains |
Protein: ENSMUSP00000106922 Gene: ENSMUSG00000058318 AA Change: C454*
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 null
Transcript: ENSMUST00000111292
AA Change: C406*
|
SMART Domains |
Protein: ENSMUSP00000106923 Gene: ENSMUSG00000058318 AA Change: C406*
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 null
Transcript: ENSMUST00000161067
AA Change: C178*
|
SMART Domains |
Protein: ENSMUSP00000124255 Gene: ENSMUSG00000058318 AA Change: C178*
Domain | Start | End | E-Value | Type |
PHD
|
140 |
183 |
3.12e-15 |
SMART |
RING
|
141 |
182 |
1.85e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111293
AA Change: C538*
|
SMART Domains |
Protein: ENSMUSP00000106924 Gene: ENSMUSG00000058318 AA Change: C538*
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 null
Transcript: ENSMUST00000159961
AA Change: C425*
|
SMART Domains |
Protein: ENSMUSP00000123955 Gene: ENSMUSG00000058318 AA Change: C425*
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 null
Transcript: ENSMUST00000111297
AA Change: C461*
|
SMART Domains |
Protein: ENSMUSP00000106928 Gene: ENSMUSG00000058318 AA Change: C461*
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 null
Transcript: ENSMUST00000111294
AA Change: C491*
|
SMART Domains |
Protein: ENSMUSP00000106925 Gene: ENSMUSG00000058318 AA Change: C491*
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 |
noncoding transcript
Transcript: ENSMUST00000161044
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.6%
|
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 |
Abcg4 |
C |
T |
9: 44,188,954 (GRCm39) |
|
probably null |
Het |
Arg2 |
T |
C |
12: 79,194,485 (GRCm39) |
V103A |
probably damaging |
Het |
Bicra |
T |
A |
7: 15,721,526 (GRCm39) |
T664S |
possibly damaging |
Het |
Bptf |
A |
T |
11: 107,001,686 (GRCm39) |
Y475* |
probably null |
Het |
Calcrl |
T |
C |
2: 84,163,857 (GRCm39) |
I445V |
probably benign |
Het |
Ccdc110 |
G |
A |
8: 46,396,437 (GRCm39) |
R776Q |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,727,894 (GRCm39) |
N4S |
probably damaging |
Het |
Ccni |
G |
A |
5: 93,331,003 (GRCm39) |
R323W |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,314,303 (GRCm39) |
M1241L |
possibly damaging |
Het |
Cpd |
T |
C |
11: 76,681,707 (GRCm39) |
I1145M |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,367,323 (GRCm39) |
D265V |
probably benign |
Het |
Dennd2a |
T |
C |
6: 39,499,621 (GRCm39) |
T315A |
probably benign |
Het |
Dgkz |
T |
A |
2: 91,767,076 (GRCm39) |
Q905L |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,059,688 (GRCm39) |
|
probably null |
Het |
Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
Gm136 |
G |
A |
4: 34,746,580 (GRCm39) |
Q144* |
probably null |
Het |
Gon4l |
T |
C |
3: 88,815,458 (GRCm39) |
V2008A |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Isyna1 |
A |
T |
8: 71,049,246 (GRCm39) |
H414L |
probably damaging |
Het |
Kif20b |
A |
G |
19: 34,911,836 (GRCm39) |
Y233C |
probably benign |
Het |
Klk1 |
A |
T |
7: 43,878,139 (GRCm39) |
I132F |
probably damaging |
Het |
Klre1 |
A |
T |
6: 129,561,188 (GRCm39) |
H183L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,711,657 (GRCm39) |
T3188A |
probably damaging |
Het |
Mapk12 |
A |
T |
15: 89,018,841 (GRCm39) |
L198* |
probably null |
Het |
Mt4 |
A |
C |
8: 94,864,912 (GRCm39) |
T29P |
possibly damaging |
Het |
Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,314,659 (GRCm39) |
Q269R |
possibly damaging |
Het |
Or4p23 |
C |
G |
2: 88,577,231 (GRCm39) |
|
probably null |
Het |
Or51e1 |
A |
G |
7: 102,359,405 (GRCm39) |
H313R |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,435,112 (GRCm39) |
I421V |
probably null |
Het |
Pde3b |
A |
T |
7: 114,107,425 (GRCm39) |
T519S |
probably damaging |
Het |
Phtf2 |
A |
G |
5: 21,010,722 (GRCm39) |
S88P |
possibly damaging |
Het |
Pik3c3 |
A |
G |
18: 30,435,982 (GRCm39) |
M394V |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,934,027 (GRCm39) |
P752S |
probably benign |
Het |
Pp2d1 |
C |
A |
17: 53,822,037 (GRCm39) |
G343V |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,143,272 (GRCm39) |
I140V |
possibly damaging |
Het |
Ppp6r3 |
C |
A |
19: 3,517,229 (GRCm39) |
V75L |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,524,275 (GRCm39) |
H486L |
probably benign |
Het |
Rasgrf1 |
C |
T |
9: 89,877,056 (GRCm39) |
T807M |
probably benign |
Het |
Rasgrp3 |
C |
A |
17: 75,821,111 (GRCm39) |
Y439* |
probably null |
Het |
Rbm44 |
A |
G |
1: 91,081,050 (GRCm39) |
T413A |
probably benign |
Het |
Rnf135 |
T |
C |
11: 80,089,662 (GRCm39) |
C333R |
probably damaging |
Het |
Scfd2 |
A |
G |
5: 74,680,226 (GRCm39) |
V309A |
probably damaging |
Het |
Semp2l1 |
T |
C |
1: 32,585,701 (GRCm39) |
S70G |
probably benign |
Het |
Serpina3m |
A |
T |
12: 104,355,908 (GRCm39) |
K192* |
probably null |
Het |
Sft2d1rt |
A |
G |
11: 45,942,656 (GRCm39) |
S156P |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,506 (GRCm39) |
I756V |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,702,648 (GRCm39) |
V516A |
probably damaging |
Het |
Sult2a5 |
T |
A |
7: 13,359,188 (GRCm39) |
C55S |
probably benign |
Het |
Tars3 |
C |
T |
7: 65,341,042 (GRCm39) |
T783M |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,172,805 (GRCm39) |
I1819N |
possibly damaging |
Het |
Timeless |
T |
C |
10: 128,086,631 (GRCm39) |
F1057L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,418 (GRCm39) |
I12835F |
probably damaging |
Het |
Uhrf1 |
T |
A |
17: 56,617,834 (GRCm39) |
D185E |
probably benign |
Het |
Vmn2r74 |
G |
T |
7: 85,605,199 (GRCm39) |
S483* |
probably null |
Het |
Xpo1 |
A |
T |
11: 23,231,327 (GRCm39) |
I304F |
possibly damaging |
Het |
Zc3h11a |
A |
G |
1: 133,552,449 (GRCm39) |
S553P |
probably benign |
Het |
Zdhhc1 |
A |
G |
8: 106,199,484 (GRCm39) |
S402P |
probably benign |
Het |
Zwilch |
T |
C |
9: 64,070,028 (GRCm39) |
Y101C |
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 |
R4698:Phf21a
|
UTSW |
2 |
92,187,297 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AATTGGAGGCCCATCTCTGAG -3'
(R):5'- AAAGGTTATGCTGTGTGCCTGC -3'
Sequencing Primer
(F):5'- ACTTATGTGCAGCCACGGTG -3'
(R):5'- CATGCTGTTTCATGAACCAGGAG -3'
|
Posted On |
2016-03-17 |