Incidental Mutation 'IGL00826:Phf21a'
| ID |
12993 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92014096-92195011 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 92174881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044036]
[ENSMUST00000068702]
[ENSMUST00000090586]
[ENSMUST00000111290]
[ENSMUST00000111291]
[ENSMUST00000111292]
[ENSMUST00000111293]
[ENSMUST00000111294]
[ENSMUST00000111297]
[ENSMUST00000159961]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044036
|
| SMART Domains |
Protein: ENSMUSP00000038497
Gene: ENSMUSG00000058318
| 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
|
| SMART Domains |
Protein: ENSMUSP00000070649
Gene: ENSMUSG00000058318
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088074
Gene: ENSMUSG00000058318
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106921
Gene: ENSMUSG00000058318
| 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 benign
Transcript: ENSMUST00000111291
|
| SMART Domains |
Protein: ENSMUSP00000106922
Gene: ENSMUSG00000058318
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106923
Gene: ENSMUSG00000058318
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106924
Gene: ENSMUSG00000058318
| 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: ENSMUST00000111294
|
| SMART Domains |
Protein: ENSMUSP00000106925
Gene: ENSMUSG00000058318
| 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 |
probably benign
Transcript: ENSMUST00000111297
|
| SMART Domains |
Protein: ENSMUSP00000106928
Gene: ENSMUSG00000058318
| 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 benign
Transcript: ENSMUST00000159961
|
| SMART Domains |
Protein: ENSMUSP00000123955
Gene: ENSMUSG00000058318
| 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 benign
Transcript: ENSMUST00000161067
|
| SMART Domains |
Protein: ENSMUSP00000124255
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
140 |
183 |
3.12e-15 |
SMART |
|
RING
|
141 |
182 |
1.85e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161044
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,766,932 (GRCm39) |
S105A |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,075,041 (GRCm39) |
P136L |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,327,195 (GRCm39) |
N376K |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,246,219 (GRCm39) |
Y192* |
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,727,949 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Cyp2j9 |
A |
T |
4: 96,474,167 (GRCm39) |
I91K |
possibly damaging |
Het |
| Diablo |
T |
C |
5: 123,650,751 (GRCm39) |
I179M |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,768 (GRCm39) |
V2610M |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,372 (GRCm39) |
A696T |
probably damaging |
Het |
| Eaf2 |
A |
T |
16: 36,621,038 (GRCm39) |
M218K |
probably benign |
Het |
| Emc9 |
G |
T |
14: 55,822,377 (GRCm39) |
L64I |
possibly damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,317,620 (GRCm39) |
S46P |
probably benign |
Het |
| Galnt7 |
A |
T |
8: 57,993,105 (GRCm39) |
Y405* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,734,753 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,757 (GRCm39) |
Q1191R |
possibly damaging |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,455,971 (GRCm39) |
V2408A |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,126,884 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
A |
T |
10: 111,108,181 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
G |
T |
11: 77,906,332 (GRCm39) |
R282L |
probably damaging |
Het |
| Plin2 |
T |
C |
4: 86,582,683 (GRCm39) |
N98D |
possibly damaging |
Het |
| Prl7a1 |
A |
G |
13: 27,824,778 (GRCm39) |
V19A |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,085 (GRCm39) |
|
noncoding transcript |
Het |
| Spag11b |
T |
G |
8: 19,191,423 (GRCm39) |
V33G |
possibly damaging |
Het |
| Trappc13 |
A |
T |
13: 104,281,016 (GRCm39) |
S349T |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation