Incidental Mutation 'IGL01859:Phf21a'
| ID |
178223 |
| 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 # |
IGL01859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92014096-92195011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92158701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 227
(F227L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106921
(fasta)
|
| 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 damaging
Transcript: ENSMUST00000044036
AA Change: F143L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038497
Gene: ENSMUSG00000058318
AA Change: F143L
| 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 damaging
Transcript: ENSMUST00000068702
AA Change: F142L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070649
Gene: ENSMUSG00000058318
AA Change: F142L
| 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 damaging
Transcript: ENSMUST00000090586
AA Change: F227L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088074
Gene: ENSMUSG00000058318
AA Change: F227L
| 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 damaging
Transcript: ENSMUST00000111290
AA Change: F227L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106921
Gene: ENSMUSG00000058318
AA Change: F227L
| 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 damaging
Transcript: ENSMUST00000111291
AA Change: F143L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106922
Gene: ENSMUSG00000058318
AA Change: F143L
| 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 damaging
Transcript: ENSMUST00000111292
AA Change: F142L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106923
Gene: ENSMUSG00000058318
AA Change: F142L
| 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 damaging
Transcript: ENSMUST00000111293
AA Change: F227L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106924
Gene: ENSMUSG00000058318
AA Change: F227L
| 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 damaging
Transcript: ENSMUST00000111294
AA Change: F227L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106925
Gene: ENSMUSG00000058318
AA Change: F227L
| 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 damaging
Transcript: ENSMUST00000111297
AA Change: F226L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106928
Gene: ENSMUSG00000058318
AA Change: F226L
| 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: ENSMUST00000159961
AA Change: F114L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123955
Gene: ENSMUSG00000058318
AA Change: F114L
| 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 |
unknown
Transcript: ENSMUST00000159727
AA Change: F108L
|
| SMART Domains |
Protein: ENSMUSP00000124845
Gene: ENSMUSG00000058318
AA Change: F108L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159366
|
| SMART Domains |
Protein: ENSMUSP00000124238
Gene: ENSMUSG00000058318
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
26 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
127 |
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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,963,336 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,711,556 (GRCm39) |
M398V |
probably null |
Het |
| Angptl3 |
C |
T |
4: 98,925,669 (GRCm39) |
R332* |
probably null |
Het |
| Ano7 |
A |
G |
1: 93,322,168 (GRCm39) |
Y392C |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,060,540 (GRCm39) |
F18L |
probably damaging |
Het |
| Cdc23 |
G |
T |
18: 34,784,459 (GRCm39) |
P73Q |
probably benign |
Het |
| Cdkl1 |
A |
C |
12: 69,806,903 (GRCm39) |
L111R |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,965,655 (GRCm39) |
D822G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,808,160 (GRCm39) |
R963* |
probably null |
Het |
| Crocc |
T |
C |
4: 140,756,601 (GRCm39) |
D1008G |
probably benign |
Het |
| Dntt |
G |
T |
19: 41,025,743 (GRCm39) |
M120I |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,678,890 (GRCm39) |
Y1003C |
possibly damaging |
Het |
| Fam178b |
T |
A |
1: 36,698,446 (GRCm39) |
R92W |
probably damaging |
Het |
| Fermt2 |
A |
G |
14: 45,697,413 (GRCm39) |
V646A |
possibly damaging |
Het |
| Foxc1 |
T |
C |
13: 31,992,706 (GRCm39) |
S506P |
unknown |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,341 (GRCm39) |
V610E |
probably benign |
Het |
| H2-T15 |
A |
T |
17: 36,368,903 (GRCm39) |
M59K |
possibly damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,601,569 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,680 (GRCm39) |
R278S |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,132 (GRCm39) |
D953V |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,174,577 (GRCm39) |
D1749E |
possibly damaging |
Het |
| Mocos |
G |
T |
18: 24,799,717 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,637,616 (GRCm39) |
N47K |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,225,915 (GRCm39) |
E907G |
probably benign |
Het |
| Pla2g4e |
G |
T |
2: 120,013,214 (GRCm39) |
Q369K |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,517 (GRCm39) |
I413T |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,056,726 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,119,899 (GRCm39) |
V452A |
probably benign |
Het |
| Rbms3 |
T |
A |
9: 116,788,606 (GRCm39) |
D105V |
probably damaging |
Het |
| Rnase1 |
C |
A |
14: 51,383,260 (GRCm39) |
Q31H |
probably benign |
Het |
| Rnase13 |
G |
T |
14: 52,159,760 (GRCm39) |
N126K |
probably damaging |
Het |
| Sema5b |
G |
T |
16: 35,467,479 (GRCm39) |
V248L |
possibly damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,881,564 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
A |
T |
2: 130,526,914 (GRCm39) |
L738Q |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,001,938 (GRCm39) |
I23F |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,202 (GRCm39) |
|
noncoding transcript |
Het |
| Tcp1 |
A |
G |
17: 13,141,571 (GRCm39) |
E350G |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,980 (GRCm39) |
K518E |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,149 (GRCm39) |
E317G |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,943,344 (GRCm39) |
S335G |
probably benign |
Het |
| Usp28 |
G |
T |
9: 48,935,321 (GRCm39) |
E91* |
probably null |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,932 (GRCm39) |
L102P |
probably damaging |
Het |
| Wwtr1 |
A |
C |
3: 57,384,938 (GRCm39) |
L203R |
possibly damaging |
Het |
| Zfp110 |
T |
C |
7: 12,583,467 (GRCm39) |
V705A |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,693 (GRCm39) |
N67S |
probably benign |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation