Incidental Mutation 'R9788:Phf21a'
| ID |
734426 |
| 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 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9788 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
92014096-92195011 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 92181978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106923
(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 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,192,253 (GRCm39) |
M753K |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,045,733 (GRCm39) |
T572A |
probably benign |
Het |
| Bmp8b |
A |
G |
4: 122,999,369 (GRCm39) |
M76V |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,723,473 (GRCm39) |
S15P |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,499 (GRCm39) |
I702V |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cntln |
G |
A |
4: 84,968,093 (GRCm39) |
V771M |
probably damaging |
Het |
| Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,347 (GRCm39) |
C369Y |
possibly damaging |
Het |
| Elapor1 |
G |
A |
3: 108,377,297 (GRCm39) |
T387I |
possibly damaging |
Het |
| Ephb4 |
T |
G |
5: 137,363,743 (GRCm39) |
Y583D |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,192,140 (GRCm39) |
D63G |
probably benign |
Het |
| Gfra1 |
A |
G |
19: 58,441,652 (GRCm39) |
M93T |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,724 (GRCm39) |
H10Q |
possibly damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,307,185 (GRCm39) |
I1002L |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,528,333 (GRCm39) |
I3272V |
probably benign |
Het |
| Izumo3 |
A |
G |
4: 92,035,037 (GRCm39) |
I60T |
probably benign |
Het |
| Jakmip2 |
T |
A |
18: 43,704,927 (GRCm39) |
N358I |
probably damaging |
Het |
| Klra9 |
T |
A |
6: 130,159,385 (GRCm39) |
K209N |
possibly damaging |
Het |
| Ldah |
A |
T |
12: 8,333,946 (GRCm39) |
Y279F |
possibly damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,602,286 (GRCm39) |
H126Q |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mipep |
A |
G |
14: 61,083,893 (GRCm39) |
T595A |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,586,204 (GRCm39) |
T859A |
probably benign |
Het |
| Mogat1 |
A |
G |
1: 78,499,342 (GRCm39) |
M39V |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,232,100 (GRCm39) |
D968G |
probably damaging |
Het |
| Nab1 |
T |
C |
1: 52,529,166 (GRCm39) |
K244E |
possibly damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,314,638 (GRCm39) |
|
probably null |
Het |
| Nxph1 |
A |
G |
6: 9,247,418 (GRCm39) |
T130A |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,969,678 (GRCm39) |
V2426A |
possibly damaging |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or11l3 |
T |
A |
11: 58,516,692 (GRCm39) |
Y60F |
probably benign |
Het |
| Or1e31 |
T |
C |
11: 73,689,768 (GRCm39) |
T272A |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,558,181 (GRCm39) |
F37S |
probably benign |
Het |
| Or5p4 |
T |
C |
7: 107,680,745 (GRCm39) |
V248A |
probably damaging |
Het |
| Or8g21 |
A |
G |
9: 38,906,296 (GRCm39) |
V145A |
possibly damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,324,344 (GRCm39) |
|
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,087 (GRCm39) |
C259S |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,245 (GRCm39) |
Y1062H |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,681,136 (GRCm39) |
I164V |
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,854,892 (GRCm39) |
M42K |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,961,422 (GRCm39) |
D278G |
possibly damaging |
Het |
| Plod3 |
A |
G |
5: 137,019,911 (GRCm39) |
Y447C |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,524 (GRCm39) |
S12P |
possibly damaging |
Het |
| Ptprq |
A |
T |
10: 107,401,751 (GRCm39) |
C1914S |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,078,080 (GRCm39) |
T715A |
possibly damaging |
Het |
| Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
| Sarm1 |
A |
G |
11: 78,378,863 (GRCm39) |
L394P |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,535,901 (GRCm39) |
S258P |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a26 |
G |
A |
19: 7,763,798 (GRCm39) |
P412S |
probably benign |
Het |
| Son |
TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA |
TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA |
16: 91,453,699 (GRCm39) |
|
probably benign |
Het |
| Synrg |
A |
T |
11: 83,877,781 (GRCm39) |
H342L |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,788,596 (GRCm39) |
Y478C |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,740,702 (GRCm39) |
E535G |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,653,171 (GRCm39) |
L303P |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,041,942 (GRCm39) |
N258D |
possibly damaging |
Het |
| Zfp616 |
G |
A |
11: 73,975,276 (GRCm39) |
G515D |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,816 (GRCm39) |
L374P |
probably benign |
Het |
| Zfp82 |
C |
T |
7: 29,755,963 (GRCm39) |
R373H |
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 |
|
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 |
|
Z1177:Phf21a
|
UTSW |
2 |
92,061,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTATGCTCCAAGACTCCC -3'
(R):5'- CCCAAGTTACTTACGTCTGTGG -3'
Sequencing Primer
(F):5'- GCTATGCTCCAAGACTCCCTTCTC -3'
(R):5'- CACAGGCTGAACAGGTGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation