Incidental Mutation 'IGL03155:Phf21a'
ID |
411226 |
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 # |
IGL03155
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
92014096-92195011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 92150611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 64
(V64G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044036]
[ENSMUST00000068702]
[ENSMUST00000090586]
[ENSMUST00000111290]
[ENSMUST00000111291]
[ENSMUST00000111292]
[ENSMUST00000111293]
[ENSMUST00000159961]
[ENSMUST00000111294]
[ENSMUST00000111297]
[ENSMUST00000162146]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044036
AA Change: V64G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038497 Gene: ENSMUSG00000058318 AA Change: V64G
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 |
possibly damaging
Transcript: ENSMUST00000068702
AA Change: V64G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070649 Gene: ENSMUSG00000058318 AA Change: V64G
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: V64G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088074 Gene: ENSMUSG00000058318 AA Change: V64G
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: V64G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106921 Gene: ENSMUSG00000058318 AA Change: V64G
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: V64G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106922 Gene: ENSMUSG00000058318 AA Change: V64G
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 |
possibly damaging
Transcript: ENSMUST00000111292
AA Change: V64G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106923 Gene: ENSMUSG00000058318 AA Change: V64G
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: V64G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106924 Gene: ENSMUSG00000058318 AA Change: V64G
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 |
possibly damaging
Transcript: ENSMUST00000159961
AA Change: V36G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123955 Gene: ENSMUSG00000058318 AA Change: V36G
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: ENSMUST00000111294
AA Change: V64G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106925 Gene: ENSMUSG00000058318 AA Change: V64G
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: V64G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106928 Gene: ENSMUSG00000058318 AA Change: V64G
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: ENSMUST00000162146
AA Change: V71G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124032 Gene: ENSMUSG00000058318 AA Change: V71G
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159366
AA Change: V61G
|
SMART Domains |
Protein: ENSMUSP00000124238 Gene: ENSMUSG00000058318 AA Change: V61G
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: ENSMUST00000159727
|
SMART Domains |
Protein: ENSMUSP00000124845 Gene: ENSMUSG00000058318
Domain | Start | End | E-Value | Type |
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
C |
T |
2: 131,388,001 (GRCm39) |
R518H |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,041,837 (GRCm39) |
C190* |
probably null |
Het |
Cct2 |
A |
T |
10: 116,896,576 (GRCm39) |
L209Q |
probably damaging |
Het |
Chordc1 |
T |
A |
9: 18,215,616 (GRCm39) |
S123T |
possibly damaging |
Het |
Crtap |
T |
C |
9: 114,209,117 (GRCm39) |
D309G |
possibly damaging |
Het |
Csf2 |
T |
C |
11: 54,138,497 (GRCm39) |
T115A |
possibly damaging |
Het |
Dgkb |
T |
A |
12: 38,189,458 (GRCm39) |
I287N |
probably damaging |
Het |
Dyrk1b |
G |
A |
7: 27,882,112 (GRCm39) |
D98N |
probably benign |
Het |
Eif4g1 |
T |
C |
16: 20,511,167 (GRCm39) |
S1550P |
probably damaging |
Het |
Fam83e |
A |
G |
7: 45,376,499 (GRCm39) |
E404G |
possibly damaging |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
Fsip1 |
A |
T |
2: 118,082,220 (GRCm39) |
N71K |
probably benign |
Het |
Gm5092 |
A |
T |
17: 21,314,970 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1l |
T |
A |
16: 18,359,282 (GRCm39) |
|
probably null |
Het |
Got1l1 |
T |
C |
8: 27,689,360 (GRCm39) |
Y233C |
probably damaging |
Het |
Katnbl1 |
T |
A |
2: 112,239,577 (GRCm39) |
|
probably null |
Het |
Kcnn2 |
A |
G |
18: 45,818,382 (GRCm39) |
E493G |
probably damaging |
Het |
Kif26b |
C |
T |
1: 178,701,693 (GRCm39) |
R691W |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,285,796 (GRCm39) |
|
probably benign |
Het |
Mast3 |
A |
G |
8: 71,241,861 (GRCm39) |
S107P |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,335,912 (GRCm39) |
N1433D |
probably benign |
Het |
Mycbp2 |
G |
A |
14: 103,392,889 (GRCm39) |
S3114L |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,452,932 (GRCm39) |
H43L |
possibly damaging |
Het |
Nin |
A |
T |
12: 70,078,544 (GRCm39) |
C1681S |
probably damaging |
Het |
Nnmt |
C |
T |
9: 48,503,352 (GRCm39) |
V225M |
probably damaging |
Het |
Or2ag1b |
A |
T |
7: 106,288,446 (GRCm39) |
M164K |
probably damaging |
Het |
Or4c125 |
A |
T |
2: 89,170,310 (GRCm39) |
M112K |
probably damaging |
Het |
Ptprd |
A |
T |
4: 75,984,456 (GRCm39) |
S800R |
possibly damaging |
Het |
Scarf2 |
C |
T |
16: 17,625,413 (GRCm39) |
P823S |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,341,248 (GRCm39) |
T1212A |
possibly damaging |
Het |
Slc38a10 |
C |
T |
11: 119,995,945 (GRCm39) |
V1043I |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,692,034 (GRCm39) |
L370Q |
probably null |
Het |
Tas1r2 |
T |
C |
4: 139,396,467 (GRCm39) |
V602A |
possibly damaging |
Het |
Tatdn1 |
T |
C |
15: 58,788,045 (GRCm39) |
|
probably benign |
Het |
Tdrd6 |
A |
T |
17: 43,936,398 (GRCm39) |
L1550Q |
probably damaging |
Het |
Tet3 |
G |
T |
6: 83,345,365 (GRCm39) |
R1556S |
probably damaging |
Het |
Tnpo2 |
T |
A |
8: 85,771,709 (GRCm39) |
I249N |
probably benign |
Het |
Tnxb |
G |
T |
17: 34,932,569 (GRCm39) |
V2263F |
probably damaging |
Het |
Trim75 |
C |
T |
8: 65,435,992 (GRCm39) |
V153M |
possibly damaging |
Het |
Ttc21a |
T |
A |
9: 119,773,042 (GRCm39) |
|
probably null |
Het |
Tuft1 |
T |
A |
3: 94,541,821 (GRCm39) |
I61L |
possibly damaging |
Het |
Usp43 |
T |
C |
11: 67,767,315 (GRCm39) |
D680G |
probably damaging |
Het |
Vac14 |
A |
G |
8: 111,362,975 (GRCm39) |
I274V |
possibly damaging |
Het |
Vmn1r222 |
T |
A |
13: 23,416,863 (GRCm39) |
R117W |
probably damaging |
Het |
Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
Vmn2r43 |
T |
A |
7: 8,258,068 (GRCm39) |
I382L |
possibly damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,552,878 (GRCm39) |
V793I |
probably damaging |
Het |
Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
Yeats2 |
T |
C |
16: 20,048,323 (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 |
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 |
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 |
2016-08-02 |