Incidental Mutation 'IGL02311:Phf21b'
ID |
287824 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phf21b
|
Ensembl Gene |
ENSMUSG00000016624 |
Gene Name |
PHD finger protein 21B |
Synonyms |
A730032D07Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02311
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
84669582-84740250 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 84678095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016768]
[ENSMUST00000159939]
[ENSMUST00000162044]
|
AlphaFold |
Q8C966 |
Predicted Effect |
probably null
Transcript: ENSMUST00000016768
|
SMART Domains |
Protein: ENSMUSP00000016768 Gene: ENSMUSG00000016624
Domain | Start | End | E-Value | Type |
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
PHD
|
297 |
340 |
6.64e-10 |
SMART |
coiled coil region
|
368 |
403 |
N/A |
INTRINSIC |
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159502
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159939
|
SMART Domains |
Protein: ENSMUSP00000125355 Gene: ENSMUSG00000016624
Domain | Start | End | E-Value | Type |
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
PHD
|
309 |
352 |
6.64e-10 |
SMART |
coiled coil region
|
380 |
415 |
N/A |
INTRINSIC |
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162044
|
SMART Domains |
Protein: ENSMUSP00000124941 Gene: ENSMUSG00000016624
Domain | Start | End | E-Value | Type |
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
Other mutations in Phf21b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01785:Phf21b
|
APN |
15 |
84,692,262 (GRCm39) |
splice site |
probably benign |
|
IGL02700:Phf21b
|
APN |
15 |
84,687,662 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03201:Phf21b
|
APN |
15 |
84,671,448 (GRCm39) |
missense |
probably benign |
0.32 |
R0113:Phf21b
|
UTSW |
15 |
84,688,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Phf21b
|
UTSW |
15 |
84,689,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R1464:Phf21b
|
UTSW |
15 |
84,689,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R1529:Phf21b
|
UTSW |
15 |
84,681,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Phf21b
|
UTSW |
15 |
84,681,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Phf21b
|
UTSW |
15 |
84,738,963 (GRCm39) |
missense |
probably benign |
0.41 |
R3683:Phf21b
|
UTSW |
15 |
84,682,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Phf21b
|
UTSW |
15 |
84,738,942 (GRCm39) |
nonsense |
probably null |
|
R5476:Phf21b
|
UTSW |
15 |
84,671,466 (GRCm39) |
missense |
probably benign |
|
R5526:Phf21b
|
UTSW |
15 |
84,676,006 (GRCm39) |
missense |
probably benign |
0.00 |
R5659:Phf21b
|
UTSW |
15 |
84,678,101 (GRCm39) |
nonsense |
probably null |
|
R6208:Phf21b
|
UTSW |
15 |
84,679,317 (GRCm39) |
missense |
probably damaging |
0.97 |
R6281:Phf21b
|
UTSW |
15 |
84,738,946 (GRCm39) |
missense |
probably benign |
0.02 |
R6288:Phf21b
|
UTSW |
15 |
84,739,272 (GRCm39) |
intron |
probably benign |
|
R6322:Phf21b
|
UTSW |
15 |
84,671,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6875:Phf21b
|
UTSW |
15 |
84,671,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R7087:Phf21b
|
UTSW |
15 |
84,676,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Phf21b
|
UTSW |
15 |
84,739,918 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
R7331:Phf21b
|
UTSW |
15 |
84,675,295 (GRCm39) |
missense |
probably benign |
0.00 |
R7439:Phf21b
|
UTSW |
15 |
84,689,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Phf21b
|
UTSW |
15 |
84,689,070 (GRCm39) |
missense |
probably damaging |
0.99 |
R7949:Phf21b
|
UTSW |
15 |
84,676,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Phf21b
|
UTSW |
15 |
84,671,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Phf21b
|
UTSW |
15 |
84,738,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9468:Phf21b
|
UTSW |
15 |
84,689,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |