Incidental Mutation 'R1621:Pou2af1'
ID |
174665 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pou2af1
|
Ensembl Gene |
ENSMUSG00000032053 |
Gene Name |
POU domain, class 2, associating factor 1 |
Synonyms |
OCAB, OCA-B, BOB.1, Bob-1, OBF-1, OBF.1, Bob1 |
MMRRC Submission |
039658-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1621 (G1)
|
Quality Score |
211 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
51125008-51151380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 51144160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 54
(H54Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034554]
|
AlphaFold |
Q64693 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034554
AA Change: H54Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034554 Gene: ENSMUSG00000032053 AA Change: H54Y
Domain | Start | End | E-Value | Type |
Pfam:PD-C2-AF1
|
7 |
255 |
4.8e-144 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214322
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of mature B cells, absence of germinal centers, and low serum levels of non-IgM immunoglobulins. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
Het |
|
Other mutations in Pou2af1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1514:Pou2af1
|
UTSW |
9 |
51,144,508 (GRCm39) |
missense |
probably benign |
0.21 |
R4609:Pou2af1
|
UTSW |
9 |
51,149,525 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4757:Pou2af1
|
UTSW |
9 |
51,144,439 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7635:Pou2af1
|
UTSW |
9 |
51,144,283 (GRCm39) |
missense |
probably benign |
0.00 |
R7686:Pou2af1
|
UTSW |
9 |
51,149,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R7891:Pou2af1
|
UTSW |
9 |
51,144,297 (GRCm39) |
missense |
probably damaging |
0.99 |
R8295:Pou2af1
|
UTSW |
9 |
51,144,305 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8349:Pou2af1
|
UTSW |
9 |
51,144,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8449:Pou2af1
|
UTSW |
9 |
51,144,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R9753:Pou2af1
|
UTSW |
9 |
51,149,636 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1177:Pou2af1
|
UTSW |
9 |
51,144,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGGGAGCCAATTGTACACATCC -3'
(R):5'- GCAGAAACCTCCATGTCAAGGCAG -3'
Sequencing Primer
(F):5'- GAGCCAATTGTACACATCCTAGTG -3'
(R):5'- CTCCATGTCAAGGCAGGAAGG -3'
|
Posted On |
2014-04-24 |