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 |
Incidental Mutation