Incidental Mutation 'R4391:Pou3f3'
| ID |
326348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou3f3
|
| Ensembl Gene |
ENSMUSG00000045515 |
| Gene Name |
POU domain, class 3, transcription factor 3 |
| Synonyms |
HST011, Brn-1, Brn1, urehr2, Otf8 |
| MMRRC Submission |
041682-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4391 (G1)
|
| Quality Score |
81 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
42734928-42739370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42736618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 105
(A105S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054883]
|
| AlphaFold |
P31361 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000054883
AA Change: A105S
|
| SMART Domains |
Protein: ENSMUSP00000052088
Gene: ENSMUSG00000045515
AA Change: A105S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
301 |
N/A |
INTRINSIC |
|
POU
|
311 |
385 |
9.06e-54 |
SMART |
|
HOX
|
403 |
465 |
3.91e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188153
|
| Meta Mutation Damage Score |
0.1626 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in death within 36 hours after birth. Mutant brains exhibit disorganized cells in the hippocampus and adjacent transitional cortex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
A |
T |
12: 31,234,622 (GRCm39) |
|
noncoding transcript |
Het |
| Actn2 |
C |
T |
13: 12,305,634 (GRCm39) |
R394Q |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,687,842 (GRCm39) |
D62G |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,839,076 (GRCm39) |
T635A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 31,016,792 (GRCm39) |
T1575I |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
| Dnajc12 |
A |
G |
10: 63,242,838 (GRCm39) |
T37A |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Epas1 |
T |
C |
17: 87,117,091 (GRCm39) |
L218P |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,391,155 (GRCm39) |
S581* |
probably null |
Het |
| Focad |
T |
A |
4: 88,104,195 (GRCm39) |
I358K |
probably damaging |
Het |
| Gm382 |
T |
A |
X: 125,968,942 (GRCm39) |
S376T |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,214,009 (GRCm39) |
R179C |
probably damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Krt39 |
C |
T |
11: 99,405,578 (GRCm39) |
A441T |
probably benign |
Het |
| Nrdc |
T |
A |
4: 108,903,841 (GRCm39) |
N662K |
probably damaging |
Het |
| Obox5 |
C |
T |
7: 15,491,899 (GRCm39) |
Q105* |
probably null |
Het |
| Or56a3b |
T |
A |
7: 104,770,793 (GRCm39) |
M43K |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,722,841 (GRCm39) |
V287D |
possibly damaging |
Het |
| Or8c13 |
A |
T |
9: 38,091,645 (GRCm39) |
V158D |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,789 (GRCm39) |
L723Q |
possibly damaging |
Het |
| Ppp1r3d |
C |
T |
2: 178,055,880 (GRCm39) |
D41N |
probably damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,131,749 (GRCm39) |
N497S |
probably benign |
Het |
| Rad54b |
T |
G |
4: 11,615,570 (GRCm39) |
N859K |
probably benign |
Het |
| Sh3bp2 |
C |
T |
5: 34,707,062 (GRCm39) |
S29L |
probably benign |
Het |
| Smarcad1 |
A |
T |
6: 65,033,443 (GRCm39) |
N142I |
probably benign |
Het |
| Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
| Stat3 |
G |
A |
11: 100,796,378 (GRCm39) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 180,950,576 (GRCm39) |
R77G |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Xlr3a |
T |
C |
X: 72,135,450 (GRCm39) |
I87V |
possibly damaging |
Het |
|
| Other mutations in Pou3f3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02143:Pou3f3
|
APN |
1 |
42,737,686 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0800:Pou3f3
|
UTSW |
1 |
42,737,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Pou3f3
|
UTSW |
1 |
42,737,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4529:Pou3f3
|
UTSW |
1 |
42,737,714 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5233:Pou3f3
|
UTSW |
1 |
42,737,438 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6536:Pou3f3
|
UTSW |
1 |
42,737,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Pou3f3
|
UTSW |
1 |
42,737,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Pou3f3
|
UTSW |
1 |
42,736,560 (GRCm39) |
missense |
unknown |
|
|
R9293:Pou3f3
|
UTSW |
1 |
42,736,682 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATTGTGCACTCGGAC -3'
(R):5'- GCGAGTACAGCAGACTCTG -3'
Sequencing Primer
(F):5'- TCCAGAGCGACTTCATG -3'
(R):5'- GTGATGCAGCGCGGTAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation