Incidental Mutation 'R6536:Pou3f3'
| ID |
520378 |
| 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 |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
42734928-42739370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42737374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 357
(I357V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054883]
|
| AlphaFold |
P31361 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054883
AA Change: I357V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052088
Gene: ENSMUSG00000045515
AA Change: I357V
| 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: ENSMUST00000181660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199521
|
| Meta Mutation Damage Score |
0.3957 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
probably 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 |
|
R4391:Pou3f3
|
UTSW |
1 |
42,736,618 (GRCm39) |
missense |
unknown |
|
|
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 |
|
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'- AGAGTCTGCTGTACTCGCAG -3'
(R):5'- TTGACGCTAACCTCGATGGAG -3'
Sequencing Primer
(F):5'- TGAACGGCATGCTGAGC -3'
(R):5'- TCGATGGAGGTCCGCTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation