Incidental Mutation 'IGL01578:Pou4f2'
| ID |
91343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pou4f2
|
| Ensembl Gene |
ENSMUSG00000031688 |
| Gene Name |
POU domain, class 4, transcription factor 2 |
| Synonyms |
Pou4f-rs1, Brn-3b, Brn3b, Brn-3.2, mBrn3-3R |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
79159639-79163274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79162284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034115]
|
| AlphaFold |
Q63934 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034115
AA Change: D106E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: D106E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
POU
|
252 |
329 |
1.33e-51 |
SMART |
|
HOX
|
347 |
409 |
3.31e-18 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pou4f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Pou4f2
|
APN |
8 |
79,161,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Pou4f2
|
APN |
8 |
79,161,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Pou4f2
|
UTSW |
8 |
79,162,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Pou4f2
|
UTSW |
8 |
79,161,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1328:Pou4f2
|
UTSW |
8 |
79,162,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1680:Pou4f2
|
UTSW |
8 |
79,161,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2376:Pou4f2
|
UTSW |
8 |
79,162,814 (GRCm39) |
missense |
unknown |
|
|
R3980:Pou4f2
|
UTSW |
8 |
79,162,067 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4770:Pou4f2
|
UTSW |
8 |
79,163,030 (GRCm39) |
missense |
unknown |
|
|
R4771:Pou4f2
|
UTSW |
8 |
79,161,865 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5288:Pou4f2
|
UTSW |
8 |
79,162,958 (GRCm39) |
missense |
unknown |
|
|
R5395:Pou4f2
|
UTSW |
8 |
79,161,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Pou4f2
|
UTSW |
8 |
79,163,020 (GRCm39) |
missense |
unknown |
|
|
R6036:Pou4f2
|
UTSW |
8 |
79,162,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6036:Pou4f2
|
UTSW |
8 |
79,162,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6883:Pou4f2
|
UTSW |
8 |
79,162,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7300:Pou4f2
|
UTSW |
8 |
79,162,735 (GRCm39) |
splice site |
probably null |
|
|
R7820:Pou4f2
|
UTSW |
8 |
79,163,131 (GRCm39) |
start gained |
probably benign |
|
|
R7983:Pou4f2
|
UTSW |
8 |
79,161,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8944:Pou4f2
|
UTSW |
8 |
79,161,932 (GRCm39) |
missense |
|
|
|
R9171:Pou4f2
|
UTSW |
8 |
79,162,748 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Pou4f2
|
UTSW |
8 |
79,162,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pou4f2
|
UTSW |
8 |
79,161,809 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation