Incidental Mutation 'R6465:Pou2f3'
| ID |
517780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou2f3
|
| Ensembl Gene |
ENSMUSG00000032015 |
| Gene Name |
POU domain, class 2, transcription factor 3 |
| Synonyms |
Skn-1a, Otf-11, Epoc-1, Skn-li, Oct-11a, Skin, Oct11, Skin-1a, Otf11 |
| MMRRC Submission |
044598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6465 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
43035222-43117052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 43051162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 175
(F175V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034513]
[ENSMUST00000176636]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034513
AA Change: F175V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: F175V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
162 |
N/A |
INTRINSIC |
|
POU
|
164 |
238 |
1.47e-53 |
SMART |
|
low complexity region
|
239 |
256 |
N/A |
INTRINSIC |
|
HOX
|
262 |
324 |
8.39e-20 |
SMART |
|
low complexity region
|
337 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176636
AA Change: F187V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: F187V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
POU
|
176 |
250 |
1.47e-53 |
SMART |
|
low complexity region
|
251 |
268 |
N/A |
INTRINSIC |
|
HOX
|
274 |
336 |
8.39e-20 |
SMART |
|
low complexity region
|
349 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213862
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one null mutation exhibit defective keratinocyte differentiation, however the skin and coat appear normal. Mice homozygous for another null mutation display loss of sweet, umami and bitter taste perception and expansion of sour taste receptor cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
| Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
| Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
| Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
| Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
| Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
| Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
| Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
| Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
| Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
| Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
| Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
| Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
| Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
| Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
probably benign |
Het |
| Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
Het |
|
| Other mutations in Pou2f3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Pou2f3
|
APN |
9 |
43,040,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00508:Pou2f3
|
APN |
9 |
43,051,258 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00975:Pou2f3
|
APN |
9 |
43,048,679 (GRCm39) |
missense |
probably benign |
|
|
IGL01577:Pou2f3
|
APN |
9 |
43,058,178 (GRCm39) |
nonsense |
probably null |
|
|
IGL01871:Pou2f3
|
APN |
9 |
43,045,768 (GRCm39) |
splice site |
probably benign |
|
|
IGL02370:Pou2f3
|
APN |
9 |
43,048,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Pou2f3
|
APN |
9 |
43,050,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Pou2f3
|
APN |
9 |
43,058,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02956:Pou2f3
|
APN |
9 |
43,054,100 (GRCm39) |
splice site |
probably benign |
|
|
IGL02962:Pou2f3
|
APN |
9 |
43,036,384 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03082:Pou2f3
|
APN |
9 |
43,058,212 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0433:Pou2f3
|
UTSW |
9 |
43,038,693 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0622:Pou2f3
|
UTSW |
9 |
43,036,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:Pou2f3
|
UTSW |
9 |
43,058,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Pou2f3
|
UTSW |
9 |
43,056,534 (GRCm39) |
missense |
probably benign |
|
|
R4782:Pou2f3
|
UTSW |
9 |
43,051,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4877:Pou2f3
|
UTSW |
9 |
43,050,618 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5070:Pou2f3
|
UTSW |
9 |
43,056,578 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5910:Pou2f3
|
UTSW |
9 |
43,045,769 (GRCm39) |
splice site |
probably null |
|
|
R6280:Pou2f3
|
UTSW |
9 |
43,050,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Pou2f3
|
UTSW |
9 |
43,050,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Pou2f3
|
UTSW |
9 |
43,040,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Pou2f3
|
UTSW |
9 |
43,050,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Pou2f3
|
UTSW |
9 |
43,058,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Pou2f3
|
UTSW |
9 |
43,051,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8912:Pou2f3
|
UTSW |
9 |
43,110,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9224:Pou2f3
|
UTSW |
9 |
43,050,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Pou2f3
|
UTSW |
9 |
43,040,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGGACCATGCCATTTC -3'
(R):5'- TTGTAGCTTACCATAGCGTGTG -3'
Sequencing Primer
(F):5'- TCGATCTCCCCGAGCAATG -3'
(R):5'- ACCATAGCGTGTGTTCCTTATCAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation