Incidental Mutation 'IGL03062:Pou5f1'
| ID |
409499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pou5f1
|
| Ensembl Gene |
ENSMUSG00000024406 |
| Gene Name |
POU domain, class 5, transcription factor 1 |
| Synonyms |
Otf3-rs7, Otf3, Otf4, Otf-3, Oct-3/4, Oct-3, Otf-4, Oct3/4, Oct-4, Otf3g, Oct4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35816929-35821674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35820936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 126
(N126I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025271]
[ENSMUST00000159009]
[ENSMUST00000160885]
[ENSMUST00000161012]
[ENSMUST00000162683]
[ENSMUST00000172651]
[ENSMUST00000173256]
[ENSMUST00000174782]
[ENSMUST00000173805]
[ENSMUST00000173934]
|
| AlphaFold |
P20263 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025271
AA Change: N232I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: N232I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
POU
|
131 |
205 |
2.88e-47 |
SMART |
|
HOX
|
223 |
285 |
4.75e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159009
|
| SMART Domains |
Protein: ENSMUSP00000124449
Gene: ENSMUSG00000050410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
16 |
N/A |
INTRINSIC |
|
FHA
|
30 |
88 |
8.28e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160885
|
| SMART Domains |
Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
16 |
N/A |
INTRINSIC |
|
FHA
|
30 |
88 |
8.28e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161012
|
| SMART Domains |
Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
16 |
N/A |
INTRINSIC |
|
FHA
|
30 |
88 |
8.28e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162683
|
| SMART Domains |
Protein: ENSMUSP00000125659
Gene: ENSMUSG00000050410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
16 |
N/A |
INTRINSIC |
|
FHA
|
30 |
88 |
8.28e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172651
AA Change: N101I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
1 |
74 |
1.3e-45 |
SMART |
|
Pfam:Homeobox
|
93 |
132 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173256
AA Change: N101I
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
1 |
74 |
1.3e-45 |
SMART |
|
Pfam:Homeobox
|
93 |
132 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174782
AA Change: N126I
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406
AA Change: N126I
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
25 |
99 |
2.88e-47 |
SMART |
|
Pfam:Homeobox
|
118 |
157 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173805
AA Change: N101I
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
1 |
74 |
1.3e-45 |
SMART |
|
Pfam:Homeobox
|
93 |
132 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173934
AA Change: N101I
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
1 |
74 |
1.3e-45 |
SMART |
|
Pfam:Homeobox
|
93 |
132 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175723
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to 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 plays a key role in embryonic development and stem cell pluripotency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygosity for a targeted null mutation results in peri-implantation lethality prior to the egg cylinder stage, associated with failure to develop a pluripotent inner cell mass. Conditional mutations show defects in reproduction. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(86) : Targeted(7) Gene trapped(79)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
| Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
| Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
| Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
| Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
| Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
| Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
| Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
| Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
| Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
| Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
| Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
| Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
| Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
Het |
|
| Other mutations in Pou5f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02744:Pou5f1
|
APN |
17 |
35,820,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Pou5f1
|
APN |
17 |
35,820,939 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0553:Pou5f1
|
UTSW |
17 |
35,820,374 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2105:Pou5f1
|
UTSW |
17 |
35,820,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2231:Pou5f1
|
UTSW |
17 |
35,820,959 (GRCm39) |
missense |
probably benign |
|
|
R4691:Pou5f1
|
UTSW |
17 |
35,817,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4953:Pou5f1
|
UTSW |
17 |
35,821,438 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6208:Pou5f1
|
UTSW |
17 |
35,821,357 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8171:Pou5f1
|
UTSW |
17 |
35,820,933 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8914:Pou5f1
|
UTSW |
17 |
35,821,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8957:Pou5f1
|
UTSW |
17 |
35,821,366 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9122:Pou5f1
|
UTSW |
17 |
35,819,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Pou5f1
|
UTSW |
17 |
35,819,731 (GRCm39) |
start gained |
probably benign |
|
|
X0027:Pou5f1
|
UTSW |
17 |
35,817,343 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation