Incidental Mutation 'R8011:Pou2f1'
ID |
616890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pou2f1
|
Ensembl Gene |
ENSMUSG00000026565 |
Gene Name |
POU domain, class 2, transcription factor 1 |
Synonyms |
Oct-1z, Oct-1A, Oct-1B, Oct-1C, oct-1, Oct1, 2810482H01Rik, Otf-1, Otf1 |
MMRRC Submission |
046051-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8011 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
165692723-165830247 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 165722472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027850]
[ENSMUST00000069609]
[ENSMUST00000111426]
[ENSMUST00000111427]
[ENSMUST00000111429]
[ENSMUST00000159212]
[ENSMUST00000160260]
[ENSMUST00000160908]
[ENSMUST00000184643]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027850
|
SMART Domains |
Protein: ENSMUSP00000027850 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
low complexity region
|
94 |
123 |
N/A |
INTRINSIC |
low complexity region
|
137 |
152 |
N/A |
INTRINSIC |
low complexity region
|
171 |
192 |
N/A |
INTRINSIC |
low complexity region
|
199 |
217 |
N/A |
INTRINSIC |
POU
|
241 |
315 |
1.55e-52 |
SMART |
low complexity region
|
316 |
332 |
N/A |
INTRINSIC |
HOX
|
342 |
404 |
2.54e-19 |
SMART |
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
low complexity region
|
453 |
520 |
N/A |
INTRINSIC |
low complexity region
|
529 |
567 |
N/A |
INTRINSIC |
low complexity region
|
675 |
685 |
N/A |
INTRINSIC |
low complexity region
|
688 |
705 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069609
|
SMART Domains |
Protein: ENSMUSP00000064000 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
112 |
N/A |
INTRINSIC |
low complexity region
|
130 |
172 |
N/A |
INTRINSIC |
low complexity region
|
189 |
204 |
N/A |
INTRINSIC |
low complexity region
|
223 |
244 |
N/A |
INTRINSIC |
low complexity region
|
251 |
269 |
N/A |
INTRINSIC |
POU
|
293 |
367 |
1.55e-52 |
SMART |
low complexity region
|
368 |
384 |
N/A |
INTRINSIC |
HOX
|
394 |
456 |
2.54e-19 |
SMART |
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
low complexity region
|
505 |
572 |
N/A |
INTRINSIC |
low complexity region
|
581 |
619 |
N/A |
INTRINSIC |
low complexity region
|
727 |
737 |
N/A |
INTRINSIC |
low complexity region
|
740 |
757 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111426
|
SMART Domains |
Protein: ENSMUSP00000107055 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
112 |
N/A |
INTRINSIC |
low complexity region
|
130 |
172 |
N/A |
INTRINSIC |
low complexity region
|
189 |
204 |
N/A |
INTRINSIC |
low complexity region
|
223 |
244 |
N/A |
INTRINSIC |
low complexity region
|
251 |
269 |
N/A |
INTRINSIC |
POU
|
293 |
367 |
6.7e-55 |
SMART |
low complexity region
|
368 |
384 |
N/A |
INTRINSIC |
HOX
|
394 |
456 |
1.3e-21 |
SMART |
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
low complexity region
|
531 |
596 |
N/A |
INTRINSIC |
low complexity region
|
605 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111427
|
SMART Domains |
Protein: ENSMUSP00000107056 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
112 |
N/A |
INTRINSIC |
low complexity region
|
130 |
172 |
N/A |
INTRINSIC |
low complexity region
|
189 |
204 |
N/A |
INTRINSIC |
low complexity region
|
223 |
244 |
N/A |
INTRINSIC |
low complexity region
|
251 |
269 |
N/A |
INTRINSIC |
POU
|
293 |
367 |
1.55e-52 |
SMART |
low complexity region
|
368 |
384 |
N/A |
INTRINSIC |
HOX
|
394 |
456 |
2.54e-19 |
SMART |
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
low complexity region
|
531 |
596 |
N/A |
INTRINSIC |
low complexity region
|
605 |
643 |
N/A |
INTRINSIC |
low complexity region
|
751 |
761 |
N/A |
INTRINSIC |
low complexity region
|
764 |
781 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111429
|
SMART Domains |
Protein: ENSMUSP00000107057 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
low complexity region
|
118 |
160 |
N/A |
INTRINSIC |
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
low complexity region
|
211 |
232 |
N/A |
INTRINSIC |
low complexity region
|
239 |
257 |
N/A |
INTRINSIC |
POU
|
281 |
355 |
6.7e-55 |
SMART |
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
HOX
|
382 |
444 |
1.3e-21 |
SMART |
low complexity region
|
462 |
488 |
N/A |
INTRINSIC |
low complexity region
|
493 |
560 |
N/A |
INTRINSIC |
low complexity region
|
569 |
607 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159212
|
SMART Domains |
Protein: ENSMUSP00000125371 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
low complexity region
|
118 |
160 |
N/A |
INTRINSIC |
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
low complexity region
|
211 |
232 |
N/A |
INTRINSIC |
low complexity region
|
239 |
257 |
N/A |
INTRINSIC |
POU
|
281 |
355 |
1.55e-52 |
SMART |
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
HOX
|
382 |
444 |
2.54e-19 |
SMART |
low complexity region
|
462 |
488 |
N/A |
INTRINSIC |
low complexity region
|
493 |
560 |
N/A |
INTRINSIC |
low complexity region
|
569 |
607 |
N/A |
INTRINSIC |
low complexity region
|
715 |
725 |
N/A |
INTRINSIC |
low complexity region
|
728 |
745 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160260
|
SMART Domains |
Protein: ENSMUSP00000124738 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
low complexity region
|
94 |
123 |
N/A |
INTRINSIC |
low complexity region
|
141 |
183 |
N/A |
INTRINSIC |
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
low complexity region
|
234 |
255 |
N/A |
INTRINSIC |
low complexity region
|
262 |
280 |
N/A |
INTRINSIC |
POU
|
304 |
378 |
1.55e-52 |
SMART |
low complexity region
|
379 |
395 |
N/A |
INTRINSIC |
HOX
|
405 |
467 |
2.54e-19 |
SMART |
low complexity region
|
485 |
511 |
N/A |
INTRINSIC |
low complexity region
|
542 |
607 |
N/A |
INTRINSIC |
low complexity region
|
616 |
654 |
N/A |
INTRINSIC |
low complexity region
|
762 |
772 |
N/A |
INTRINSIC |
low complexity region
|
775 |
792 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160908
|
SMART Domains |
Protein: ENSMUSP00000125444 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
low complexity region
|
94 |
123 |
N/A |
INTRINSIC |
low complexity region
|
141 |
183 |
N/A |
INTRINSIC |
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
low complexity region
|
234 |
255 |
N/A |
INTRINSIC |
low complexity region
|
262 |
280 |
N/A |
INTRINSIC |
POU
|
304 |
378 |
1.55e-52 |
SMART |
low complexity region
|
379 |
395 |
N/A |
INTRINSIC |
HOX
|
405 |
467 |
2.54e-19 |
SMART |
low complexity region
|
485 |
511 |
N/A |
INTRINSIC |
low complexity region
|
516 |
583 |
N/A |
INTRINSIC |
low complexity region
|
592 |
630 |
N/A |
INTRINSIC |
low complexity region
|
738 |
748 |
N/A |
INTRINSIC |
low complexity region
|
751 |
768 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184643
|
SMART Domains |
Protein: ENSMUSP00000138962 Gene: ENSMUSG00000026565
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
low complexity region
|
118 |
160 |
N/A |
INTRINSIC |
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
low complexity region
|
211 |
232 |
N/A |
INTRINSIC |
low complexity region
|
239 |
257 |
N/A |
INTRINSIC |
POU
|
281 |
355 |
6.7e-55 |
SMART |
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
HOX
|
382 |
444 |
1.3e-21 |
SMART |
low complexity region
|
462 |
488 |
N/A |
INTRINSIC |
low complexity region
|
493 |
560 |
N/A |
INTRINSIC |
low complexity region
|
569 |
607 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010] PHENOTYPE: Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly damaging |
Het |
|
Other mutations in Pou2f1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Pou2f1
|
APN |
1 |
165,729,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00392:Pou2f1
|
APN |
1 |
165,724,159 (GRCm39) |
splice site |
probably benign |
|
IGL01627:Pou2f1
|
APN |
1 |
165,708,002 (GRCm39) |
unclassified |
probably benign |
|
IGL01707:Pou2f1
|
APN |
1 |
165,742,685 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02735:Pou2f1
|
APN |
1 |
165,703,396 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02740:Pou2f1
|
APN |
1 |
165,710,685 (GRCm39) |
nonsense |
probably null |
|
IGL03117:Pou2f1
|
APN |
1 |
165,762,382 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03272:Pou2f1
|
APN |
1 |
165,724,049 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0021:Pou2f1
|
UTSW |
1 |
165,703,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Pou2f1
|
UTSW |
1 |
165,719,399 (GRCm39) |
missense |
probably damaging |
0.98 |
R2171:Pou2f1
|
UTSW |
1 |
165,707,925 (GRCm39) |
unclassified |
probably benign |
|
R3722:Pou2f1
|
UTSW |
1 |
165,722,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R3789:Pou2f1
|
UTSW |
1 |
165,722,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R3790:Pou2f1
|
UTSW |
1 |
165,722,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R3901:Pou2f1
|
UTSW |
1 |
165,722,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R4225:Pou2f1
|
UTSW |
1 |
165,738,889 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4459:Pou2f1
|
UTSW |
1 |
165,722,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R4460:Pou2f1
|
UTSW |
1 |
165,722,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R4573:Pou2f1
|
UTSW |
1 |
165,740,830 (GRCm39) |
missense |
probably benign |
0.29 |
R4820:Pou2f1
|
UTSW |
1 |
165,719,517 (GRCm39) |
intron |
probably benign |
|
R4838:Pou2f1
|
UTSW |
1 |
165,744,492 (GRCm39) |
missense |
probably null |
1.00 |
R5579:Pou2f1
|
UTSW |
1 |
165,742,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R5856:Pou2f1
|
UTSW |
1 |
165,742,699 (GRCm39) |
missense |
probably benign |
0.14 |
R5951:Pou2f1
|
UTSW |
1 |
165,710,625 (GRCm39) |
unclassified |
probably benign |
|
R6128:Pou2f1
|
UTSW |
1 |
165,703,056 (GRCm39) |
unclassified |
probably benign |
|
R6145:Pou2f1
|
UTSW |
1 |
165,703,002 (GRCm39) |
unclassified |
probably benign |
|
R6216:Pou2f1
|
UTSW |
1 |
165,707,889 (GRCm39) |
unclassified |
probably benign |
|
R6971:Pou2f1
|
UTSW |
1 |
165,759,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R7052:Pou2f1
|
UTSW |
1 |
165,742,684 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7403:Pou2f1
|
UTSW |
1 |
165,738,955 (GRCm39) |
missense |
unknown |
|
R7404:Pou2f1
|
UTSW |
1 |
165,738,955 (GRCm39) |
missense |
unknown |
|
R7741:Pou2f1
|
UTSW |
1 |
165,703,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R8478:Pou2f1
|
UTSW |
1 |
165,759,287 (GRCm39) |
start codon destroyed |
probably null |
|
R8804:Pou2f1
|
UTSW |
1 |
165,708,039 (GRCm39) |
missense |
unknown |
|
R8892:Pou2f1
|
UTSW |
1 |
165,708,027 (GRCm39) |
missense |
unknown |
|
R9126:Pou2f1
|
UTSW |
1 |
165,722,603 (GRCm39) |
missense |
unknown |
|
R9151:Pou2f1
|
UTSW |
1 |
165,703,640 (GRCm39) |
intron |
probably benign |
|
R9469:Pou2f1
|
UTSW |
1 |
165,740,830 (GRCm39) |
missense |
probably benign |
0.29 |
R9665:Pou2f1
|
UTSW |
1 |
165,703,600 (GRCm39) |
missense |
probably damaging |
0.99 |
RF012:Pou2f1
|
UTSW |
1 |
165,740,800 (GRCm39) |
missense |
unknown |
|
X0022:Pou2f1
|
UTSW |
1 |
165,724,025 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTTATTAGCCACAGATGAAAATCC -3'
(R):5'- CCTCGGAAGACATCACCTTG -3'
Sequencing Primer
(F):5'- AGATCTAAATGTGAGCTCGCTGC -3'
(R):5'- CGGAAGACATCACCTTGATTGCTG -3'
|
Posted On |
2020-01-23 |