Incidental Mutation 'R1437:Pou2f1'
| ID |
161267 |
| 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 |
039492-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1437 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
165692723-165830247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165719399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 504
(V504A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107055
(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 |
unknown
Transcript: ENSMUST00000027850
AA Change: V452A
|
| SMART Domains |
Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: V452A
| 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 |
unknown
Transcript: ENSMUST00000069609
AA Change: V504A
|
| SMART Domains |
Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: V504A
| 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 |
noncoding transcript
Transcript: ENSMUST00000082225
|
| SMART Domains |
Protein: ENSMUSP00000080856
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 |
|
POU
|
233 |
309 |
4.88e-27 |
SMART |
|
low complexity region
|
310 |
326 |
N/A |
INTRINSIC |
|
HOX
|
336 |
398 |
2.54e-19 |
SMART |
|
low complexity region
|
416 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111426
AA Change: V504A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: V504A
| 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 |
unknown
Transcript: ENSMUST00000111427
AA Change: V504A
|
| SMART Domains |
Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: V504A
| 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 |
unknown
Transcript: ENSMUST00000111429
AA Change: V492A
|
| SMART Domains |
Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: V492A
| 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 |
unknown
Transcript: ENSMUST00000159212
AA Change: V399A
|
| SMART Domains |
Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: V399A
| 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 |
unknown
Transcript: ENSMUST00000160260
AA Change: V515A
|
| SMART Domains |
Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: V515A
| 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 |
unknown
Transcript: ENSMUST00000160908
AA Change: V515A
|
| SMART Domains |
Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: V515A
| 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 |
noncoding transcript
Transcript: ENSMUST00000177472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176942
|
| SMART Domains |
Protein: ENSMUSP00000135052
Gene: ENSMUSG00000026565
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
251 |
N/A |
INTRINSIC |
|
POU
|
275 |
349 |
1.55e-52 |
SMART |
|
low complexity region
|
350 |
366 |
N/A |
INTRINSIC |
|
HOX
|
376 |
438 |
2.54e-19 |
SMART |
|
low complexity region
|
456 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
601 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176004
|
| SMART Domains |
Protein: ENSMUSP00000135153
Gene: ENSMUSG00000026565
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184643
AA Change: V492A
|
| SMART Domains |
Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: V492A
| 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: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,871,436 (GRCm39) |
V330E |
possibly damaging |
Het |
| Abcb5 |
A |
G |
12: 118,838,497 (GRCm39) |
S1022P |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,829,237 (GRCm39) |
I46T |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,222,109 (GRCm39) |
R275G |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,026 (GRCm39) |
T761A |
unknown |
Het |
| Asap1 |
A |
T |
15: 63,991,956 (GRCm39) |
L751Q |
probably damaging |
Het |
| Atg2a |
C |
A |
19: 6,300,646 (GRCm39) |
P741H |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,675 (GRCm39) |
I46T |
possibly damaging |
Het |
| BC049715 |
C |
A |
6: 136,817,090 (GRCm39) |
A110E |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 36,996,578 (GRCm39) |
H1097N |
possibly damaging |
Het |
| Btbd7 |
T |
A |
12: 102,754,349 (GRCm39) |
T806S |
possibly damaging |
Het |
| Cdk4 |
C |
A |
10: 126,900,558 (GRCm39) |
P108H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,407,963 (GRCm39) |
T2391A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,729,098 (GRCm39) |
A1281E |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,624,654 (GRCm39) |
I165F |
probably damaging |
Het |
| Ctdp1 |
G |
T |
18: 80,493,428 (GRCm39) |
Q356K |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,434,369 (GRCm39) |
M130T |
unknown |
Het |
| Epha5 |
T |
G |
5: 84,381,555 (GRCm39) |
D432A |
probably damaging |
Het |
| Esr1 |
ACGCCGCCGCCGCCGCCGCCGCCGCCGCC |
ACGCCGCCGCCGCCGCCGCCGCCGCC |
10: 4,662,571 (GRCm39) |
|
probably benign |
Het |
| Fads2 |
A |
T |
19: 10,069,193 (GRCm39) |
L77Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,186,731 (GRCm39) |
H1723Q |
possibly damaging |
Het |
| Fbxo42 |
C |
T |
4: 140,895,165 (GRCm39) |
H43Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,233,890 (GRCm39) |
T121A |
possibly damaging |
Het |
| Gpr156 |
T |
G |
16: 37,808,904 (GRCm39) |
S209A |
probably damaging |
Het |
| Hey2 |
T |
C |
10: 30,709,845 (GRCm39) |
T303A |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,310,616 (GRCm39) |
M952K |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,308,617 (GRCm39) |
Q3968* |
probably null |
Het |
| Jup |
T |
C |
11: 100,274,402 (GRCm39) |
E96G |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,297,195 (GRCm39) |
I504T |
probably benign |
Het |
| Klk1b9 |
T |
C |
7: 43,629,114 (GRCm39) |
V174A |
probably damaging |
Het |
| Lama3 |
G |
C |
18: 12,682,284 (GRCm39) |
M1083I |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
| Lrfn2 |
T |
C |
17: 49,378,253 (GRCm39) |
S445P |
probably damaging |
Het |
| Lrp3 |
C |
A |
7: 34,912,595 (GRCm39) |
G31W |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,629,568 (GRCm39) |
L638P |
probably damaging |
Het |
| Mief2 |
C |
T |
11: 60,621,769 (GRCm39) |
T113M |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,899 (GRCm39) |
F76S |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,878,048 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,355,099 (GRCm39) |
R336S |
probably damaging |
Het |
| Nr1i3 |
CACTCAACACTAC |
CAC |
1: 171,044,710 (GRCm39) |
|
probably null |
Het |
| Nr5a1 |
T |
A |
2: 38,600,685 (GRCm39) |
T29S |
probably benign |
Het |
| Or5ak23 |
T |
C |
2: 85,245,218 (GRCm39) |
I2V |
probably benign |
Het |
| Or5as1 |
C |
T |
2: 86,980,115 (GRCm39) |
V297M |
possibly damaging |
Het |
| Pald1 |
A |
G |
10: 61,177,064 (GRCm39) |
F662S |
possibly damaging |
Het |
| Pdcd4 |
G |
T |
19: 53,897,674 (GRCm39) |
A59S |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,103,888 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,814,106 (GRCm39) |
S4159T |
probably damaging |
Het |
| Plaat1 |
C |
A |
16: 29,046,922 (GRCm39) |
A147E |
possibly damaging |
Het |
| Plch1 |
C |
A |
3: 63,604,954 (GRCm39) |
R1641L |
probably benign |
Het |
| Plec |
G |
T |
15: 76,073,481 (GRCm39) |
P308Q |
probably damaging |
Het |
| Pnkp |
A |
G |
7: 44,509,826 (GRCm39) |
S262G |
possibly damaging |
Het |
| Prepl |
G |
A |
17: 85,395,785 (GRCm39) |
R66W |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,396 (GRCm39) |
K226E |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,269,306 (GRCm39) |
F381L |
probably benign |
Het |
| Sbsn |
C |
T |
7: 30,452,478 (GRCm39) |
Q498* |
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,977,980 (GRCm39) |
I106V |
probably benign |
Het |
| Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,475 (GRCm39) |
H780R |
probably damaging |
Het |
| Slc28a3 |
G |
T |
13: 58,706,389 (GRCm39) |
C617* |
probably null |
Het |
| Slc44a1 |
T |
A |
4: 53,561,006 (GRCm39) |
V574D |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,362,760 (GRCm39) |
T20S |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,083,995 (GRCm39) |
I394F |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,148,890 (GRCm39) |
V47A |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,185 (GRCm39) |
F765S |
probably damaging |
Het |
| Vps50 |
C |
T |
6: 3,517,852 (GRCm39) |
Q97* |
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,489,635 (GRCm39) |
Q467R |
probably damaging |
Het |
| Wdsub1 |
T |
G |
2: 59,708,477 (GRCm39) |
Y11S |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,983 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8011:Pou2f1
|
UTSW |
1 |
165,722,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GCAACCTCCCTAGAGCCATAGTCAT -3'
(R):5'- GGTAGGTGGGTAGATTCTCCCACAA -3'
Sequencing Primer
(F):5'- ccctagagccatAGTCATACAGTAAG -3'
(R):5'- TTCTTGTCTCACCTCTAGGTGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation