Incidental Mutation 'R6145:Pou2f1'
| ID |
488784 |
| 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 |
044292-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
165692723-165830247 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 165703002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027850]
[ENSMUST00000069609]
[ENSMUST00000111426]
[ENSMUST00000111427]
[ENSMUST00000111429]
[ENSMUST00000159212]
[ENSMUST00000161971]
[ENSMUST00000184643]
[ENSMUST00000160908]
[ENSMUST00000187313]
[ENSMUST00000178336]
[ENSMUST00000160260]
|
| 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 |
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 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 |
unknown
Transcript: ENSMUST00000159212
AA Change: T579A
|
| SMART Domains |
Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: T579A
| 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 |
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 |
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: ENSMUST00000162411
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161971
|
| SMART Domains |
Protein: ENSMUSP00000124297
Gene: ENSMUSG00000005763
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:TCR_zetazeta
|
28 |
60 |
1.5e-23 |
PFAM |
|
ITAM
|
69 |
89 |
6.91e-5 |
SMART |
|
ITAM
|
108 |
129 |
1.27e-3 |
SMART |
|
| 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 |
|
| 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: ENSMUST00000187313
|
| SMART Domains |
Protein: ENSMUSP00000140926
Gene: ENSMUSG00000005763
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:TCR_zetazeta
|
28 |
60 |
2.5e-23 |
PFAM |
|
ITAM
|
69 |
89 |
6.91e-5 |
SMART |
|
ITAM
|
108 |
129 |
1.27e-3 |
SMART |
|
low complexity region
|
195 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178336
|
| SMART Domains |
Protein: ENSMUSP00000136456
Gene: ENSMUSG00000005763
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:TCR_zetazeta
|
28 |
60 |
1.7e-23 |
PFAM |
|
ITAM
|
69 |
89 |
6.91e-5 |
SMART |
|
ITAM
|
108 |
129 |
1.27e-3 |
SMART |
|
| Predicted Effect |
probably benign
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: ENSMUST00000184799
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 95.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
T |
A |
1: 85,980,664 (GRCm39) |
|
probably null |
Het |
| Abca8b |
A |
G |
11: 109,864,634 (GRCm39) |
V316A |
probably benign |
Het |
| Acad10 |
A |
T |
5: 121,760,096 (GRCm39) |
V999D |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,644,985 (GRCm39) |
V66A |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,619,400 (GRCm39) |
H1484R |
probably damaging |
Het |
| Anxa6 |
A |
G |
11: 54,885,730 (GRCm39) |
F405S |
probably damaging |
Het |
| Asmt |
G |
A |
X: 169,108,398 (GRCm39) |
V101I |
probably damaging |
Het |
| Atp1a2 |
C |
T |
1: 172,114,805 (GRCm39) |
V327I |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,525,865 (GRCm39) |
E906G |
possibly damaging |
Het |
| Cacna1g |
A |
T |
11: 94,353,087 (GRCm39) |
C313S |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,599,507 (GRCm39) |
I329T |
probably benign |
Het |
| Cavin4 |
A |
T |
4: 48,663,794 (GRCm39) |
H58L |
probably damaging |
Het |
| Ccdc78 |
C |
A |
17: 26,008,039 (GRCm39) |
P317T |
probably benign |
Het |
| Cdc16 |
T |
G |
8: 13,817,573 (GRCm39) |
Y295D |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 117,321,717 (GRCm39) |
N270I |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,546 (GRCm39) |
I114F |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,045,833 (GRCm39) |
E2414G |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,393 (GRCm39) |
I247V |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,022,927 (GRCm39) |
R1070L |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,493,982 (GRCm39) |
S1713P |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,553,621 (GRCm39) |
G602* |
probably null |
Het |
| Ep400 |
A |
T |
5: 110,904,569 (GRCm39) |
V10D |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,136,857 (GRCm39) |
C807R |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,552,673 (GRCm39) |
P200L |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,561,691 (GRCm39) |
I168V |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,112 (GRCm39) |
H6615L |
possibly damaging |
Het |
| Galk2 |
A |
T |
2: 125,788,762 (GRCm39) |
Q272L |
possibly damaging |
Het |
| Gas7 |
A |
C |
11: 67,520,438 (GRCm39) |
T43P |
probably damaging |
Het |
| Gm5134 |
A |
T |
10: 75,831,673 (GRCm39) |
I371F |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,270,266 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Grk1 |
T |
A |
8: 13,455,765 (GRCm39) |
Y216* |
probably null |
Het |
| Grm5 |
T |
A |
7: 87,675,809 (GRCm39) |
M441K |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,656,962 (GRCm39) |
E408G |
probably damaging |
Het |
| Hoxc9 |
G |
T |
15: 102,892,391 (GRCm39) |
K201N |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,239,077 (GRCm39) |
Y368F |
possibly damaging |
Het |
| Il2ra |
A |
T |
2: 11,685,057 (GRCm39) |
D131V |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,479,177 (GRCm39) |
E19G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,224,039 (GRCm39) |
*395Q |
probably null |
Het |
| Kdm6b |
A |
T |
11: 69,295,852 (GRCm39) |
L805Q |
unknown |
Het |
| Lgr4 |
T |
A |
2: 109,837,588 (GRCm39) |
L427* |
probably null |
Het |
| Myt1l |
G |
A |
12: 29,882,380 (GRCm39) |
S525N |
unknown |
Het |
| Nasp |
G |
A |
4: 116,468,274 (GRCm39) |
T237I |
probably benign |
Het |
| Nell2 |
G |
T |
15: 95,371,442 (GRCm39) |
Q98K |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,562,455 (GRCm39) |
G107R |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,403 (GRCm39) |
S203P |
probably damaging |
Het |
| Or1m1 |
T |
G |
9: 18,666,865 (GRCm39) |
D22A |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,496,184 (GRCm39) |
V117A |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pde10a |
T |
C |
17: 9,147,949 (GRCm39) |
V366A |
probably damaging |
Het |
| Pdxk |
T |
A |
10: 78,279,625 (GRCm39) |
D250V |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,808,468 (GRCm39) |
I179N |
probably damaging |
Het |
| Plaa |
T |
A |
4: 94,472,229 (GRCm39) |
I294F |
probably damaging |
Het |
| Pmel |
C |
A |
10: 128,551,804 (GRCm39) |
P213T |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,472 (GRCm39) |
R248* |
probably null |
Het |
| Ppm1j |
G |
A |
3: 104,688,695 (GRCm39) |
R98H |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,589,937 (GRCm39) |
P2600L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,186,991 (GRCm39) |
N422S |
probably benign |
Het |
| Pspn |
C |
T |
17: 57,306,467 (GRCm39) |
C154Y |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,120,701 (GRCm39) |
|
probably null |
Het |
| Rapgef1 |
A |
G |
2: 29,626,678 (GRCm39) |
Y993C |
probably damaging |
Het |
| Scrn2 |
A |
C |
11: 96,923,679 (GRCm39) |
T219P |
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,380,208 (GRCm39) |
S874R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,476,072 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
C |
T |
19: 10,834,615 (GRCm39) |
L499F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,800,628 (GRCm39) |
M193T |
probably damaging |
Het |
| Srsf4 |
G |
T |
4: 131,627,605 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,002,750 (GRCm39) |
D8055G |
probably damaging |
Het |
| Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
C |
A |
17: 24,427,203 (GRCm39) |
G253V |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,437,976 (GRCm39) |
I467N |
probably damaging |
Het |
| Tln1 |
T |
A |
4: 43,538,030 (GRCm39) |
M1857L |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,619,031 (GRCm39) |
R299G |
probably benign |
Het |
| Ugt2b36 |
T |
G |
5: 87,214,072 (GRCm39) |
E524A |
probably benign |
Het |
| Vmn2r124 |
C |
T |
17: 18,283,113 (GRCm39) |
T269I |
probably benign |
Het |
| Vmn2r4 |
A |
G |
3: 64,314,364 (GRCm39) |
F206L |
probably benign |
Het |
| Zfp346 |
A |
G |
13: 55,263,387 (GRCm39) |
K156R |
probably 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 |
|
|
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'- CACCTTGTTATGACTTAATGGTCTG -3'
(R):5'- TCCTCCCACCATGTTGTGAG -3'
Sequencing Primer
(F):5'- TGTTATGACTTAATGGTCTGTACAAC -3'
(R):5'- CCACCATGTTGTGAGGAGGAAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation