Incidental Mutation 'R2863:Pou6f1'
| ID |
253058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou6f1
|
| Ensembl Gene |
ENSMUSG00000009739 |
| Gene Name |
POU domain, class 6, transcription factor 1 |
| Synonyms |
cns-1, 2310038G18Rik, Emb |
| MMRRC Submission |
040453-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
R2863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
100473199-100497865 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 100478689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058274]
[ENSMUST00000073837]
[ENSMUST00000176271]
[ENSMUST00000176300]
[ENSMUST00000177202]
|
| AlphaFold |
Q07916 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058274
|
| SMART Domains |
Protein: ENSMUSP00000049955
Gene: ENSMUSG00000009739
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000073837
|
| SMART Domains |
Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
232 |
N/A |
INTRINSIC |
|
POU
|
414 |
488 |
6.32e-44 |
SMART |
|
HOX
|
509 |
571 |
7.03e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176140
|
| SMART Domains |
Protein: ENSMUSP00000135670
Gene: ENSMUSG00000009739
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
139 |
213 |
6.32e-44 |
SMART |
|
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176271
|
| SMART Domains |
Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
139 |
213 |
6.32e-44 |
SMART |
|
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177202
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184908
|
| SMART Domains |
Protein: ENSMUSP00000139023
Gene: ENSMUSG00000098598
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
139 |
213 |
6.32e-44 |
SMART |
|
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177335
|
| SMART Domains |
Protein: ENSMUSP00000135627
Gene: ENSMUSG00000009739
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
28 |
102 |
6.32e-44 |
SMART |
|
HOX
|
123 |
185 |
7.03e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230790
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
| Mus81 |
T |
G |
19: 5,536,528 (GRCm39) |
Y146S |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,736 (GRCm39) |
S549P |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,835 (GRCm39) |
F283I |
possibly damaging |
Het |
| Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
| Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
| Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
| Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,137,352 (GRCm39) |
D565E |
probably damaging |
Het |
|
| Other mutations in Pou6f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Pou6f1
|
APN |
15 |
100,477,928 (GRCm39) |
splice site |
probably benign |
|
|
IGL02451:Pou6f1
|
APN |
15 |
100,477,821 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02545:Pou6f1
|
APN |
15 |
100,481,306 (GRCm39) |
nonsense |
probably null |
|
|
R0076:Pou6f1
|
UTSW |
15 |
100,485,717 (GRCm39) |
nonsense |
probably null |
|
|
R0076:Pou6f1
|
UTSW |
15 |
100,485,717 (GRCm39) |
nonsense |
probably null |
|
|
R0212:Pou6f1
|
UTSW |
15 |
100,478,696 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1297:Pou6f1
|
UTSW |
15 |
100,476,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:Pou6f1
|
UTSW |
15 |
100,483,839 (GRCm39) |
missense |
probably benign |
|
|
R3418:Pou6f1
|
UTSW |
15 |
100,478,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4161:Pou6f1
|
UTSW |
15 |
100,478,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4793:Pou6f1
|
UTSW |
15 |
100,476,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Pou6f1
|
UTSW |
15 |
100,483,874 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5947:Pou6f1
|
UTSW |
15 |
100,484,001 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6261:Pou6f1
|
UTSW |
15 |
100,477,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6731:Pou6f1
|
UTSW |
15 |
100,477,764 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7696:Pou6f1
|
UTSW |
15 |
100,481,979 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8795:Pou6f1
|
UTSW |
15 |
100,485,686 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8941:Pou6f1
|
UTSW |
15 |
100,489,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9114:Pou6f1
|
UTSW |
15 |
100,478,789 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9731:Pou6f1
|
UTSW |
15 |
100,476,206 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9737:Pou6f1
|
UTSW |
15 |
100,481,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0019:Pou6f1
|
UTSW |
15 |
100,481,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Pou6f1
|
UTSW |
15 |
100,481,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCCTCCACTTCCACTGTG -3'
(R):5'- CGAGTTACGCAGGGGTAATG -3'
Sequencing Primer
(F):5'- ACTGAACCTGAGGACCTGAGTTC -3'
(R):5'- CAGGGGTAATGGGGCTTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation