Incidental Mutation 'IGL02451:Pou6f1'
| ID |
293655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pou6f1
|
| Ensembl Gene |
ENSMUSG00000009739 |
| Gene Name |
POU domain, class 6, transcription factor 1 |
| Synonyms |
cns-1, 2310038G18Rik, Emb |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.466)
|
| Stock # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
100473199-100497865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100477821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 166
(T166A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058274]
[ENSMUST00000073837]
[ENSMUST00000176271]
[ENSMUST00000176300]
[ENSMUST00000177202]
|
| AlphaFold |
Q07916 |
| Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000073837
AA Change: T441A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: T441A
| 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 |
possibly damaging
Transcript: ENSMUST00000176271
AA Change: T166A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
AA Change: T166A
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
139 |
213 |
6.32e-44 |
SMART |
|
HOX
|
234 |
296 |
7.03e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176271
AA Change: T166A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177202
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
| Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
| Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
| Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
| Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
| Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
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 |
|
|
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 |
|
R2863:Pou6f1
|
UTSW |
15 |
100,478,689 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation