Incidental Mutation 'R2971:Pou6f2'
| ID |
477687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou6f2
|
| Ensembl Gene |
ENSMUSG00000009734 |
| Gene Name |
POU domain, class 6, transcription factor 2 |
| Synonyms |
RPF-1, D130006K24Rik |
| MMRRC Submission |
040525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2971 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
18295683-18572271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18556552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 25
(T25A)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000139064
AA Change: T25A
|
| SMART Domains |
Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: T25A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
|
coiled coil region
|
107 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
POU
|
422 |
532 |
9.61e-26 |
SMART |
|
HOX
|
553 |
615 |
3.01e-21 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175703
AA Change: T25A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223058
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and of normal size with no apparent phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
| Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
| Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
| Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
| Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
| Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
| Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
| Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
probably damaging |
Het |
|
| Other mutations in Pou6f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Pou6f2
|
APN |
13 |
18,314,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Pou6f2
|
UTSW |
13 |
18,303,612 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4402001:Pou6f2
|
UTSW |
13 |
18,299,931 (GRCm39) |
missense |
|
|
|
PIT4519001:Pou6f2
|
UTSW |
13 |
18,414,149 (GRCm39) |
missense |
unknown |
|
|
R0349:Pou6f2
|
UTSW |
13 |
18,326,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Pou6f2
|
UTSW |
13 |
18,314,308 (GRCm39) |
splice site |
probably benign |
|
|
R1449:Pou6f2
|
UTSW |
13 |
18,347,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Pou6f2
|
UTSW |
13 |
18,326,548 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5193:Pou6f2
|
UTSW |
13 |
18,300,129 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5218:Pou6f2
|
UTSW |
13 |
18,326,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Pou6f2
|
UTSW |
13 |
18,303,739 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6747:Pou6f2
|
UTSW |
13 |
18,303,772 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6805:Pou6f2
|
UTSW |
13 |
18,414,074 (GRCm39) |
missense |
|
|
|
R6978:Pou6f2
|
UTSW |
13 |
18,347,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Pou6f2
|
UTSW |
13 |
18,299,754 (GRCm39) |
missense |
|
|
|
R7158:Pou6f2
|
UTSW |
13 |
18,326,623 (GRCm39) |
missense |
|
|
|
R7187:Pou6f2
|
UTSW |
13 |
18,414,298 (GRCm39) |
missense |
|
|
|
R7198:Pou6f2
|
UTSW |
13 |
18,303,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7203:Pou6f2
|
UTSW |
13 |
18,414,379 (GRCm39) |
missense |
unknown |
|
|
R7241:Pou6f2
|
UTSW |
13 |
18,299,874 (GRCm39) |
missense |
|
|
|
R7307:Pou6f2
|
UTSW |
13 |
18,414,298 (GRCm39) |
missense |
|
|
|
R7827:Pou6f2
|
UTSW |
13 |
18,553,092 (GRCm39) |
missense |
|
|
|
R7895:Pou6f2
|
UTSW |
13 |
18,300,033 (GRCm39) |
missense |
|
|
|
R8070:Pou6f2
|
UTSW |
13 |
18,414,209 (GRCm39) |
missense |
unknown |
|
|
R8207:Pou6f2
|
UTSW |
13 |
18,414,158 (GRCm39) |
missense |
|
|
|
R8334:Pou6f2
|
UTSW |
13 |
18,299,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Pou6f2
|
UTSW |
13 |
18,414,196 (GRCm39) |
missense |
unknown |
|
|
R8830:Pou6f2
|
UTSW |
13 |
18,553,083 (GRCm39) |
missense |
|
|
|
R9203:Pou6f2
|
UTSW |
13 |
18,303,615 (GRCm39) |
missense |
|
|
|
R9462:Pou6f2
|
UTSW |
13 |
18,314,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9632:Pou6f2
|
UTSW |
13 |
18,299,848 (GRCm39) |
missense |
|
|
|
R9709:Pou6f2
|
UTSW |
13 |
18,414,389 (GRCm39) |
missense |
unknown |
|
|
Z1176:Pou6f2
|
UTSW |
13 |
18,553,220 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation