Incidental Mutation 'IGL00486:Pou6f2'
ID |
332201 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pou6f2
|
Ensembl Gene |
ENSMUSG00000009734 |
Gene Name |
POU domain, class 6, transcription factor 2 |
Synonyms |
RPF-1, D130006K24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00486
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
18295683-18572271 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 18314170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 401
(S401F)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176795]
[ENSMUST00000184299]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139064
AA Change: S401F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114173 Gene: ENSMUSG00000009734 AA Change: S401F
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: S401F
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176795
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176898
|
SMART Domains |
Protein: ENSMUSP00000135222 Gene: ENSMUSG00000009734
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
26 |
N/A |
INTRINSIC |
low complexity region
|
152 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184299
AA Change: S145F
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138840 Gene: ENSMUSG00000009734 AA Change: S145F
Domain | Start | End | E-Value | Type |
low complexity region
|
135 |
157 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pou6f2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2971:Pou6f2
|
UTSW |
13 |
18,556,552 (GRCm39) |
missense |
unknown |
|
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 |
|
|
Posted On |
2015-08-05 |