Incidental Mutation 'PIT4402001:Pou6f2'
| ID |
555541 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4402001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
18295683-18572271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18299931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 576
(H576R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176795]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: H576R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176795
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
| Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
| Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
| Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
| Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
| Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
| Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
| Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
| Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
| Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
| Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAATCTGCTAAGGGCTC -3'
(R):5'- GCCTTTTGTATCCTGCCAGG -3'
Sequencing Primer
(F):5'- AATCTGCTAAGGGCTCCAGGG -3'
(R):5'- TCCTGCCAGGTTTGAAAAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation