Incidental Mutation 'RF060:Pou3f1'
| ID |
605376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou3f1
|
| Ensembl Gene |
ENSMUSG00000090125 |
| Gene Name |
POU domain, class 3, transcription factor 1 |
| Synonyms |
Scip, Otf6, Oct6, Tst1, Test1, Oct-6, Tst-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF060 (G1)
|
| Quality Score |
102.88 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124551439-124554448 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GC to GCGGCGCC
at 124551602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053491]
|
| AlphaFold |
P21952 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE DIMERIC OCT-6 (POU3F1) POU DOMAIN BOUND TO PALINDROMIC MORE DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053491
|
| SMART Domains |
Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
236 |
N/A |
INTRINSIC |
|
POU
|
245 |
319 |
1.26e-52 |
SMART |
|
HOX
|
337 |
399 |
2.15e-17 |
SMART |
|
low complexity region
|
411 |
447 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit cyanosis and respiratory distress at birth and defective peripheral myelination due to arrested Scwann cell maturation. Mutants usually die at birth or shortly thereafter. [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 |
|---|
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTG |
GCTGTGGCTTCTG |
1: 82,891,308 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
CTGTGGCTG |
CTGTGGCTGATGTGGCTG |
1: 82,891,300 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
G |
GTGGCGC |
18: 36,693,975 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGCAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
ATTTATTTAT |
ATTTATTTATTTCTTTATTTAT |
9: 78,619,807 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGTT |
CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT |
9: 20,821,438 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GC |
GCCGCAAC |
2: 83,643,221 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TTC |
TTCCTC |
X: 74,043,619 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGA |
GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA |
7: 44,149,957 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,608 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
TGTAGT |
TGT |
6: 130,252,784 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA |
GAGGAGGA |
4: 98,625,031 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,438 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC |
2: 121,136,799 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCC |
GACTTGGCCCCACCTGGGTACTTGGCC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CT |
CTGGGCTTCACCTGGGGATT |
11: 4,891,052 (GRCm39) |
|
probably benign |
Het |
| Pdk1 |
CTGGCCT |
C |
2: 71,703,789 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
TCTCTCTCTCTCTCTCC |
10: 84,694,358 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
CTCGCT |
CTCGCTGTCGCT |
4: 34,049,841 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CAG |
CAGCGATCCTCCCCAGTCCCGCAAGGCAAG |
5: 77,164,274 (GRCm39) |
|
probably benign |
Het |
| St3gal5 |
G |
GCACTC |
6: 72,074,836 (GRCm39) |
|
probably null |
Het |
| Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
| Tcof1 |
CAG |
CAGTAG |
18: 60,968,816 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
C |
CAGT |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TTTGTTT |
TTTGTTTGCTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
G |
GAAACAGCAA |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pou3f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01700:Pou3f1
|
APN |
4 |
124,552,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Pou3f1
|
APN |
4 |
124,552,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0433:Pou3f1
|
UTSW |
4 |
124,552,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Pou3f1
|
UTSW |
4 |
124,552,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Pou3f1
|
UTSW |
4 |
124,552,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Pou3f1
|
UTSW |
4 |
124,552,074 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7891:Pou3f1
|
UTSW |
4 |
124,552,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8008:Pou3f1
|
UTSW |
4 |
124,552,764 (GRCm39) |
missense |
unknown |
|
|
R8691:Pou3f1
|
UTSW |
4 |
124,551,549 (GRCm39) |
missense |
unknown |
|
|
R8782:Pou3f1
|
UTSW |
4 |
124,552,807 (GRCm39) |
small deletion |
probably benign |
|
|
R8888:Pou3f1
|
UTSW |
4 |
124,552,152 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8922:Pou3f1
|
UTSW |
4 |
124,552,176 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9492:Pou3f1
|
UTSW |
4 |
124,552,179 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9513:Pou3f1
|
UTSW |
4 |
124,552,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
RF016:Pou3f1
|
UTSW |
4 |
124,551,602 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Pou3f1
|
UTSW |
4 |
124,551,598 (GRCm39) |
small insertion |
probably benign |
|
|
RF050:Pou3f1
|
UTSW |
4 |
124,551,597 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Pou3f1
|
UTSW |
4 |
124,551,589 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAATAGCGAGCTCCG -3'
(R):5'- CCCAAGTGGTGCGCTGTG -3'
Sequencing Primer
(F):5'- AATAGCGAGCTCCGGGTTG -3'
(R):5'- TCAGCTCGGCCGGTACC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation