Incidental Mutation 'IGL00433:Leo1'
| ID |
4844 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Leo1
|
| Ensembl Gene |
ENSMUSG00000042487 |
| Gene Name |
Leo1, Paf1/RNA polymerase II complex component |
| Synonyms |
LOC235497 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
75348806-75373714 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 75357762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048937]
|
| AlphaFold |
Q5XJE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048937
|
| SMART Domains |
Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
78 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
82 |
160 |
7.97e-7 |
PROSPERO |
|
internal_repeat_1
|
177 |
253 |
7.97e-7 |
PROSPERO |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
|
Pfam:Leo1
|
375 |
537 |
5.8e-58 |
PFAM |
|
low complexity region
|
578 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213767
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
| Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
| C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
| Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
| Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
| Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
| Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
| Other mutations in Leo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Leo1
|
APN |
9 |
75,373,524 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01789:Leo1
|
APN |
9 |
75,361,896 (GRCm39) |
splice site |
probably benign |
|
|
IGL02116:Leo1
|
APN |
9 |
75,356,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Leo1
|
APN |
9 |
75,353,281 (GRCm39) |
splice site |
probably benign |
|
|
FR4449:Leo1
|
UTSW |
9 |
75,357,855 (GRCm39) |
critical splice donor site |
probably benign |
|
|
FR4976:Leo1
|
UTSW |
9 |
75,357,854 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0729:Leo1
|
UTSW |
9 |
75,364,420 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0811:Leo1
|
UTSW |
9 |
75,352,831 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0812:Leo1
|
UTSW |
9 |
75,352,831 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0960:Leo1
|
UTSW |
9 |
75,352,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1272:Leo1
|
UTSW |
9 |
75,357,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1349:Leo1
|
UTSW |
9 |
75,356,751 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1372:Leo1
|
UTSW |
9 |
75,356,751 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1634:Leo1
|
UTSW |
9 |
75,373,542 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2118:Leo1
|
UTSW |
9 |
75,353,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2167:Leo1
|
UTSW |
9 |
75,352,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2484:Leo1
|
UTSW |
9 |
75,352,755 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3963:Leo1
|
UTSW |
9 |
75,357,762 (GRCm39) |
splice site |
probably benign |
|
|
R4628:Leo1
|
UTSW |
9 |
75,352,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Leo1
|
UTSW |
9 |
75,353,159 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5590:Leo1
|
UTSW |
9 |
75,364,423 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5875:Leo1
|
UTSW |
9 |
75,357,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6394:Leo1
|
UTSW |
9 |
75,352,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7203:Leo1
|
UTSW |
9 |
75,353,278 (GRCm39) |
splice site |
probably null |
|
|
R7472:Leo1
|
UTSW |
9 |
75,355,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Leo1
|
UTSW |
9 |
75,362,961 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7671:Leo1
|
UTSW |
9 |
75,352,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7998:Leo1
|
UTSW |
9 |
75,352,558 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8679:Leo1
|
UTSW |
9 |
75,373,544 (GRCm39) |
nonsense |
probably null |
|
|
R8680:Leo1
|
UTSW |
9 |
75,353,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation