Incidental Mutation 'IGL02303:Leo1'
ID |
287491 |
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 # |
IGL02303
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
75348806-75373714 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 75353281 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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
Mbnl2 |
T |
C |
14: 120,642,059 (GRCm39) |
M341T |
probably benign |
Het |
Nfatc2 |
G |
A |
2: 168,348,821 (GRCm39) |
R669* |
probably null |
Het |
Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
Or51ag1 |
A |
T |
7: 103,155,295 (GRCm39) |
M286K |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,929,553 (GRCm39) |
H222Q |
probably damaging |
Het |
Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tmod4 |
C |
A |
3: 95,032,953 (GRCm39) |
Q30K |
probably benign |
Het |
Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,168,002 (GRCm39) |
S704P |
unknown |
Het |
Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
probably damaging |
Het |
|
Other mutations in Leo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Leo1
|
APN |
9 |
75,357,762 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2015-04-16 |