Incidental Mutation 'R1372:Leo1'
| ID |
157372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Leo1
|
| Ensembl Gene |
ENSMUSG00000042487 |
| Gene Name |
Leo1, Paf1/RNA polymerase II complex component |
| Synonyms |
LOC235497 |
| MMRRC Submission |
039436-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1372 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
75348806-75373714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75356751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 377
(V377A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048937]
|
| AlphaFold |
Q5XJE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048937
AA Change: V377A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
AA Change: V377A
| 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
|
| Meta Mutation Damage Score |
0.2592 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
A |
8: 117,698,696 (GRCm39) |
Q137L |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,334,016 (GRCm39) |
I1162T |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
| Adgre5 |
G |
A |
8: 84,454,949 (GRCm39) |
P248S |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,543,066 (GRCm39) |
S20A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Car10 |
A |
T |
11: 93,469,525 (GRCm39) |
T167S |
probably benign |
Het |
| Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
| Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
| Cdca4 |
G |
A |
12: 112,785,537 (GRCm39) |
Q64* |
probably null |
Het |
| Cela2a |
C |
T |
4: 141,546,405 (GRCm39) |
G178D |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
| Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
| Crmp1 |
G |
A |
5: 37,446,155 (GRCm39) |
G604R |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cxcr1 |
T |
C |
1: 74,231,161 (GRCm39) |
D287G |
probably benign |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,146 (GRCm39) |
I233T |
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
| Dsg4 |
C |
A |
18: 20,582,733 (GRCm39) |
|
probably null |
Het |
| Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,556,466 (GRCm39) |
M2440K |
probably benign |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,421,808 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,891,401 (GRCm39) |
V579A |
probably damaging |
Het |
| Oca2 |
T |
A |
7: 56,185,716 (GRCm39) |
M814K |
probably benign |
Het |
| Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,349,924 (GRCm39) |
E936G |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
| Plekhg5 |
G |
A |
4: 152,189,188 (GRCm39) |
R243H |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,249,122 (GRCm39) |
D366E |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCAGACAGTGTTTCTTGTTCCCTT -3'
(R):5'- AGCATGGCTTCACTACAGTGTGAC -3'
Sequencing Primer
(F):5'- CGTAATGAAATGTGGAACTTGAACTG -3'
(R):5'- ggctgtcctggaactcac -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation