Incidental Mutation 'R1349:Leo1'
ID |
156608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Leo1
|
Ensembl Gene |
ENSMUSG00000042487 |
Gene Name |
Leo1, Paf1/RNA polymerase II complex component |
Synonyms |
LOC235497 |
MMRRC Submission |
039414-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1349 (G1)
|
Quality Score |
225 |
Status
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
Validation Efficiency |
98% (46/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
G |
A |
8: 125,587,992 (GRCm39) |
T36I |
possibly damaging |
Het |
Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
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 |
Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,099,056 (GRCm39) |
I48N |
probably benign |
Het |
Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
G |
A |
6: 120,734,564 (GRCm39) |
G613E |
probably damaging |
Het |
Clspn |
C |
T |
4: 126,457,770 (GRCm39) |
A98V |
probably benign |
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 |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dbpht2 |
C |
CNNNNNNNNNNNNNNNNNN |
12: 74,345,836 (GRCm39) |
|
noncoding transcript |
Het |
Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,021,920 (GRCm39) |
N1612Y |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,840,542 (GRCm39) |
|
probably benign |
Het |
Glipr1 |
A |
G |
10: 111,829,437 (GRCm39) |
V108A |
probably benign |
Het |
Gpatch2l |
T |
C |
12: 86,307,483 (GRCm39) |
L287P |
possibly damaging |
Het |
Hp |
T |
G |
8: 110,301,938 (GRCm39) |
K337Q |
probably benign |
Het |
Htr1a |
T |
A |
13: 105,581,874 (GRCm39) |
C371* |
probably null |
Het |
Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
Map4k4 |
C |
A |
1: 40,060,319 (GRCm39) |
P1103Q |
probably damaging |
Het |
Mybph |
T |
C |
1: 134,121,353 (GRCm39) |
S38P |
probably benign |
Het |
Myo1e |
T |
G |
9: 70,194,351 (GRCm39) |
|
probably benign |
Het |
Nefh |
T |
TNNNNNNNNNNNNNNNNNN |
11: 4,891,010 (GRCm39) |
|
probably benign |
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 |
Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
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 |
Slc6a7 |
C |
T |
18: 61,133,615 (GRCm39) |
G527D |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
Tgm1 |
A |
G |
14: 55,948,658 (GRCm39) |
|
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
Togaram1 |
T |
A |
12: 65,057,919 (GRCm39) |
M1502K |
probably damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,880,887 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
T |
C |
5: 109,234,452 (GRCm39) |
M587V |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
Wdr35 |
A |
T |
12: 9,069,870 (GRCm39) |
|
probably benign |
Het |
Wdr73 |
C |
A |
7: 80,543,000 (GRCm39) |
V176L |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAACCAGACAGTGTTTCTTGTTCCCTT -3'
(R):5'- AGCATGGCTTCACTACAGTGTGAC -3'
Sequencing Primer
(F):5'- CGTAATGAAATGTGGAACTTGAACTG -3'
(R):5'- ggctgtcctggaactcac -3'
|
Posted On |
2014-02-11 |