Incidental Mutation 'R8166:Lats1'
ID |
633786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
MMRRC Submission |
067592-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R8166 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7577880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 335
(T335A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
|
AlphaFold |
Q8BYR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040043
AA Change: T335A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: T335A
Domain | Start | End | E-Value | Type |
Pfam:UBA
|
101 |
138 |
7.4e-11 |
PFAM |
low complexity region
|
228 |
267 |
N/A |
INTRINSIC |
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
low complexity region
|
371 |
379 |
N/A |
INTRINSIC |
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
low complexity region
|
554 |
559 |
N/A |
INTRINSIC |
S_TKc
|
704 |
1009 |
7.3e-99 |
SMART |
S_TK_X
|
1010 |
1081 |
1.2e-2 |
SMART |
low complexity region
|
1102 |
1120 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165952
AA Change: T335A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: T335A
Domain | Start | End | E-Value | Type |
Pfam:UBA
|
101 |
138 |
7.4e-11 |
PFAM |
low complexity region
|
228 |
267 |
N/A |
INTRINSIC |
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
low complexity region
|
371 |
379 |
N/A |
INTRINSIC |
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
low complexity region
|
554 |
559 |
N/A |
INTRINSIC |
S_TKc
|
704 |
1009 |
7.3e-99 |
SMART |
S_TK_X
|
1010 |
1081 |
1.2e-2 |
SMART |
low complexity region
|
1102 |
1120 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (59/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. Two protein-coding transcripts and one non-protein coding transcript have been found for this gene. [provided by RefSeq, Jul 2012] PHENOTYPE: Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,144,232 (GRCm39) |
V569A |
probably benign |
Het |
Actrt3 |
A |
G |
3: 30,652,674 (GRCm39) |
F140S |
probably damaging |
Het |
Alx1 |
T |
A |
10: 102,845,224 (GRCm39) |
Q269L |
probably damaging |
Het |
Amph |
G |
T |
13: 19,132,660 (GRCm39) |
A20S |
possibly damaging |
Het |
Aqr |
T |
A |
2: 113,943,806 (GRCm39) |
M1111L |
possibly damaging |
Het |
Atp10a |
A |
T |
7: 58,457,270 (GRCm39) |
H923L |
possibly damaging |
Het |
Bmpr1a |
A |
C |
14: 34,147,026 (GRCm39) |
W249G |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,906,740 (GRCm39) |
N611I |
probably damaging |
Het |
Cadm2 |
A |
G |
16: 66,750,197 (GRCm39) |
L9S |
probably benign |
Het |
Ccdc102a |
C |
A |
8: 95,639,944 (GRCm39) |
A117S |
possibly damaging |
Het |
Clec4f |
G |
T |
6: 83,629,624 (GRCm39) |
S311R |
possibly damaging |
Het |
Dchs2 |
T |
A |
3: 83,261,640 (GRCm39) |
I2636N |
probably benign |
Het |
Dync2h1 |
T |
A |
9: 7,129,089 (GRCm39) |
K1809* |
probably null |
Het |
Efs |
C |
T |
14: 55,158,077 (GRCm39) |
R108Q |
probably damaging |
Het |
Eif5b |
A |
G |
1: 38,087,901 (GRCm39) |
T966A |
probably benign |
Het |
Entrep2 |
A |
G |
7: 64,409,153 (GRCm39) |
S414P |
probably benign |
Het |
Flnc |
A |
C |
6: 29,433,731 (GRCm39) |
N92H |
probably damaging |
Het |
Gm13030 |
A |
T |
4: 138,598,533 (GRCm39) |
L130H |
unknown |
Het |
Gm17190 |
A |
C |
13: 96,219,142 (GRCm39) |
R159S |
unknown |
Het |
Hipk1 |
T |
C |
3: 103,685,489 (GRCm39) |
Y42C |
possibly damaging |
Het |
Ifi207 |
C |
A |
1: 173,557,166 (GRCm39) |
C524F |
possibly damaging |
Het |
Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
Ighv8-9 |
G |
T |
12: 115,432,212 (GRCm39) |
P33H |
probably damaging |
Het |
Igkv8-34 |
A |
G |
6: 70,021,619 (GRCm39) |
V15A |
probably benign |
Het |
Irx5 |
T |
A |
8: 93,086,712 (GRCm39) |
|
probably null |
Het |
Kcnh4 |
A |
G |
11: 100,632,712 (GRCm39) |
L925P |
probably benign |
Het |
Kctd9 |
G |
A |
14: 67,967,141 (GRCm39) |
R153H |
possibly damaging |
Het |
Med20 |
A |
G |
17: 47,924,027 (GRCm39) |
T52A |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,095 (GRCm39) |
T139S |
possibly damaging |
Het |
Mtif3 |
T |
C |
5: 146,896,052 (GRCm39) |
T12A |
probably benign |
Het |
N4bp2 |
T |
G |
5: 65,977,655 (GRCm39) |
S1518A |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
Nasp |
A |
T |
4: 116,468,112 (GRCm39) |
V291E |
probably benign |
Het |
Ncapg2 |
T |
G |
12: 116,376,036 (GRCm39) |
D40E |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,057 (GRCm39) |
D103G |
probably benign |
Het |
Nsmce1 |
A |
G |
7: 125,070,319 (GRCm39) |
L164P |
probably damaging |
Het |
Ogdhl |
G |
A |
14: 32,059,763 (GRCm39) |
V426I |
probably damaging |
Het |
Or5p66 |
A |
G |
7: 107,885,904 (GRCm39) |
V143A |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,811,572 (GRCm39) |
E217G |
possibly damaging |
Het |
Pnpt1 |
A |
G |
11: 29,106,875 (GRCm39) |
I649V |
probably benign |
Het |
Prxl2c |
A |
T |
13: 64,456,921 (GRCm39) |
Y101N |
|
Het |
Pum2 |
G |
A |
12: 8,771,739 (GRCm39) |
A361T |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,798,815 (GRCm39) |
|
probably null |
Het |
Rps6ka4 |
G |
A |
19: 6,814,811 (GRCm39) |
R264W |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sall1 |
T |
C |
8: 89,755,146 (GRCm39) |
T1278A |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,300 (GRCm39) |
K434N |
possibly damaging |
Het |
Suclg1 |
T |
A |
6: 73,237,555 (GRCm39) |
V100D |
probably damaging |
Het |
Tarbp1 |
T |
G |
8: 127,153,867 (GRCm39) |
E1528D |
possibly damaging |
Het |
Trgc1 |
A |
G |
13: 19,400,772 (GRCm39) |
N167S |
|
Het |
Tshz2 |
C |
A |
2: 169,725,575 (GRCm39) |
T57K |
probably benign |
Het |
Ttc22 |
G |
A |
4: 106,491,673 (GRCm39) |
R229H |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,840,855 (GRCm39) |
V1563A |
probably benign |
Het |
Vmn1r68 |
A |
T |
7: 10,261,888 (GRCm39) |
M70K |
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,428,904 (GRCm39) |
I724N |
probably benign |
Het |
Vmn2r96 |
T |
C |
17: 18,802,744 (GRCm39) |
L26P |
probably damaging |
Het |
Wdr72 |
G |
A |
9: 74,120,610 (GRCm39) |
S955N |
probably benign |
Het |
Zfp518b |
C |
A |
5: 38,831,838 (GRCm39) |
A56S |
probably damaging |
Het |
|
Other mutations in Lats1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Lats1
|
APN |
10 |
7,567,330 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00595:Lats1
|
APN |
10 |
7,578,069 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00932:Lats1
|
APN |
10 |
7,588,506 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01019:Lats1
|
APN |
10 |
7,581,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01380:Lats1
|
APN |
10 |
7,567,544 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01965:Lats1
|
APN |
10 |
7,577,470 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02027:Lats1
|
APN |
10 |
7,588,712 (GRCm39) |
missense |
probably benign |
|
IGL02611:Lats1
|
APN |
10 |
7,581,551 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02997:Lats1
|
APN |
10 |
7,578,018 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03107:Lats1
|
APN |
10 |
7,588,510 (GRCm39) |
missense |
probably benign |
0.15 |
I1329:Lats1
|
UTSW |
10 |
7,588,566 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4378001:Lats1
|
UTSW |
10 |
7,581,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Lats1
|
UTSW |
10 |
7,567,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Lats1
|
UTSW |
10 |
7,588,292 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0581:Lats1
|
UTSW |
10 |
7,578,705 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0604:Lats1
|
UTSW |
10 |
7,588,425 (GRCm39) |
missense |
probably damaging |
0.96 |
R1681:Lats1
|
UTSW |
10 |
7,581,678 (GRCm39) |
missense |
probably damaging |
0.99 |
R1694:Lats1
|
UTSW |
10 |
7,577,709 (GRCm39) |
missense |
probably benign |
0.07 |
R1840:Lats1
|
UTSW |
10 |
7,586,703 (GRCm39) |
nonsense |
probably null |
|
R1914:Lats1
|
UTSW |
10 |
7,586,221 (GRCm39) |
splice site |
probably benign |
|
R2137:Lats1
|
UTSW |
10 |
7,577,611 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2317:Lats1
|
UTSW |
10 |
7,567,540 (GRCm39) |
nonsense |
probably null |
|
R3863:Lats1
|
UTSW |
10 |
7,581,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R3864:Lats1
|
UTSW |
10 |
7,581,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R4597:Lats1
|
UTSW |
10 |
7,567,510 (GRCm39) |
missense |
probably benign |
0.00 |
R4657:Lats1
|
UTSW |
10 |
7,581,448 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4658:Lats1
|
UTSW |
10 |
7,578,493 (GRCm39) |
missense |
probably benign |
|
R4663:Lats1
|
UTSW |
10 |
7,588,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R4870:Lats1
|
UTSW |
10 |
7,581,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Lats1
|
UTSW |
10 |
7,588,348 (GRCm39) |
nonsense |
probably null |
|
R5134:Lats1
|
UTSW |
10 |
7,567,575 (GRCm39) |
missense |
probably benign |
0.34 |
R5150:Lats1
|
UTSW |
10 |
7,588,415 (GRCm39) |
missense |
probably benign |
|
R5546:Lats1
|
UTSW |
10 |
7,581,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R5820:Lats1
|
UTSW |
10 |
7,581,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R6006:Lats1
|
UTSW |
10 |
7,581,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R6301:Lats1
|
UTSW |
10 |
7,578,871 (GRCm39) |
missense |
probably benign |
0.01 |
R6544:Lats1
|
UTSW |
10 |
7,577,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6647:Lats1
|
UTSW |
10 |
7,573,271 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6874:Lats1
|
UTSW |
10 |
7,586,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R7328:Lats1
|
UTSW |
10 |
7,581,311 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7390:Lats1
|
UTSW |
10 |
7,577,859 (GRCm39) |
nonsense |
probably null |
|
R7438:Lats1
|
UTSW |
10 |
7,588,706 (GRCm39) |
nonsense |
probably null |
|
R7457:Lats1
|
UTSW |
10 |
7,586,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Lats1
|
UTSW |
10 |
7,577,742 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7593:Lats1
|
UTSW |
10 |
7,577,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R7736:Lats1
|
UTSW |
10 |
7,578,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7884:Lats1
|
UTSW |
10 |
7,573,290 (GRCm39) |
nonsense |
probably null |
|
R8248:Lats1
|
UTSW |
10 |
7,581,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Lats1
|
UTSW |
10 |
7,586,688 (GRCm39) |
nonsense |
probably null |
|
R8477:Lats1
|
UTSW |
10 |
7,581,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R8547:Lats1
|
UTSW |
10 |
7,588,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Lats1
|
UTSW |
10 |
7,578,052 (GRCm39) |
missense |
probably benign |
|
R9441:Lats1
|
UTSW |
10 |
7,578,681 (GRCm39) |
missense |
probably damaging |
0.96 |
R9673:Lats1
|
UTSW |
10 |
7,588,387 (GRCm39) |
missense |
probably benign |
0.29 |
RF021:Lats1
|
UTSW |
10 |
7,586,372 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Lats1
|
UTSW |
10 |
7,586,387 (GRCm39) |
missense |
probably damaging |
1.00 |
X0053:Lats1
|
UTSW |
10 |
7,567,373 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Lats1
|
UTSW |
10 |
7,581,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCTCAGACAAAGCGCTAC -3'
(R):5'- AACGTTTCCATTGGCGAATGATG -3'
Sequencing Primer
(F):5'- CGCTACTCTGGGAACATGGAGTAC -3'
(R):5'- GCAGCAGAAGCCCCTGTTTG -3'
|
Posted On |
2020-07-13 |