Incidental Mutation 'IGL02611:Lats1'
ID | 300471 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name | large tumor suppressor |
Synonyms | |
Accession Numbers | |
Is this an essential gene? |
Probably essential (E-score: 0.873)
|
Stock # | IGL02611
|
Quality Score | |
Status |
|
Chromosome | 10 |
Chromosomal Location | 7681214-7716460 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 7705787 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 779
(F779L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040043
AA Change: F779L
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: F779L
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 |
possibly damaging
Transcript: ENSMUST00000165952
AA Change: F779L
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: F779L
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 |
possibly damaging
Transcript: ENSMUST00000217931
AA Change: F779L
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chac1 |
T |
A |
2: 119,353,453 |
Y179N |
probably damaging |
Het |
Cyp2c37 |
T |
G |
19: 39,993,865 |
F103L |
probably benign |
Het |
Dmp1 |
A |
T |
5: 104,212,514 |
D352V |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 65,055,793 |
I443T |
probably benign |
Het |
Furin |
G |
A |
7: 80,391,778 |
A544V |
probably benign |
Het |
Galntl6 |
A |
G |
8: 57,958,416 |
M260T |
probably damaging |
Het |
Gm17654 |
G |
A |
14: 43,579,005 |
T47I |
possibly damaging |
Het |
Hadha |
A |
G |
5: 30,128,943 |
|
probably benign |
Het |
Itfg2 |
T |
A |
6: 128,424,725 |
N30I |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,812,065 |
L1977H |
probably damaging |
Het |
Ltbp4 |
T |
C |
7: 27,310,655 |
Y1160C |
probably damaging |
Het |
Mcm7 |
C |
A |
5: 138,167,439 |
S401I |
probably damaging |
Het |
Olfr659 |
A |
T |
7: 104,671,407 |
D235V |
possibly damaging |
Het |
Olfr694 |
G |
T |
7: 106,688,789 |
T314K |
probably benign |
Het |
Pcdh8 |
C |
T |
14: 79,767,667 |
V876I |
probably benign |
Het |
Pfpl |
T |
C |
19: 12,430,283 |
S633P |
probably benign |
Het |
Psg29 |
G |
A |
7: 17,208,791 |
R239Q |
probably benign |
Het |
St18 |
T |
A |
1: 6,768,890 |
|
probably benign |
Het |
Syt2 |
G |
A |
1: 134,741,882 |
C87Y |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,165,708 |
T2300A |
probably damaging |
Het |
|
Other mutations in Lats1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Lats1
|
APN |
10 |
7691566 |
missense |
probably damaging |
0.99 |
IGL00595:Lats1
|
APN |
10 |
7702305 |
missense |
probably benign |
0.00 |
IGL00932:Lats1
|
APN |
10 |
7712742 |
missense |
possibly damaging |
0.69 |
IGL01019:Lats1
|
APN |
10 |
7705671 |
missense |
probably damaging |
1.00 |
IGL01380:Lats1
|
APN |
10 |
7691780 |
missense |
possibly damaging |
0.69 |
IGL01965:Lats1
|
APN |
10 |
7701706 |
missense |
probably benign |
0.10 |
IGL02027:Lats1
|
APN |
10 |
7712948 |
missense |
probably benign |
|
IGL02997:Lats1
|
APN |
10 |
7702254 |
missense |
possibly damaging |
0.53 |
IGL03107:Lats1
|
APN |
10 |
7712746 |
missense |
probably benign |
0.15 |
I1329:Lats1
|
UTSW |
10 |
7712802 |
missense |
probably benign |
0.10 |
PIT4378001:Lats1
|
UTSW |
10 |
7705605 |
missense |
probably damaging |
1.00 |
R0153:Lats1
|
UTSW |
10 |
7691575 |
missense |
probably damaging |
1.00 |
R0568:Lats1
|
UTSW |
10 |
7712528 |
missense |
possibly damaging |
0.69 |
R0581:Lats1
|
UTSW |
10 |
7702941 |
missense |
possibly damaging |
0.67 |
R0604:Lats1
|
UTSW |
10 |
7712661 |
missense |
probably damaging |
0.96 |
R1681:Lats1
|
UTSW |
10 |
7705914 |
missense |
probably damaging |
0.99 |
R1694:Lats1
|
UTSW |
10 |
7701945 |
missense |
probably benign |
0.07 |
R1840:Lats1
|
UTSW |
10 |
7710939 |
nonsense |
probably null |
|
R1914:Lats1
|
UTSW |
10 |
7710457 |
splice site |
probably benign |
|
R2137:Lats1
|
UTSW |
10 |
7701847 |
missense |
possibly damaging |
0.71 |
R2317:Lats1
|
UTSW |
10 |
7691776 |
nonsense |
probably null |
|
R3863:Lats1
|
UTSW |
10 |
7705746 |
missense |
probably damaging |
1.00 |
R3864:Lats1
|
UTSW |
10 |
7705746 |
missense |
probably damaging |
1.00 |
R4597:Lats1
|
UTSW |
10 |
7691746 |
missense |
probably benign |
0.00 |
R4657:Lats1
|
UTSW |
10 |
7705684 |
missense |
possibly damaging |
0.82 |
R4658:Lats1
|
UTSW |
10 |
7702729 |
missense |
probably benign |
|
R4663:Lats1
|
UTSW |
10 |
7712583 |
missense |
probably damaging |
1.00 |
R4870:Lats1
|
UTSW |
10 |
7705785 |
missense |
probably damaging |
1.00 |
R5101:Lats1
|
UTSW |
10 |
7712584 |
nonsense |
probably null |
|
R5134:Lats1
|
UTSW |
10 |
7691811 |
missense |
probably benign |
0.34 |
R5150:Lats1
|
UTSW |
10 |
7712651 |
missense |
probably benign |
|
R5546:Lats1
|
UTSW |
10 |
7705754 |
missense |
probably damaging |
0.99 |
R5820:Lats1
|
UTSW |
10 |
7705908 |
missense |
probably damaging |
1.00 |
R6006:Lats1
|
UTSW |
10 |
7705595 |
missense |
probably damaging |
1.00 |
R6301:Lats1
|
UTSW |
10 |
7703107 |
missense |
probably benign |
0.01 |
R6544:Lats1
|
UTSW |
10 |
7701670 |
missense |
possibly damaging |
0.94 |
R6647:Lats1
|
UTSW |
10 |
7697507 |
missense |
possibly damaging |
0.81 |
R6874:Lats1
|
UTSW |
10 |
7710851 |
missense |
probably damaging |
1.00 |
R7328:Lats1
|
UTSW |
10 |
7705547 |
missense |
possibly damaging |
0.62 |
R7390:Lats1
|
UTSW |
10 |
7702095 |
nonsense |
probably null |
|
R7438:Lats1
|
UTSW |
10 |
7712942 |
nonsense |
probably null |
|
R7457:Lats1
|
UTSW |
10 |
7710891 |
missense |
probably damaging |
1.00 |
R7524:Lats1
|
UTSW |
10 |
7701978 |
missense |
possibly damaging |
0.89 |
R7593:Lats1
|
UTSW |
10 |
7701712 |
missense |
probably damaging |
1.00 |
R7736:Lats1
|
UTSW |
10 |
7702364 |
missense |
probably damaging |
1.00 |
R7884:Lats1
|
UTSW |
10 |
7697526 |
nonsense |
probably null |
|
R8166:Lats1
|
UTSW |
10 |
7702116 |
missense |
probably benign |
|
R8248:Lats1
|
UTSW |
10 |
7705903 |
missense |
probably damaging |
1.00 |
R8458:Lats1
|
UTSW |
10 |
7710924 |
nonsense |
probably null |
|
R8477:Lats1
|
UTSW |
10 |
7705515 |
missense |
probably damaging |
1.00 |
R8547:Lats1
|
UTSW |
10 |
7712849 |
missense |
probably damaging |
1.00 |
RF021:Lats1
|
UTSW |
10 |
7710608 |
missense |
probably damaging |
1.00 |
X0026:Lats1
|
UTSW |
10 |
7710623 |
missense |
probably damaging |
1.00 |
X0053:Lats1
|
UTSW |
10 |
7691609 |
missense |
probably benign |
0.00 |
Z1176:Lats1
|
UTSW |
10 |
7705809 |
missense |
probably damaging |
1.00 |
|
Posted On | 2015-04-16 |