Incidental Mutation 'R3864:Lats1'
ID |
276458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.890)
|
Stock # |
R3864 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
7681214-7716460 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7705746 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 765
(V765A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
AlphaFold |
Q8BYR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040043
AA Change: V765A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: V765A
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 damaging
Transcript: ENSMUST00000165952
AA Change: V765A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: V765A
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 damaging
Transcript: ENSMUST00000217931
AA Change: V765A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
G |
A |
11: 116,596,816 |
G114S |
probably damaging |
Het |
Abcc4 |
G |
A |
14: 118,616,415 |
A360V |
probably benign |
Het |
BC067074 |
A |
G |
13: 113,322,951 |
T1339A |
possibly damaging |
Het |
Catsper1 |
T |
C |
19: 5,336,176 |
S146P |
possibly damaging |
Het |
Ccny |
A |
T |
18: 9,449,604 |
L23Q |
probably damaging |
Het |
Chml |
A |
T |
1: 175,688,244 |
V37D |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,214,177 |
I825M |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,789,245 |
V422E |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,515,646 |
I368F |
probably benign |
Het |
Gm10309 |
A |
C |
17: 86,498,993 |
|
probably benign |
Het |
Greb1 |
G |
A |
12: 16,702,420 |
R974W |
probably damaging |
Het |
Grhl1 |
T |
C |
12: 24,615,930 |
*619Q |
probably null |
Het |
Ighv1-7 |
A |
G |
12: 114,538,646 |
I67T |
probably damaging |
Het |
Lrrd1 |
G |
A |
5: 3,851,248 |
V518I |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,754,022 |
R854Q |
probably benign |
Het |
March11 |
C |
T |
15: 26,387,866 |
A269V |
probably damaging |
Het |
Mep1b |
A |
G |
18: 21,084,169 |
N115S |
possibly damaging |
Het |
Mfn1 |
A |
G |
3: 32,563,092 |
D41G |
possibly damaging |
Het |
Naa25 |
T |
A |
5: 121,409,197 |
M132K |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,131,646 |
R758G |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,303,276 |
E765G |
probably damaging |
Het |
Scfd2 |
T |
G |
5: 74,397,720 |
K499Q |
possibly damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,620,484 |
D442G |
probably benign |
Het |
Wwc1 |
T |
A |
11: 35,910,316 |
D98V |
probably damaging |
Het |
Zfp426 |
G |
A |
9: 20,470,086 |
T521I |
possibly 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 |
|
IGL02611:Lats1
|
APN |
10 |
7705787 |
missense |
possibly damaging |
0.91 |
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 |
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 |
R9163:Lats1
|
UTSW |
10 |
7702288 |
missense |
probably benign |
|
R9441:Lats1
|
UTSW |
10 |
7702917 |
missense |
probably damaging |
0.96 |
R9673:Lats1
|
UTSW |
10 |
7712623 |
missense |
probably benign |
0.29 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTCTTAAAAGGGCTAAAATGGAC -3'
(R):5'- AGTGCACAAGCCAAAGTCAG -3'
Sequencing Primer
(F):5'- GGCTAAAATGGACAAGTCTATGTTTG -3'
(R):5'- GTCAATTTAATATGGCCATCACGGTC -3'
|
Posted On |
2015-04-06 |