Incidental Mutation 'R5820:Lats1'
ID |
449872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
MMRRC Submission |
043400-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R5820 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 7581672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 819
(H819L)
|
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: H819L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: H819L
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: H819L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: H819L
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: H819L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
G |
14: 118,841,607 (GRCm39) |
Y596H |
probably benign |
Het |
Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgef38 |
A |
T |
3: 132,866,560 (GRCm39) |
D192E |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,224,953 (GRCm39) |
F33L |
possibly damaging |
Het |
Arid1b |
A |
G |
17: 5,046,529 (GRCm39) |
Y439C |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,093,675 (GRCm39) |
V875A |
probably benign |
Het |
Bop1 |
G |
A |
15: 76,339,041 (GRCm39) |
P386S |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,007,342 (GRCm39) |
H453R |
probably damaging |
Het |
Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
Chfr |
T |
A |
5: 110,310,605 (GRCm39) |
D475E |
possibly damaging |
Het |
Clcn7 |
A |
C |
17: 25,368,026 (GRCm39) |
K208T |
probably damaging |
Het |
Cmya5 |
G |
T |
13: 93,229,288 (GRCm39) |
N1933K |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,144,900 (GRCm39) |
T588A |
possibly damaging |
Het |
Cwh43 |
G |
A |
5: 73,585,975 (GRCm39) |
W358* |
probably null |
Het |
Cyfip2 |
A |
T |
11: 46,091,531 (GRCm39) |
W1130R |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,917,151 (GRCm39) |
S92G |
probably benign |
Het |
Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
Ecscr |
C |
A |
18: 35,850,320 (GRCm39) |
V52F |
possibly damaging |
Het |
Epha7 |
A |
T |
4: 28,949,365 (GRCm39) |
N712I |
probably damaging |
Het |
Eva1a |
C |
T |
6: 82,048,154 (GRCm39) |
P11S |
probably benign |
Het |
Fam187b |
T |
C |
7: 30,676,577 (GRCm39) |
C29R |
probably damaging |
Het |
Fau |
T |
C |
19: 6,109,452 (GRCm39) |
V117A |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,685,374 (GRCm39) |
D369G |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,263,783 (GRCm39) |
F95L |
probably benign |
Het |
Fkbp6 |
A |
T |
5: 135,368,774 (GRCm39) |
|
probably null |
Het |
Fmo9 |
T |
C |
1: 166,492,170 (GRCm39) |
K367E |
possibly damaging |
Het |
Gad2 |
T |
C |
2: 22,580,261 (GRCm39) |
V554A |
probably benign |
Het |
Gm18025 |
T |
C |
12: 34,340,631 (GRCm39) |
D154G |
probably benign |
Het |
Gm4353 |
A |
G |
7: 115,683,693 (GRCm39) |
F34S |
possibly damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,522 (GRCm39) |
I459T |
probably benign |
Het |
Hpx |
A |
G |
7: 105,240,995 (GRCm39) |
I426T |
possibly damaging |
Het |
Hspa9 |
T |
C |
18: 35,076,227 (GRCm39) |
T362A |
possibly damaging |
Het |
Insr |
G |
A |
8: 3,205,976 (GRCm39) |
P1271L |
probably damaging |
Het |
Jarid2 |
G |
A |
13: 45,055,777 (GRCm39) |
V328I |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,803,874 (GRCm39) |
S429P |
probably benign |
Het |
Lmnb1 |
T |
A |
18: 56,873,858 (GRCm39) |
D421E |
possibly damaging |
Het |
Lrp4 |
T |
C |
2: 91,322,960 (GRCm39) |
I1148T |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,569,332 (GRCm39) |
M1130L |
unknown |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Myh6 |
T |
C |
14: 55,196,137 (GRCm39) |
Y554C |
probably damaging |
Het |
Myl4 |
T |
C |
11: 104,474,806 (GRCm39) |
F52L |
probably damaging |
Het |
Nol12 |
C |
T |
15: 78,824,680 (GRCm39) |
T169I |
probably benign |
Het |
Nrde2 |
C |
T |
12: 100,098,546 (GRCm39) |
R707H |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,075,037 (GRCm39) |
V366M |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,895 (GRCm39) |
I289T |
possibly damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Polrmt |
C |
T |
10: 79,574,157 (GRCm39) |
|
probably null |
Het |
Ppil4 |
A |
G |
10: 7,686,174 (GRCm39) |
D344G |
probably null |
Het |
Ppp2r3d |
C |
T |
9: 124,422,765 (GRCm38) |
A69T |
possibly damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,554 (GRCm39) |
P487S |
probably damaging |
Het |
Ptprm |
A |
T |
17: 66,996,460 (GRCm39) |
L1209H |
probably damaging |
Het |
Rnf115 |
G |
A |
3: 96,635,164 (GRCm39) |
|
probably benign |
Het |
Sec63 |
A |
G |
10: 42,672,241 (GRCm39) |
D185G |
possibly damaging |
Het |
Sema4b |
T |
C |
7: 79,874,706 (GRCm39) |
S699P |
probably damaging |
Het |
Serpinb3d |
T |
G |
1: 107,006,089 (GRCm39) |
E333A |
probably damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,274,112 (GRCm39) |
L426P |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,427,503 (GRCm39) |
I611M |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,394,219 (GRCm39) |
Y194N |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,099,906 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Vmn1r188 |
G |
A |
13: 22,272,256 (GRCm39) |
G70D |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,723,699 (GRCm39) |
M1901V |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,578,649 (GRCm39) |
D821E |
probably benign |
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 |
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 |
|
R8166:Lats1
|
UTSW |
10 |
7,577,880 (GRCm39) |
missense |
probably benign |
|
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'- CCTAGCAGAAGCCGACAATG -3'
(R):5'- TCTCATTCAGTGTTGAAGCCAC -3'
Sequencing Primer
(F):5'- CGACAATGAGTGGGTGGTCC -3'
(R):5'- GAAGCCACTGTAAATTGTACTGC -3'
|
Posted On |
2016-12-20 |