Incidental Mutation 'R6301:Lats1'
ID |
509109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
MMRRC Submission |
044466-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R6301 (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 7578871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 665
(N665S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
AlphaFold |
Q8BYR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040043
AA Change: N665S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: N665S
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: N665S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: N665S
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: ENSMUST00000217931
AA Change: N665S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Meta Mutation Damage Score |
0.0580 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (66/66) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
C |
T |
4: 144,285,224 (GRCm39) |
A138T |
probably damaging |
Het |
Acot10 |
T |
C |
15: 20,666,348 (GRCm39) |
N131S |
probably benign |
Het |
Agbl5 |
A |
G |
5: 31,049,177 (GRCm39) |
Y220C |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,664,803 (GRCm39) |
Q914L |
unknown |
Het |
Arhgef25 |
T |
C |
10: 127,021,751 (GRCm39) |
D216G |
possibly damaging |
Het |
Bcas2 |
T |
A |
3: 103,079,187 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
A |
C |
2: 154,072,139 (GRCm39) |
H282P |
possibly damaging |
Het |
Ccdc121rt2 |
A |
T |
5: 112,598,334 (GRCm39) |
I294F |
possibly damaging |
Het |
Ccdc167 |
A |
G |
17: 29,924,556 (GRCm39) |
I15T |
probably damaging |
Het |
Cd248 |
A |
G |
19: 5,120,009 (GRCm39) |
N619S |
probably benign |
Het |
Chrna1 |
A |
G |
2: 73,400,828 (GRCm39) |
F234S |
possibly damaging |
Het |
Clcc1 |
T |
G |
3: 108,580,682 (GRCm39) |
M332R |
probably damaging |
Het |
Cmklr1 |
T |
A |
5: 113,752,999 (GRCm39) |
M1L |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,199,032 (GRCm39) |
M109V |
probably benign |
Het |
Coq2 |
A |
G |
5: 100,809,729 (GRCm39) |
I18T |
possibly damaging |
Het |
Crybg3 |
T |
C |
16: 59,350,701 (GRCm39) |
S880G |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,482,889 (GRCm39) |
C286R |
probably damaging |
Het |
Defa24 |
T |
C |
8: 22,225,299 (GRCm39) |
V63A |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,063,200 (GRCm39) |
R2634H |
probably damaging |
Het |
Dusp8 |
T |
A |
7: 141,636,756 (GRCm39) |
|
probably null |
Het |
Elac1 |
T |
C |
18: 73,871,939 (GRCm39) |
D352G |
probably damaging |
Het |
Ermap |
A |
T |
4: 119,042,800 (GRCm39) |
V241E |
probably damaging |
Het |
Fgf10 |
T |
A |
13: 118,852,047 (GRCm39) |
M43K |
probably benign |
Het |
Gabrd |
A |
G |
4: 155,471,724 (GRCm39) |
V193A |
probably damaging |
Het |
Hectd4 |
T |
G |
5: 121,392,283 (GRCm39) |
C182W |
possibly damaging |
Het |
Hook3 |
C |
T |
8: 26,524,968 (GRCm39) |
W26* |
probably null |
Het |
Kif1a |
C |
A |
1: 92,982,663 (GRCm39) |
E714* |
probably null |
Het |
Krt6b |
T |
C |
15: 101,587,386 (GRCm39) |
E236G |
probably damaging |
Het |
Large2 |
A |
G |
2: 92,199,861 (GRCm39) |
L209P |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,509,756 (GRCm39) |
|
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,925,001 (GRCm39) |
I55M |
probably benign |
Het |
Ltk |
A |
G |
2: 119,582,238 (GRCm39) |
S838P |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,217,194 (GRCm39) |
I348V |
probably benign |
Het |
Mag |
T |
A |
7: 30,600,104 (GRCm39) |
S559C |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,503,120 (GRCm39) |
H1072R |
possibly damaging |
Het |
Mycbp2 |
T |
A |
14: 103,392,862 (GRCm39) |
Q833L |
probably damaging |
Het |
Myh4 |
G |
A |
11: 67,146,159 (GRCm39) |
E1406K |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,330,302 (GRCm39) |
V950I |
probably benign |
Het |
Npl |
A |
G |
1: 153,394,627 (GRCm39) |
|
probably null |
Het |
Or10w3 |
A |
G |
19: 13,703,753 (GRCm39) |
I43V |
probably benign |
Het |
Or11g27 |
T |
A |
14: 50,771,711 (GRCm39) |
F281I |
probably benign |
Het |
Or2m13 |
A |
T |
16: 19,226,167 (GRCm39) |
F200I |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Oxsm |
A |
T |
14: 16,242,220 (GRCm38) |
I183N |
probably damaging |
Het |
Pde7a |
T |
C |
3: 19,297,327 (GRCm39) |
I108V |
probably benign |
Het |
Pgghg |
A |
T |
7: 140,526,289 (GRCm39) |
T585S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,452,921 (GRCm39) |
D3949N |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,169,331 (GRCm39) |
H1777Q |
possibly damaging |
Het |
Rela |
G |
A |
19: 5,695,438 (GRCm39) |
|
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,602 (GRCm39) |
G41W |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,417,477 (GRCm39) |
K1212E |
probably benign |
Het |
Sgca |
A |
C |
11: 94,863,393 (GRCm39) |
L28V |
probably damaging |
Het |
Ssmem1 |
A |
G |
6: 30,519,758 (GRCm39) |
R148G |
probably damaging |
Het |
St8sia5 |
A |
T |
18: 77,333,836 (GRCm39) |
N165Y |
probably damaging |
Het |
Tbl2 |
A |
T |
5: 135,188,223 (GRCm39) |
H339L |
probably benign |
Het |
Tcof1 |
G |
A |
18: 60,961,897 (GRCm39) |
P718L |
probably damaging |
Het |
Trim72 |
A |
T |
7: 127,603,786 (GRCm39) |
E44V |
possibly damaging |
Het |
Try10 |
T |
A |
6: 41,332,523 (GRCm39) |
S60T |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,247,499 (GRCm39) |
S1315T |
possibly damaging |
Het |
Xrn2 |
A |
G |
2: 146,905,262 (GRCm39) |
I856V |
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 |
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 |
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'- AGCCTAGCTTACCCAAGGAAG -3'
(R):5'- GGGAGTATAAATTAACCGTTGTCTC -3'
Sequencing Primer
(F):5'- CCTAGCTTACCCAAGGAAGATGATAG -3'
(R):5'- AACCGTTGTCTCAATTTCCATATTTC -3'
|
Posted On |
2018-04-02 |