Incidental Mutation 'R9163:Lats1'
ID |
695855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
MMRRC Submission |
068975-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R9163 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 7578052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 392
(A392V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
AlphaFold |
Q8BYR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040043
AA Change: A392V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: A392V
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: A392V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: A392V
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: A392V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (69/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,393,400 (GRCm39) |
S351P |
possibly damaging |
Het |
4930558K02Rik |
A |
G |
1: 161,777,174 (GRCm39) |
S128P |
probably benign |
Het |
Adam17 |
C |
T |
12: 21,401,588 (GRCm39) |
V136I |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,018,176 (GRCm39) |
T413A |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,866,531 (GRCm39) |
K443E |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,567,541 (GRCm39) |
T5211S |
probably benign |
Het |
Adnp2 |
A |
T |
18: 80,172,200 (GRCm39) |
N736K |
possibly damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,609,884 (GRCm39) |
W1082* |
probably null |
Het |
Ap3b2 |
T |
G |
7: 81,113,546 (GRCm39) |
M888L |
unknown |
Het |
Arhgap35 |
C |
A |
7: 16,295,549 (GRCm39) |
R1172L |
possibly damaging |
Het |
Arrdc3 |
T |
A |
13: 81,041,506 (GRCm39) |
D402E |
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,118 (GRCm39) |
F31L |
possibly damaging |
Het |
Cd5l |
T |
G |
3: 87,274,932 (GRCm39) |
L157R |
probably benign |
Het |
Cdc14a |
G |
T |
3: 116,122,213 (GRCm39) |
D251E |
possibly damaging |
Het |
Cfap210 |
A |
T |
2: 69,606,510 (GRCm39) |
I302K |
probably benign |
Het |
Chmp2a |
T |
A |
7: 12,766,645 (GRCm39) |
Q91L |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,548,729 (GRCm39) |
|
probably null |
Het |
Ctdsp1 |
G |
T |
1: 74,434,126 (GRCm39) |
R201L |
possibly damaging |
Het |
Dhx15 |
C |
T |
5: 52,342,198 (GRCm39) |
R40H |
probably damaging |
Het |
Dnph1 |
A |
G |
17: 46,809,860 (GRCm39) |
Y134C |
probably damaging |
Het |
Foxo1 |
T |
A |
3: 52,253,301 (GRCm39) |
V488D |
probably benign |
Het |
Gcn1 |
C |
A |
5: 115,742,944 (GRCm39) |
N1538K |
probably benign |
Het |
Gldc |
T |
A |
19: 30,111,686 (GRCm39) |
E500V |
probably benign |
Het |
Hhip |
G |
A |
8: 80,701,743 (GRCm39) |
T597I |
probably benign |
Het |
Hmgn1 |
A |
G |
16: 95,928,509 (GRCm39) |
|
probably null |
Het |
Ifi205 |
A |
T |
1: 173,844,988 (GRCm39) |
S265T |
possibly damaging |
Het |
Igkv1-131 |
T |
C |
6: 67,743,753 (GRCm39) |
M2V |
probably benign |
Het |
Irgm2 |
T |
G |
11: 58,111,280 (GRCm39) |
S324A |
probably damaging |
Het |
Jarid2 |
C |
G |
13: 45,064,727 (GRCm39) |
D937E |
possibly damaging |
Het |
Jrkl |
A |
T |
9: 13,245,404 (GRCm39) |
W86R |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,330,584 (GRCm39) |
I319M |
probably benign |
Het |
Klhl7 |
T |
C |
5: 24,364,465 (GRCm39) |
Y500H |
probably damaging |
Het |
Llgl1 |
G |
T |
11: 60,600,402 (GRCm39) |
A584S |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,403,686 (GRCm39) |
S560Y |
probably damaging |
Het |
Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
Or8c10 |
T |
A |
9: 38,279,378 (GRCm39) |
C169S |
probably damaging |
Het |
Pde10a |
G |
A |
17: 9,181,791 (GRCm39) |
C498Y |
possibly damaging |
Het |
Pde4dip |
A |
G |
3: 97,659,123 (GRCm39) |
|
probably null |
Het |
Pdhx |
G |
A |
2: 102,852,561 (GRCm39) |
P434L |
probably damaging |
Het |
Pdlim3 |
T |
C |
8: 46,338,711 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
T |
C |
18: 30,427,483 (GRCm39) |
|
probably null |
Het |
Prkag1 |
T |
C |
15: 98,711,900 (GRCm39) |
K242R |
possibly damaging |
Het |
Rap1b |
A |
G |
10: 117,654,391 (GRCm39) |
S150P |
possibly damaging |
Het |
Scn4a |
A |
G |
11: 106,217,076 (GRCm39) |
S1102P |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,921,108 (GRCm39) |
Y1332H |
probably damaging |
Het |
Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
Slc13a1 |
C |
T |
6: 24,097,578 (GRCm39) |
|
probably null |
Het |
Slc17a8 |
A |
G |
10: 89,425,444 (GRCm39) |
V380A |
probably damaging |
Het |
Slc5a4b |
G |
T |
10: 75,917,165 (GRCm39) |
Y290* |
probably null |
Het |
Slco4c1 |
A |
G |
1: 96,764,633 (GRCm39) |
F480L |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,121,162 (GRCm39) |
V146A |
unknown |
Het |
Ssc5d |
T |
A |
7: 4,936,432 (GRCm39) |
D559E |
probably damaging |
Het |
Sstr5 |
A |
C |
17: 25,710,584 (GRCm39) |
I215S |
probably damaging |
Het |
Stambpl1 |
G |
A |
19: 34,212,634 (GRCm39) |
C268Y |
probably benign |
Het |
Stard3nl |
C |
A |
13: 19,560,809 (GRCm39) |
|
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,299,734 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
T |
12: 76,009,349 (GRCm39) |
M2417L |
possibly damaging |
Het |
Tenm4 |
T |
G |
7: 96,473,080 (GRCm39) |
Y959D |
probably damaging |
Het |
Tmem132d |
T |
A |
5: 127,869,570 (GRCm39) |
D588V |
possibly damaging |
Het |
Tnfrsf26 |
T |
C |
7: 143,172,130 (GRCm39) |
E60G |
possibly damaging |
Het |
Topbp1 |
A |
G |
9: 103,205,767 (GRCm39) |
R802G |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,096 (GRCm39) |
V360A |
probably benign |
Het |
Tshz2 |
G |
A |
2: 169,726,562 (GRCm39) |
C386Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,700,771 (GRCm39) |
D61E |
|
Het |
Upf1 |
T |
C |
8: 70,792,674 (GRCm39) |
T345A |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,718,782 (GRCm39) |
C712S |
probably damaging |
Het |
Vmn2r44 |
C |
T |
7: 8,371,091 (GRCm39) |
V652I |
probably benign |
Het |
Wfdc1 |
T |
C |
8: 120,393,302 (GRCm39) |
V8A |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,880,274 (GRCm39) |
Y738C |
probably benign |
Het |
Zfp618 |
T |
G |
4: 63,051,511 (GRCm39) |
V764G |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,898,261 (GRCm39) |
M221K |
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 |
|
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 |
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'- GAGGGCCATTAGTTCTGTTCCAG -3'
(R):5'- AATTTCATGCCCACCGCTTG -3'
Sequencing Primer
(F):5'- CCATCATCATGCAGAGTACTAGC -3'
(R):5'- ACCGCTTGGGGATGACTG -3'
|
Posted On |
2022-02-07 |