Incidental Mutation 'R7390:Lats1'
ID |
573372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats1
|
Ensembl Gene |
ENSMUSG00000040021 |
Gene Name |
large tumor suppressor |
Synonyms |
|
MMRRC Submission |
045472-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R7390 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 7577859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 328
(Q328*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040043]
[ENSMUST00000165952]
[ENSMUST00000217931]
|
AlphaFold |
Q8BYR2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040043
AA Change: Q328*
|
SMART Domains |
Protein: ENSMUSP00000041915 Gene: ENSMUSG00000040021 AA Change: Q328*
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 null
Transcript: ENSMUST00000165952
AA Change: Q328*
|
SMART Domains |
Protein: ENSMUSP00000132078 Gene: ENSMUSG00000040021 AA Change: Q328*
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 null
Transcript: ENSMUST00000217931
AA Change: Q328*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (66/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
T |
13: 60,992,152 (GRCm39) |
D291E |
probably benign |
Het |
Abca9 |
C |
T |
11: 110,036,487 (GRCm39) |
V541I |
probably benign |
Het |
Adamts15 |
A |
T |
9: 30,822,404 (GRCm39) |
|
probably null |
Het |
Adgrg7 |
A |
G |
16: 56,553,207 (GRCm39) |
I630T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,980,569 (GRCm39) |
I618V |
probably benign |
Het |
Amotl2 |
T |
A |
9: 102,608,889 (GRCm39) |
V801E |
probably damaging |
Het |
Ankrd17 |
T |
C |
5: 90,430,779 (GRCm39) |
T1002A |
probably benign |
Het |
Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
Bpifb2 |
A |
G |
2: 153,731,726 (GRCm39) |
N293S |
possibly damaging |
Het |
Ccdc162 |
A |
G |
10: 41,510,044 (GRCm39) |
C854R |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,736,304 (GRCm39) |
E1225G |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,741,833 (GRCm39) |
E2146G |
possibly damaging |
Het |
Ces1a |
A |
C |
8: 93,771,469 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
G |
1: 172,368,925 (GRCm39) |
D444E |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,843,802 (GRCm39) |
V296A |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,552,931 (GRCm39) |
R1011H |
probably benign |
Het |
Cops4 |
C |
T |
5: 100,691,741 (GRCm39) |
R347C |
probably damaging |
Het |
D16Ertd472e |
G |
T |
16: 78,344,576 (GRCm39) |
D177E |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,291,600 (GRCm39) |
V195A |
possibly damaging |
Het |
Dipk2a |
A |
G |
9: 94,419,436 (GRCm39) |
S165P |
probably damaging |
Het |
Dpagt1 |
G |
A |
9: 44,243,319 (GRCm39) |
V285I |
probably benign |
Het |
Dspp |
G |
T |
5: 104,323,552 (GRCm39) |
A232S |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,615,411 (GRCm39) |
I726T |
possibly damaging |
Het |
Ephx2 |
G |
A |
14: 66,347,904 (GRCm39) |
|
|
Het |
Fat1 |
T |
C |
8: 45,405,511 (GRCm39) |
V754A |
possibly damaging |
Het |
Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,077,314 (GRCm39) |
S953T |
possibly damaging |
Het |
Gm1123 |
T |
C |
9: 98,893,033 (GRCm39) |
N315S |
probably benign |
Het |
Golga2 |
A |
G |
2: 32,178,202 (GRCm39) |
E37G |
|
Het |
Gpr139 |
T |
A |
7: 118,743,835 (GRCm39) |
Q250L |
probably benign |
Het |
Grik3 |
C |
T |
4: 125,543,532 (GRCm39) |
R283C |
probably damaging |
Het |
Haao |
A |
C |
17: 84,154,081 (GRCm39) |
V22G |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,266,490 (GRCm39) |
F1884I |
probably damaging |
Het |
Hyal3 |
G |
A |
9: 107,462,166 (GRCm39) |
G67S |
probably damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,330,424 (GRCm39) |
I266K |
probably benign |
Het |
Klhl26 |
A |
C |
8: 70,905,499 (GRCm39) |
L137R |
probably damaging |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Lars1 |
A |
G |
18: 42,343,083 (GRCm39) |
|
probably null |
Het |
Lingo3 |
G |
A |
10: 80,670,463 (GRCm39) |
T489I |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,066,261 (GRCm39) |
V65A |
possibly damaging |
Het |
Lysmd1 |
T |
C |
3: 95,045,795 (GRCm39) |
S211P |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,540,626 (GRCm39) |
S21N |
unknown |
Het |
Nav1 |
T |
C |
1: 135,512,656 (GRCm39) |
T135A |
probably benign |
Het |
Nt5c1a |
G |
C |
4: 123,102,272 (GRCm39) |
R66T |
probably benign |
Het |
Pclo |
T |
C |
5: 14,732,024 (GRCm39) |
Y3509H |
unknown |
Het |
Pkp4 |
G |
A |
2: 59,140,484 (GRCm39) |
G397R |
possibly damaging |
Het |
Ppp1r21 |
G |
A |
17: 88,856,958 (GRCm39) |
A138T |
probably benign |
Het |
Pum3 |
A |
T |
19: 27,401,642 (GRCm39) |
V136D |
probably benign |
Het |
Rab11fip3 |
A |
T |
17: 26,287,126 (GRCm39) |
D342E |
possibly damaging |
Het |
Rcvrn |
T |
A |
11: 67,590,883 (GRCm39) |
W156R |
probably damaging |
Het |
Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
Serpina1d |
T |
C |
12: 103,734,037 (GRCm39) |
D89G |
possibly damaging |
Het |
Sgsm3 |
T |
A |
15: 80,893,021 (GRCm39) |
V366E |
possibly damaging |
Het |
Shank3 |
T |
G |
15: 89,433,515 (GRCm39) |
L1420R |
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,608,100 (GRCm39) |
L215* |
probably null |
Het |
Slc16a13 |
C |
T |
11: 70,109,797 (GRCm39) |
V235I |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,907,187 (GRCm39) |
D29G |
probably benign |
Het |
Speer1a |
T |
C |
5: 11,394,879 (GRCm39) |
V122A |
probably benign |
Het |
Spns2 |
T |
A |
11: 72,347,704 (GRCm39) |
T329S |
possibly damaging |
Het |
Sufu |
G |
A |
19: 46,439,108 (GRCm39) |
|
probably null |
Het |
Tll2 |
A |
G |
19: 41,108,608 (GRCm39) |
|
probably null |
Het |
Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
Trim42 |
A |
C |
9: 97,241,182 (GRCm39) |
N683K |
probably damaging |
Het |
Trmt5 |
A |
G |
12: 73,328,394 (GRCm39) |
S270P |
probably damaging |
Het |
Vmn1r59 |
C |
A |
7: 5,456,986 (GRCm39) |
R258L |
possibly damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,482,851 (GRCm39) |
L41S |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,525,329 (GRCm39) |
E329V |
probably damaging |
Het |
Ywhae |
G |
T |
11: 75,655,487 (GRCm39) |
E253* |
probably null |
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 |
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'- GCTCTCAGACAAAGCGCTACTC -3'
(R):5'- GAACGTTTCCATTGGCGAATG -3'
Sequencing Primer
(F):5'- TCTGGGAACATGGAGTACGTAATCTC -3'
(R):5'- AGCCCCTGTTTGTAAAGCAG -3'
|
Posted On |
2019-09-13 |