Incidental Mutation 'R8458:Lats1'
| ID |
655130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats1
|
| Ensembl Gene |
ENSMUSG00000040021 |
| Gene Name |
large tumor suppressor |
| Synonyms |
|
| MMRRC Submission |
067835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.822)
|
| Stock # |
R8458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
7556978-7592224 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 7586688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 950
(L950*)
|
| 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: L950*
|
| SMART Domains |
Protein: ENSMUSP00000041915
Gene: ENSMUSG00000040021
AA Change: L950*
| 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: L950*
|
| SMART Domains |
Protein: ENSMUSP00000132078
Gene: ENSMUSG00000040021
AA Change: L950*
| 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: L950*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,251,521 (GRCm39) |
H422L |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 50,145,013 (GRCm39) |
P527T |
probably damaging |
Het |
| Afg1l |
A |
G |
10: 42,302,517 (GRCm39) |
V161A |
probably damaging |
Het |
| Als2cl |
A |
C |
9: 110,714,025 (GRCm39) |
E65A |
probably damaging |
Het |
| Arl3 |
A |
C |
19: 46,546,709 (GRCm39) |
S39A |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,276,087 (GRCm39) |
V560A |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,982 (GRCm39) |
G183R |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Chkb |
A |
T |
15: 89,312,376 (GRCm39) |
V213E |
possibly damaging |
Het |
| Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
| Crx |
C |
A |
7: 15,602,031 (GRCm39) |
A216S |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,444,287 (GRCm39) |
D556G |
probably damaging |
Het |
| Cyp4a14 |
C |
A |
4: 115,353,129 (GRCm39) |
G61V |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,739,550 (GRCm39) |
F157L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,548,849 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,633,577 (GRCm39) |
H4P |
|
Het |
| Dnah7a |
T |
C |
1: 53,657,142 (GRCm39) |
D878G |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,363,684 (GRCm39) |
T731I |
probably benign |
Het |
| Epg5 |
G |
C |
18: 77,991,946 (GRCm39) |
E214D |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,035,702 (GRCm39) |
R3118H |
probably benign |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,794,509 (GRCm39) |
V187A |
possibly damaging |
Het |
| Gins1 |
T |
C |
2: 150,772,807 (GRCm39) |
V190A |
probably benign |
Het |
| Gm17067 |
T |
C |
7: 42,358,155 (GRCm39) |
S116G |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,553,862 (GRCm39) |
V250A |
probably benign |
Het |
| Gpr85 |
T |
C |
6: 13,836,848 (GRCm39) |
T19A |
probably benign |
Het |
| Hepacam2 |
T |
C |
6: 3,483,358 (GRCm39) |
N217S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,845,377 (GRCm39) |
Y889H |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,135,464 (GRCm39) |
R1822S |
possibly damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,754,407 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,874,933 (GRCm39) |
S11P |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,201,109 (GRCm39) |
G216R |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,930,901 (GRCm39) |
D167G |
probably damaging |
Het |
| Larp1b |
A |
C |
3: 40,930,995 (GRCm39) |
E291D |
probably benign |
Het |
| Lrrc2 |
A |
C |
9: 110,799,218 (GRCm39) |
D255A |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,456 (GRCm39) |
M605K |
probably benign |
Het |
| Mocos |
A |
G |
18: 24,799,314 (GRCm39) |
K183E |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,301,213 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
T |
A |
1: 162,883,250 (GRCm39) |
T410S |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,375,024 (GRCm39) |
E430G |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,863 (GRCm39) |
T252A |
probably benign |
Het |
| Ntrk1 |
C |
A |
3: 87,698,976 (GRCm39) |
|
probably null |
Het |
| Nts |
G |
T |
10: 102,320,921 (GRCm39) |
T56N |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,874 (GRCm39) |
D1276G |
probably null |
Het |
| Or4c12b |
G |
T |
2: 89,647,494 (GRCm39) |
V269F |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,875 (GRCm39) |
A229S |
possibly damaging |
Het |
| Or5b105 |
T |
C |
19: 13,079,840 (GRCm39) |
Y276C |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,113,177 (GRCm39) |
S535G |
possibly damaging |
Het |
| Pax9 |
A |
G |
12: 56,743,550 (GRCm39) |
I66V |
possibly damaging |
Het |
| Pja2 |
A |
G |
17: 64,599,843 (GRCm39) |
V547A |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,590 (GRCm39) |
L185S |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,608,540 (GRCm39) |
|
probably null |
Het |
| Ptgdr2 |
A |
T |
19: 10,917,785 (GRCm39) |
T101S |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 75,984,496 (GRCm39) |
D550G |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,128,419 (GRCm39) |
R160L |
probably benign |
Het |
| Rdh16f1 |
A |
C |
10: 127,624,714 (GRCm39) |
E184A |
probably damaging |
Het |
| Rfx3 |
C |
T |
19: 27,771,072 (GRCm39) |
E560K |
possibly damaging |
Het |
| Scgb2b24 |
T |
C |
7: 33,436,779 (GRCm39) |
Q111R |
probably benign |
Het |
| Spart |
A |
G |
3: 55,032,315 (GRCm39) |
D383G |
probably damaging |
Het |
| Stpg3 |
C |
A |
2: 25,103,333 (GRCm39) |
R252L |
probably damaging |
Het |
| Tcp11l2 |
C |
T |
10: 84,449,396 (GRCm39) |
Q454* |
probably null |
Het |
| Trav10d |
A |
G |
14: 53,048,780 (GRCm39) |
Y57C |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,321 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,302,332 (GRCm39) |
N1000K |
probably damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,692,045 (GRCm39) |
E329G |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,166,147 (GRCm39) |
C891* |
probably null |
Het |
| Zdhhc16 |
G |
T |
19: 41,928,093 (GRCm39) |
C204F |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,559 (GRCm39) |
I259V |
possibly damaging |
Het |
| Zranb3 |
G |
T |
1: 127,920,647 (GRCm39) |
Q426K |
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 |
|
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'- GCAGCCAACCTTACTTTAGAATATACC -3'
(R):5'- GGCTGGCTAACATATACAATGATGTC -3'
Sequencing Primer
(F):5'- CTAATGTCTGTATTCTGAGCAT -3'
(R):5'- CAAGTTTGAAGCCAACTGGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation